The possibility of nocturnal oxygen desaturation (NOD) in patients with chronic bronchitis and em... more The possibility of nocturnal oxygen desaturation (NOD) in patients with chronic bronchitis and emphysema (CBE) even with basal hypoxemia greater that 55 mmHg is well recognised. Nocturnal hypoventilation is admitted as the main cause for this NOD. In this study we evaluate how the presence of left ventricular dysfunction (LVD) could aggravate NOD. Thirty-six patients with CBE and basal stabilised PaO2 55-70 mmHg underwent right heart catheterisation and polysomnographic study. NOD was defined as more than 30% of total sleep time with SaO2 less than 90%; LVD was defined as capillary pressure greater than 15 mmHg. Six patients were excluded from analysis because of sleep apnoea syndrome. In the remaining 30 patients (20 men, 10 women; mean age = 65.88.6 years; mean FEV1 = 0.970.31 litres; 43.316.6% predicted; mean basal PaO2 = 61.83.6 mmHg) 8 had LVD and 18 and NOD. Patients with NOD had a greater diurnal level of hypoventilation (basal PaCO2 = 44.63.8 vs. 414.1 mmHg; p = 0.025). Pati...
The authors present the clinical of a male patient aged 45 years whose main complaints were loud ... more The authors present the clinical of a male patient aged 45 years whose main complaints were loud snoring and excessive daytime sleepiness. Polysomnographic study revealed a sleep obstructive apnea syndrome with an apnea/hypopnea index of 86.5. After being treated with nasal continuous positive air pressure, (12 cm H2O), the apneas ended and sleep architecture was corrected. Physical examination also indicated the presence of an acromegaly, and therefore, the patient was subjected to endocrinological and cerebral imagiological studies; the diagnosis confirmed it as a predisposing factor to the sleep breathing disorder. A brief literature review about the incidence of sleep apnea syndrome in acromegaly is also made; the authors conclude that there is still the need for a systematic screening of sleep breathing disorders in acromegalic patients in order to optimise the treatment and prognosis of this disorders.
Background: Cataplexy is a major symptom of narcolepsy and is defined as a sudden loss of muscle ... more Background: Cataplexy is a major symptom of narcolepsy and is defined as a sudden loss of muscle tone during wakefulness while consciousness is preserved. It is a dynamic, multi-phased process which involves different brain regions before, during and after its occurrence. Monoaminergic neuronal populations that are important wakepromoting systems play also an important role in pathophysiology of narcolepsy with cataplexy. In this work we sought to understand if the modulation of the serotonin transmission can influence cataplexy occurrence in mice. Methods: The mice were implanted with EEG electrodes and EMBLA TM hardware was used for signal acquisition and Somnologica-3 TM (Medcare) software for data analysis. High resolution camera also was used to record animal behavior during different vigilance state. Result: Our results showed that introducing a null 5-HTT gene (serotonin transporter) in the animal model of cataplexy (Hcrt KO mice) greatly reduced cataplectic attacks but REM sleep amount increased. This decrease in cataplexy was even more pronounced after sleep deprivation, with 4 fold decrease as compared to Hcrt KO mice. Conclusion: This finding indicates that serotonergic system is a major downstream hcrt pathway to regulate cataplexy onset and duration supporting the serotonergic system as the therapeutic target for controlling cataplexy in narcolepsy patients.
Introduction: Excessive daytime sleepiness (EDS) achives a prevalence up to 30% in the adult gene... more Introduction: Excessive daytime sleepiness (EDS) achives a prevalence up to 30% in the adult general population. EDS isn't a disease per se, but a symptom associated with different sleep disorders, as well as disorders with psychiatric etiology, such as affective disorders. Authors present the case of a 21 years-old caucasian woman, without medical, psychiatric and surgical history, single and medical degree student, who in January 2016, was admitted to a Neurology outpatient care service, by a monosymptomatic complaint of exuberant EDS. This symptom made attendance and vigilance to morning classes, as well as the academic performance, impossible. It was found imperative EDS, increased total sleep time (12 hours), non-restorative long naps and sleep inertia. The Epworth Sleepiness Scale score (ESS) was 18. Patient did not report hypnagogic hallucination or sleep paralysis. She was hospitalized for investigation and from the infectious, immunological and neurological results, only hypersomnia in MSLT, with 7:44 minutes of mean latency, was revealed. No SOREM's. No abnormalities were identified in cranial CT-scan, head MRI and MR-angiography. The patient was treated with Modiodal ® in the maximum dosis of 400 mg daily, however, no clinical response was obtained. Materials and methods: This is a case report presentation. Results: In June 2016, she was referred to a Psychiatric outpatient care service, and a intrapsychic conflict was recognized, related to a neoplastic disease from her mother, three years before, but depressed mood was not objectified. In December 2016, she was referred to the Sleep Medicine Center at Coimbra Hospital and University Centre, where she performed an actigraphic study that confirmed the absence of sleep deprivation as a circadian rhythm sleep-wake disorder. A night PSG did not reveal any sleep related breathing or movement disorder, as weel as any parasomnia, as expected. The report revealed a total sleep time of 450 min, with a 95% efficiency. Three cycles of sleep were completed, and the sleep fragmentation index, by micro-arousals (MA) was 18.4 per hour. Sleep onset latency (SOL) and REM latency was 7 and 95,5 minutes, respectively. N1¼13%, N2¼50%, N3¼20% and REM¼17% were determined. Increase K-complexes, in sleep microarchitecture was reported, but no paroxysmal activity was detected. In respiratory analysis, a RDI with 5 events per hour was established, with an O2 saturation average of 97% and no saturation under 90% was detected. No periodic limb movement disorder and no EKG disturbancies were reported. Heart rate was recorded in the range of 80e110 BPM. Patient's hypersomnia symptom stabilized after a psychopharmacotherapy intervention in October 2016, with Elontril ® 150 mg id and Triticum AC ® 100 mg id. Conclusions: The etiopathological determination of a hypersomnia can be markedly demanding and sometimes inaccessible. This case thus intends to enhance the atypicity of a monoaminergic disturbance, translated by a depressive disorder, without the classic mood change.
body weight, height and body mass index with obstructive sleep apnea syndrome (OSAS) and disease ... more body weight, height and body mass index with obstructive sleep apnea syndrome (OSAS) and disease severity. Materials and methods: A total of 172 patients were included in the study. 81 (47,1%) were female and 91 (52,9%) were male. The mean age of the patients was 51,28; while the mean age of the women was 53,16 years and the mean age of the men was 49,60. Patients were divided into two groups according to apnea-hipopnea index (AHI). Apnea-hipopnea index < 5 was assumed as normal, while AHI 5 was assumed as OSAS. Also patients with OSAS were divided into three groups according to disease severity from mild to severe. Complete blood count (CBC) values of group with normal total AHI and group with OSAS were statistically compared.
Chronic obstructive pulmonary disease (COPD) is a complex and heterogeneous disease, and there is... more Chronic obstructive pulmonary disease (COPD) is a complex and heterogeneous disease, and there is a clinical need for validated markers and biomarkers that can contribute to the assessment of patients, risk prediction, treatment guidance, and assessment of response. Although according to the 2018 GOLD guidelines clinically useful biomarkers for COPD patients in stable condition have yet to be identified, several clinical markers and biomarkers have been proposed for COPD. These include isolated clinical markers, such as symptoms and Health Status assessment, exercise tests, function tests and imaging, and also composite scores and molecular markers. However, and despite strong efforts to identify useful markers in an attempt to improve prognostic and therapeutic approaches, results have not been consistent and expectations of relying on these markers in near future are faint. Current approaches to COPD have shifted from treating the disease to treating the individual patient. There is a clear need to identify treatable traits, focusing more on the patient and not on the disease, in order to implement an increasingly personalized treatment of COPD in the clinic, leading to true precision medicine. There is a need to identify combinations of clinical markers and biomarkers, genetic markers, and phenotypes that can guide the personalized therapy of COPD patients. This critical review will therefore focus not only on currently established markers and biomarkers in COPD but also on possible future approaches toward precision medicine.
Revista Portuguesa de Pneumologia (English Edition), 2016
There are currently no reliable instruments for assessing the onset and progression of chronic ob... more There are currently no reliable instruments for assessing the onset and progression of chronic obstructive pulmonary disease (COPD) or predicting its prognosis. Currently, a comprehensive assessment of COPD including several objective and subjective parameters is recommended. However, the lack of biomarkers precludes a correct assessment of COPD severity, which consequently hampers adequate therapeutic approaches and COPD control. In the absence of a definition of ''well-controlled disease'', a consensus regarding COPD control will be difficult to reach. However, COPD patient assessment should be multidimensional, and anchored in five points: control of symptoms, decline of pulmonary function, levels of physical activity, exacerbations, and Quality of Life. Several non-pharmacological and pharmacological measures are currently available to achieve disease control. Smoking cessation, vaccination, exercise training programs and pulmonary rehabilitation are recognized as important non-pharmacological measures but bronchodilators are the pivotal therapy in the control of COPD. This paper discusses several objective and subjective parameters that may bridge the gap between disease assessment and disease control. The authors conclude that, at present, it is not possible to reach a consensus regarding COPD control, essentially due to the lack of objective instruments to measure it. Some recommendations are set forth, but true COPD control awaits further objective assessments.
Revista Portuguesa de Pneumologia (English Edition), 2017
Background and objective: Autotitrating positive airway pressure (APAP) is an accepted titration ... more Background and objective: Autotitrating positive airway pressure (APAP) is an accepted titration method to determine the optimal positive airway pressure (PAP), for the treatment of obstructive sleep apnea (OSA). The required duration of APAP monitoring to determine a fixed continuous positive airway pressure level still remains to be established. We aimed to evaluate the variation in PAP level, delivered by APAP devices, at different periods of treatment, to determine the APAP treatment duration required to reach an effective and stable PAP level. Methods: A cross-sectional study of 62 patients newly diagnosed with OSA were evaluated after 3 months of APAP therapy. APAP data corresponding to the first day (D1), first week (W1), seventh week (W7) and twelfth week (W12) under APAP therapy was collected. For the analysis of the pressure behaviour, the difference of P95th pressure level between W12 and W7 (P W12-W7), W12 and W1 (P W12-W1) and W12 and D1 (P W12-D1) was calculated. Results: There was a high correlation in P95th pressure level between D1 and W12 (r = 0.771; p > 0.0001), W1 and W12 (r = 0.817; p > 0.0001), and W7 and W12 (r = 0.926; p > 0.0001). This correlation progressively increased with APAP use. A significance difference was found in concordance between P W12-W7 and P W12-D1 (p = 0.046) within the pressure range ±2 cmH 2 O. However there was no significant difference in concordance between P W12-W7 and P W12-W1. Conclusions: One week of APAP therapy seems sufficient to determine an effective and stable PAP level, within the pressure range ±2 cmH 2 O.
Revista Portuguesa de Pneumologia (English Edition), 2017
Pompe disease is a rare autosomal recessive neuromuscular disorder caused by acid ␣-glucosidase e... more Pompe disease is a rare autosomal recessive neuromuscular disorder caused by acid ␣-glucosidase enzyme (GAA) deficiency and divided into two distinct variants, infantile-and late-onset. The late-onset variant is characterized by a spectrum of phenotypic variation that may range from asymptomatic, to reduced muscle strength and/or diaphragmatic paralysis. Since muscle strength loss is characteristic of several different conditions, which may also cause diaphragmatic paralysis, a protocol was created to search for the diagnosis of Pompe disease and exclude other possible causes. Methods: We collected a sample size of 18 patients (10 females, 8 males) with a median age of 60 years and diagnosis of diaphragmatic paralysis of unknown etiology, followed in the Pulmonology outpatient consultation of 9 centers in Portugal, over a 24-month study period. We evaluated data from patient's clinical and demographic characteristics as well as complementary diagnostic tests including blood tests, imaging, neurophysiologic and respiratory function evaluation. All patients were evaluated for GAA activity with DBS (dried blood test) or serum quantification and positive results confirmed by serum quantification and sequencing. Results: Three patients were diagnosed with Pompe's disease and recommended for enzyme replacement therapy. The prevalence of Pompe, a rare disease, in our diaphragmatic paralysis patient sample was 16.8%.
Servic;o de Pneumologia (Dir. Rui Pato) e Scrvic;o de Cardiologia (Dir. Annando Gonc;:alves) do C... more Servic;o de Pneumologia (Dir. Rui Pato) e Scrvic;o de Cardiologia (Dir. Annando Gonc;:alves) do Centro Hospitalar de Coimbra RESUMO A p resen~a e magnitude da hipertensio da arteria pulmonar (HT AP) tern urn impacto negativo no progn6stico dos doentes com Insuficiencia Respirat6ria Cr6nica Grave (IRCG), definida por Pa0 2 < 65 mmBg, secundaria a Bronquite C ronica e Enfisema (BCE). 0 aumento de sobrevida destes doentes depende, em grande medida, da identifica~io precoce da HT A e da sua co rrec~io com a administra~ao de Oxigenioterapia de Longo Termo (OL T), motivo pelo qual a medi~o directa da Pressao da Arteria Pulmonar (PAP), por cateterismo de Swan-Ganz, Recebido para publica~io em 95.2. 14 Aceite para publica~io em 95.5.8
Na ELA, a colocação de PEG atenua a desnutrição resultante da disfagia bulbar e previne o engasga... more Na ELA, a colocação de PEG atenua a desnutrição resultante da disfagia bulbar e previne o engasgamento e asfixia, complicações frequentemente mortais da doença. A limitação funcional respiratória está potencialmente associada às complicações da técnica. Usámos a técnica descrita por Gauderer, na sala de endoscopia: analgesia e sedação locais. A PEG foi colocada em 26 doentes, 10 H/16M; todos tinham disfagia bulbar.
The possibility of nocturnal oxygen desaturation (NOD) in patients with chronic bronchitis and em... more The possibility of nocturnal oxygen desaturation (NOD) in patients with chronic bronchitis and emphysema (CBE) even with basal hypoxemia greater that 55 mmHg is well recognised. Nocturnal hypoventilation is admitted as the main cause for this NOD. In this study we evaluate how the presence of left ventricular dysfunction (LVD) could aggravate NOD. Thirty-six patients with CBE and basal stabilised PaO2 55-70 mmHg underwent right heart catheterisation and polysomnographic study. NOD was defined as more than 30% of total sleep time with SaO2 less than 90%; LVD was defined as capillary pressure greater than 15 mmHg. Six patients were excluded from analysis because of sleep apnoea syndrome. In the remaining 30 patients (20 men, 10 women; mean age = 65.88.6 years; mean FEV1 = 0.970.31 litres; 43.316.6% predicted; mean basal PaO2 = 61.83.6 mmHg) 8 had LVD and 18 and NOD. Patients with NOD had a greater diurnal level of hypoventilation (basal PaCO2 = 44.63.8 vs. 414.1 mmHg; p = 0.025). Pati...
The authors present the clinical of a male patient aged 45 years whose main complaints were loud ... more The authors present the clinical of a male patient aged 45 years whose main complaints were loud snoring and excessive daytime sleepiness. Polysomnographic study revealed a sleep obstructive apnea syndrome with an apnea/hypopnea index of 86.5. After being treated with nasal continuous positive air pressure, (12 cm H2O), the apneas ended and sleep architecture was corrected. Physical examination also indicated the presence of an acromegaly, and therefore, the patient was subjected to endocrinological and cerebral imagiological studies; the diagnosis confirmed it as a predisposing factor to the sleep breathing disorder. A brief literature review about the incidence of sleep apnea syndrome in acromegaly is also made; the authors conclude that there is still the need for a systematic screening of sleep breathing disorders in acromegalic patients in order to optimise the treatment and prognosis of this disorders.
Background: Cataplexy is a major symptom of narcolepsy and is defined as a sudden loss of muscle ... more Background: Cataplexy is a major symptom of narcolepsy and is defined as a sudden loss of muscle tone during wakefulness while consciousness is preserved. It is a dynamic, multi-phased process which involves different brain regions before, during and after its occurrence. Monoaminergic neuronal populations that are important wakepromoting systems play also an important role in pathophysiology of narcolepsy with cataplexy. In this work we sought to understand if the modulation of the serotonin transmission can influence cataplexy occurrence in mice. Methods: The mice were implanted with EEG electrodes and EMBLA TM hardware was used for signal acquisition and Somnologica-3 TM (Medcare) software for data analysis. High resolution camera also was used to record animal behavior during different vigilance state. Result: Our results showed that introducing a null 5-HTT gene (serotonin transporter) in the animal model of cataplexy (Hcrt KO mice) greatly reduced cataplectic attacks but REM sleep amount increased. This decrease in cataplexy was even more pronounced after sleep deprivation, with 4 fold decrease as compared to Hcrt KO mice. Conclusion: This finding indicates that serotonergic system is a major downstream hcrt pathway to regulate cataplexy onset and duration supporting the serotonergic system as the therapeutic target for controlling cataplexy in narcolepsy patients.
Introduction: Excessive daytime sleepiness (EDS) achives a prevalence up to 30% in the adult gene... more Introduction: Excessive daytime sleepiness (EDS) achives a prevalence up to 30% in the adult general population. EDS isn't a disease per se, but a symptom associated with different sleep disorders, as well as disorders with psychiatric etiology, such as affective disorders. Authors present the case of a 21 years-old caucasian woman, without medical, psychiatric and surgical history, single and medical degree student, who in January 2016, was admitted to a Neurology outpatient care service, by a monosymptomatic complaint of exuberant EDS. This symptom made attendance and vigilance to morning classes, as well as the academic performance, impossible. It was found imperative EDS, increased total sleep time (12 hours), non-restorative long naps and sleep inertia. The Epworth Sleepiness Scale score (ESS) was 18. Patient did not report hypnagogic hallucination or sleep paralysis. She was hospitalized for investigation and from the infectious, immunological and neurological results, only hypersomnia in MSLT, with 7:44 minutes of mean latency, was revealed. No SOREM's. No abnormalities were identified in cranial CT-scan, head MRI and MR-angiography. The patient was treated with Modiodal ® in the maximum dosis of 400 mg daily, however, no clinical response was obtained. Materials and methods: This is a case report presentation. Results: In June 2016, she was referred to a Psychiatric outpatient care service, and a intrapsychic conflict was recognized, related to a neoplastic disease from her mother, three years before, but depressed mood was not objectified. In December 2016, she was referred to the Sleep Medicine Center at Coimbra Hospital and University Centre, where she performed an actigraphic study that confirmed the absence of sleep deprivation as a circadian rhythm sleep-wake disorder. A night PSG did not reveal any sleep related breathing or movement disorder, as weel as any parasomnia, as expected. The report revealed a total sleep time of 450 min, with a 95% efficiency. Three cycles of sleep were completed, and the sleep fragmentation index, by micro-arousals (MA) was 18.4 per hour. Sleep onset latency (SOL) and REM latency was 7 and 95,5 minutes, respectively. N1¼13%, N2¼50%, N3¼20% and REM¼17% were determined. Increase K-complexes, in sleep microarchitecture was reported, but no paroxysmal activity was detected. In respiratory analysis, a RDI with 5 events per hour was established, with an O2 saturation average of 97% and no saturation under 90% was detected. No periodic limb movement disorder and no EKG disturbancies were reported. Heart rate was recorded in the range of 80e110 BPM. Patient's hypersomnia symptom stabilized after a psychopharmacotherapy intervention in October 2016, with Elontril ® 150 mg id and Triticum AC ® 100 mg id. Conclusions: The etiopathological determination of a hypersomnia can be markedly demanding and sometimes inaccessible. This case thus intends to enhance the atypicity of a monoaminergic disturbance, translated by a depressive disorder, without the classic mood change.
body weight, height and body mass index with obstructive sleep apnea syndrome (OSAS) and disease ... more body weight, height and body mass index with obstructive sleep apnea syndrome (OSAS) and disease severity. Materials and methods: A total of 172 patients were included in the study. 81 (47,1%) were female and 91 (52,9%) were male. The mean age of the patients was 51,28; while the mean age of the women was 53,16 years and the mean age of the men was 49,60. Patients were divided into two groups according to apnea-hipopnea index (AHI). Apnea-hipopnea index < 5 was assumed as normal, while AHI 5 was assumed as OSAS. Also patients with OSAS were divided into three groups according to disease severity from mild to severe. Complete blood count (CBC) values of group with normal total AHI and group with OSAS were statistically compared.
Chronic obstructive pulmonary disease (COPD) is a complex and heterogeneous disease, and there is... more Chronic obstructive pulmonary disease (COPD) is a complex and heterogeneous disease, and there is a clinical need for validated markers and biomarkers that can contribute to the assessment of patients, risk prediction, treatment guidance, and assessment of response. Although according to the 2018 GOLD guidelines clinically useful biomarkers for COPD patients in stable condition have yet to be identified, several clinical markers and biomarkers have been proposed for COPD. These include isolated clinical markers, such as symptoms and Health Status assessment, exercise tests, function tests and imaging, and also composite scores and molecular markers. However, and despite strong efforts to identify useful markers in an attempt to improve prognostic and therapeutic approaches, results have not been consistent and expectations of relying on these markers in near future are faint. Current approaches to COPD have shifted from treating the disease to treating the individual patient. There is a clear need to identify treatable traits, focusing more on the patient and not on the disease, in order to implement an increasingly personalized treatment of COPD in the clinic, leading to true precision medicine. There is a need to identify combinations of clinical markers and biomarkers, genetic markers, and phenotypes that can guide the personalized therapy of COPD patients. This critical review will therefore focus not only on currently established markers and biomarkers in COPD but also on possible future approaches toward precision medicine.
Revista Portuguesa de Pneumologia (English Edition), 2016
There are currently no reliable instruments for assessing the onset and progression of chronic ob... more There are currently no reliable instruments for assessing the onset and progression of chronic obstructive pulmonary disease (COPD) or predicting its prognosis. Currently, a comprehensive assessment of COPD including several objective and subjective parameters is recommended. However, the lack of biomarkers precludes a correct assessment of COPD severity, which consequently hampers adequate therapeutic approaches and COPD control. In the absence of a definition of ''well-controlled disease'', a consensus regarding COPD control will be difficult to reach. However, COPD patient assessment should be multidimensional, and anchored in five points: control of symptoms, decline of pulmonary function, levels of physical activity, exacerbations, and Quality of Life. Several non-pharmacological and pharmacological measures are currently available to achieve disease control. Smoking cessation, vaccination, exercise training programs and pulmonary rehabilitation are recognized as important non-pharmacological measures but bronchodilators are the pivotal therapy in the control of COPD. This paper discusses several objective and subjective parameters that may bridge the gap between disease assessment and disease control. The authors conclude that, at present, it is not possible to reach a consensus regarding COPD control, essentially due to the lack of objective instruments to measure it. Some recommendations are set forth, but true COPD control awaits further objective assessments.
Revista Portuguesa de Pneumologia (English Edition), 2017
Background and objective: Autotitrating positive airway pressure (APAP) is an accepted titration ... more Background and objective: Autotitrating positive airway pressure (APAP) is an accepted titration method to determine the optimal positive airway pressure (PAP), for the treatment of obstructive sleep apnea (OSA). The required duration of APAP monitoring to determine a fixed continuous positive airway pressure level still remains to be established. We aimed to evaluate the variation in PAP level, delivered by APAP devices, at different periods of treatment, to determine the APAP treatment duration required to reach an effective and stable PAP level. Methods: A cross-sectional study of 62 patients newly diagnosed with OSA were evaluated after 3 months of APAP therapy. APAP data corresponding to the first day (D1), first week (W1), seventh week (W7) and twelfth week (W12) under APAP therapy was collected. For the analysis of the pressure behaviour, the difference of P95th pressure level between W12 and W7 (P W12-W7), W12 and W1 (P W12-W1) and W12 and D1 (P W12-D1) was calculated. Results: There was a high correlation in P95th pressure level between D1 and W12 (r = 0.771; p > 0.0001), W1 and W12 (r = 0.817; p > 0.0001), and W7 and W12 (r = 0.926; p > 0.0001). This correlation progressively increased with APAP use. A significance difference was found in concordance between P W12-W7 and P W12-D1 (p = 0.046) within the pressure range ±2 cmH 2 O. However there was no significant difference in concordance between P W12-W7 and P W12-W1. Conclusions: One week of APAP therapy seems sufficient to determine an effective and stable PAP level, within the pressure range ±2 cmH 2 O.
Revista Portuguesa de Pneumologia (English Edition), 2017
Pompe disease is a rare autosomal recessive neuromuscular disorder caused by acid ␣-glucosidase e... more Pompe disease is a rare autosomal recessive neuromuscular disorder caused by acid ␣-glucosidase enzyme (GAA) deficiency and divided into two distinct variants, infantile-and late-onset. The late-onset variant is characterized by a spectrum of phenotypic variation that may range from asymptomatic, to reduced muscle strength and/or diaphragmatic paralysis. Since muscle strength loss is characteristic of several different conditions, which may also cause diaphragmatic paralysis, a protocol was created to search for the diagnosis of Pompe disease and exclude other possible causes. Methods: We collected a sample size of 18 patients (10 females, 8 males) with a median age of 60 years and diagnosis of diaphragmatic paralysis of unknown etiology, followed in the Pulmonology outpatient consultation of 9 centers in Portugal, over a 24-month study period. We evaluated data from patient's clinical and demographic characteristics as well as complementary diagnostic tests including blood tests, imaging, neurophysiologic and respiratory function evaluation. All patients were evaluated for GAA activity with DBS (dried blood test) or serum quantification and positive results confirmed by serum quantification and sequencing. Results: Three patients were diagnosed with Pompe's disease and recommended for enzyme replacement therapy. The prevalence of Pompe, a rare disease, in our diaphragmatic paralysis patient sample was 16.8%.
Servic;o de Pneumologia (Dir. Rui Pato) e Scrvic;o de Cardiologia (Dir. Annando Gonc;:alves) do C... more Servic;o de Pneumologia (Dir. Rui Pato) e Scrvic;o de Cardiologia (Dir. Annando Gonc;:alves) do Centro Hospitalar de Coimbra RESUMO A p resen~a e magnitude da hipertensio da arteria pulmonar (HT AP) tern urn impacto negativo no progn6stico dos doentes com Insuficiencia Respirat6ria Cr6nica Grave (IRCG), definida por Pa0 2 < 65 mmBg, secundaria a Bronquite C ronica e Enfisema (BCE). 0 aumento de sobrevida destes doentes depende, em grande medida, da identifica~io precoce da HT A e da sua co rrec~io com a administra~ao de Oxigenioterapia de Longo Termo (OL T), motivo pelo qual a medi~o directa da Pressao da Arteria Pulmonar (PAP), por cateterismo de Swan-Ganz, Recebido para publica~io em 95.2. 14 Aceite para publica~io em 95.5.8
Na ELA, a colocação de PEG atenua a desnutrição resultante da disfagia bulbar e previne o engasga... more Na ELA, a colocação de PEG atenua a desnutrição resultante da disfagia bulbar e previne o engasgamento e asfixia, complicações frequentemente mortais da doença. A limitação funcional respiratória está potencialmente associada às complicações da técnica. Usámos a técnica descrita por Gauderer, na sala de endoscopia: analgesia e sedação locais. A PEG foi colocada em 26 doentes, 10 H/16M; todos tinham disfagia bulbar.
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