Deoxynucleoside therapy for respiratory involvement in adult patients with thymidine kinase 2-deficient myopathy

BackgroundRecessive mutations in the thymidine kinase 2 (TK2) gene cause a rare mitochondrial myopathy, frequently with severe respiratory involvement. Deoxynucleoside therapy is currently under investigation.Research questionWhat is the impact of nucleosides in respiratory function in patients with TK2-deficient myopathy?Study design and methodsRetrospective observational study of patients treated with deoxycytidine and deoxythymidine. Evaluations were performed every 3 to 4 months after treatment during approximately 30 months. Forced vital capacity (FVC), maximuminspiratory and expiratory pressures (MIP/MEP), sniff nasal inspiratory pressure (SNIP), cough peak flow (CPF), arterial blood gas and nocturnal pulse oximeter (SpO2) were collected.ResultsWe studied six patients, five of which were women, with a median age at onset of symptoms was 35.8 (range 5 to 60) years old. Patients presented a restrictive ventilatory pattern (median FVC of 50 (26 to 71)%) and severe neuromuscular respiratory weakness (MIP 38 (12 to 47)% and SNIP 14 (8 to 19) cmH2O). Four patients required ventilatory support before starting the treatment. FVC improved by 6%, proportion of sleep time with SpO2 <90% diminished from 14% to 0%, CPF increased by 23%, MEP increased by 73%, production and management of bronchial secretions improved and respiratory infections diminished.InterpretationEarly detection of respiratory involvement requires an active search, even in asymptomatic patients. The nucleosides therapy may improve respiratory function, and stabilise the loss of respiratory capacity.

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Impact of sex and age on carotid plaque instability in asymptomatic patients-results from the Munich Vascular Biobank

VASA ◽

10.1024/0301-1526/a000557 ◽

2016 ◽

Vol 45 (5) ◽

pp. 411-416 ◽

Cited By ~ 11

Author(s):

Carina Wendorff ◽

Heiko Wendorff ◽

Andreas Kuehnl ◽

Pavlos Tsantilas ◽

Michael Kallmayer ◽

...

Keyword(s):

Carotid Plaque ◽

Statistical Significance ◽

Old Patients ◽

Continuous Increase ◽

Plaque Instability ◽

Female Sex ◽

Asymptomatic Patients ◽

Unstable Plaques ◽

The Impact ◽

Asymptomatic Men

Abstract. Background: It is still a controversial issue whether carotid endarterectomy (CEA) for asymptomatic carotid stenosis is superior to best medical treatment. The aim of this study was therefore to analyze the impact of sex and age on carotid plaque instability in asymptomatic patients undergoing CEA. Patients and methods: Atherosclerotic plaques from 465 asymptomatic patients with high-grade carotid artery stenosis (2004 - 2013) at the Munich Vascular Biobank were analyzed. Ascertainment of lesion stability/instability was performed on formalin-fixed paraffin-embedded tissue samples using hematoxylin-eosin and elastic van Gieson staining. Unstable plaques were considered lesions with a fibrous cap < 200 µm overlaying lipid-rich atheroma. Results: The average age of the patients was 69.3 ± 8.2 years. Independent of age, asymptomatic men had in total more frequently unstable plaques in contrast to women (41 % versus 52%, p = 0.042). No differences were found in plaque instability between age-related quartiles (< 65, 65- 69, 70 - 74, > 74 years) for female sex (p = 0.422). In men, a continuous increase in plaque instability with age was observed, without achieving statistical significance (p = 0.125). The greatest differences between male and female sex were found in the last quartile (> 74 years), without achieving statistical significance (p = 0.053). The chance of unstable carotid plaques in men was significantly higher than in women (OR = 1.562, p = 0.040). The probability of age-associated quartiles related to the first quartile demonstrated significant increase in plaque instability in the group of 65- to 69-year-old patients (OR 1.867, p = 0.024) and for patients older than 74 years (OR 1.740, p = 0.040). Conclusions: Asymptomatic men had in total more frequently unstable plaques in contrast to women. Thus, male sex seems to be an additional risk factor for ischemic stroke.

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Basic Pediatric Hemodynamic Monitoring

10.1093/med/9780199918027.003.0005 ◽

2017 ◽

Author(s):

Jorge G. Sainz ◽

Bradley P. Fuhrman

Keyword(s):

Venous Return ◽

Venous Pressure ◽

Ventilatory Support ◽

Abdominal Pressure ◽

Arterial Blood ◽

Technological Advances ◽

Vascular Catheters ◽

Fluid Collections ◽

End Tidal ◽

The Impact

Physiological monitoring using a variety of technological advances supplements, but does not replace, our ability to distinguish normal from abnormal physiology traditionally gleaned from physical examination. Pulse oximetry uses the wavelengths of saturated and unsaturated hemoglobin to estimate arterial oxygenation noninvasively. Similar technology included on vascular catheters provides estimation of central or mixed venous oxygenation and helps assess the adequacy of oxygen delivered to tissues. End-tidal carbon dioxide measurements contribute to the assessment of ventilation. Systemic arterial blood pressure and central venous pressure measurements help evaluate cardiac performance, including the impact of ventilatory support. Intra-abdominal pressure may increase as a result of intraluminal air or fluid, abnormal fluid collections within the peritoneal cavity, or abnormal masses. Increased pressure may impede venous return to the heart and compromise intra-abdominal organ perfusion. Pressure measurement guides related management decisions.

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Benefit of the first phase of the cardiac rehabilitation after cardiac surgery

Praxis medica ◽

10.5937/pramed2004013n ◽

2020 ◽

Vol 49 (3-4) ◽

pp. 13-17

Author(s):

Sonja Nejkov ◽

Nataša Đukić-Macut ◽

Vesna Bokan-Mirković

Keyword(s):

Mechanical Ventilation ◽

Cardiac Surgery ◽

Cardiac Rehabilitation ◽

Functional Capacity ◽

Respiratory Function ◽

Pulmonary Complications ◽

Medical Documentation ◽

P Value ◽

Arterial Blood ◽

The Impact

Introduction: Cardiovascular diseases (CVD) are leading factor in global mortality and morbidity. It is the cause of 1/3 of total annual mortality, while coronary heart disease (CHD), as one of the CVD entities, is responsible for 85% of deaths worldwide. The aim of the study is to show the importance of the first phase of cardiac rehabilitation (CR) in patients who are going on cardiac surgery, as well as the impact on respiratory function, the occurrence of pulmonary complications and the length of hospitalization. Methods: A sample of 18 patients was included in the randomized observer study. First phase of CR was carried out according to a predefined protocol. We used arterial blood gases (ABG) to evaluate the respiratory function, "two-minute walk test" (2MWT) to assess the functional capacity Data taken from medical documentation are the duration of mechanical ventilation (MV), the length of stay in the ICU, occurrence of the postoperative pulmonary complications and duration of total hospitalization. Results: The test sample consisted of 12 men (60.58 ± 8.33) and 6 women (66.00 ± 6.51). The mean value of CR was 6.15 ± 3.98 days and MV 19,67±11,23 hours. There were no pulmonary complications in 61,11% patients. Using ABG, a statistically significant difference was found in PO2 after extubating and at the last day in ICU (p = 0.01). 2MWT preoperatively significantly correlated with the examined on the last day of hospitalization (r = 0.648 p-value <0.001) well as the length of postoperative hospitalization and duration of mechanical ventilation (r = 0.708 p-value <0.001). Conclusion: The study showed that first phase of cardiac rehabilitation may positively affect the improvement of functional capacity.

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Patients With a History of Oronasal Fistula Repair Exhibit Lower Oral Health Measured With Patient-Centric Outcomes Measures

The Cleft Palate-Craniofacial Journal ◽

10.1177/1055665620981331 ◽

2020 ◽

pp. 105566562098133

Author(s):

Alyssa Fritz ◽

Diana S. Jodeh ◽

Fatima Qamar ◽

James J. Cray ◽

S. Alex Rottgers

Keyword(s):

Quality Of Life ◽

Oral Health ◽

Cleft Palate ◽

Fistula Repair ◽

Old Patients ◽

Oronasal Fistula ◽

Patient Reported ◽

History Of ◽

The Impact

Introduction: Oronasal fistulae following palatoplasty may affect patients’ quality of life by impacting their ability to eat, speak, and maintain oral hygiene. We aimed to quantify the impact of previous oronasal fistula repair on patients’ quality of life using patient-reported outcome psychometric tools. Methods: A cross-sectional study of 8- to 9-year-old patients with cleft palate and/or lip was completed. Patients who had a cleft team clinic between September 2018 and August 2019 were recruited. Participants were divided into 2 groups (no fistula, prior fistula repair). Differences in the individual CLEFT-Q and Child Oral Health Impact Profile-Short Form 19 (COHIP-SF 19) Oral Health scores between the 2 groups were evaluated using a multivariate analysis controlling for Veau classification and syndromic diagnosis. Results: Sixty patients with a history of cleft palate were included. Forty-two (70%) patients had an associated cleft lip. Thirty-two (53.3%) patients had no history of fistula and 28 (46.7%) patients had undergone a fistula repair. CLEFT-Q Dental, Jaw, and Speech Function were all higher in patients without a history of a fistula repair; however, none of these differences were statistically significant. The COHIP-SF 19 Oral Health score demonstrated a significantly lower score in the fistula group, indicating poorer oral health ( P = .05). Conclusions: One would expect that successful repair of a fistula would result in improved function and patient satisfaction, but the consistent trend toward lower CLEFT-Q scores and significantly increased COHIP-SF 19 Oral Health scores in our study group suggests that residual effects linger and that the morbidity of a fistula may not be completely treated with a secondary correction.

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Elimination of nasal obstruction improves pulmonary functions and oxygenation

Egyptian Journal of Bronchology ◽

10.1186/s43168-021-00079-6 ◽

2021 ◽

Vol 15 (1) ◽

Author(s):

Eman Sobh ◽

Fatma Elhussieny ◽

Taghreed Ismail

Keyword(s):

Nasal Obstruction ◽

Blood Gases ◽

Medical Problem ◽

Forced Expiratory Volume ◽

Nasal Packing ◽

Nasal Pack ◽

Arterial Blood ◽

Study Population ◽

The Mean ◽

The Impact

Abstract Background Nasal obstruction is a significant medical problem. This study aimed to examine the effect of nasal obstruction and nasal packing on arterial blood gases and pulmonary function indices, and the impact of the elimination of nasal obstruction on preoperative values. Results The mean age of the study population was 26.6 ± 10.1 years, males represented 50.8%. Spirometric indices showed statistically significant improvement (preoperative forced expiratory volume in 1st second 66.9 ± 13.9 vs 79.6 ± 14.9 postoperative and preoperative forced vital capacity 65.5 ± 12.7 vs 80.4 ± 13.8 postoperative). Oxygen saturation was significantly lower during nasal packing (95.6 ± 1.6 preoperative vs 94.7 ± 2.8 with nasal pack), and significant improvement (97.2 ± 1.4) was observed after removal of the nasal pack. Nasal obstruction scores significantly improved. Conclusion The results of this study indicate that either simple nasal obstruction or nasal packing may cause hypoxemia and abnormalities in lung function tests. Hypoxemia was more evident with nasal packing.

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Performance of Unobserved Self-Collected Nasal Swabs for Detection of SARS-CoV-2 by RT-PCR Utilizing a Remote Specimen Collection Strategy

Open Forum Infectious Diseases ◽

10.1093/ofid/ofab039 ◽

2021 ◽

Author(s):

Ron M Kagan ◽

Amy A Rogers ◽

Gwynngelle A Borillo ◽

Nigel J Clarke ◽

Elizabeth M Marlowe

Keyword(s):

Return To Work ◽

Screening Program ◽

False Negative ◽

N Gene ◽

Rt Pcr ◽

Pooled Testing ◽

Specimen Collection ◽

Asymptomatic Patients ◽

Nasal Swabs ◽

The Impact

Abstract Background The use of a remote specimen collection strategy employing a kit designed for unobserved self-collection for SARS-CoV-2 RT-PCR can decrease the use of PPE and exposure risk. To assess the impact of unobserved specimen self-collection on test performance, we examined results from a SARS-CoV-2 qualitative RT-PCR test for self-collected specimens from participants in a return-to-work screening program and assessed the impact of a pooled testing strategy in this cohort. Methods Self-collected anterior nasal swabs from employee return to work programs were tested using the Quest Diagnostics SARS-CoV-2 RT-PCR EUA. The Ct values for the N1 and N3 N-gene targets and a human RNase P (RP) gene control target were tabulated. For comparison, we utilized Ct values from a cohort of HCP-collected specimens from patients with and without COVID-19 symptoms. Results Among 47,923 participants, 1.8% were positive. RP failed to amplify for 13/115,435 (0.011%) specimens. The median (IQR) Cts were 32.7 (25.0-35.7) for N1 and 31.3 (23.8-34.2) for N3. Median Ct values in the self-collected cohort were significantly higher than those of symptomatic, but not asymptomatic patients. Based on Ct values, pooled testing with 4 specimens would have yielded inconclusive results in 67/1,268 (5.2%) specimens but only a single false-negative result. Conclusions Unobserved self-collection of nasal swabs provides adequate sampling for SARS-CoV-2 RT-PCR testing. These findings alleviate concerns of increased false negatives in this context. Specimen pooling could be used for this population as the likelihood of false negative results is very low due when using a sensitive, dual-target methodology.

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Effect of unilateral resistance training on arterial compliance in elderly men

Applied Physiology Nutrition and Metabolism ◽

10.1139/h07-048 ◽

2007 ◽

Vol 32 (4) ◽

pp. 670-676 ◽

Cited By ~ 9

Author(s):

Fleur Poelkens ◽

Mark Rakobowchuk ◽

Kirsten A. Burgomaster ◽

Maria T.E. Hopman ◽

Stuart M. Phillips ◽

...

Keyword(s):

Blood Pressure ◽

Resistance Training ◽

Arterial Compliance ◽

Stiffness Index ◽

Elderly Men ◽

Arterial Diameter ◽

Healthy Elderly ◽

Arterial Blood ◽

The Impact ◽

Peak Blood

An increase in age coincides with a decrease in arterial compliance, which is related to a higher risk for cardiovascular accidents. Evidence regarding the effects of resistance training on arterial compliance is conflicting. Currently, little information is available about the effect of resistance training on arterial compliance in elderly men. We assessed the impact of 10 weeks of unilateral arm and leg resistance training on carotid, brachial, and femoral arterial compliance in 12 healthy elderly men (mean age ± SD, 71 ± 7 y). Arterial compliance was evaluated before, after 4 weeks, and after 10 weeks of unilateral resistance training by simultaneously measuring arterial diameter and blood pressure in each artery. There were no significant differences in arterial compliance or stiffness index in any of the arteries examined after 10 weeks of training. However, after 10 weeks of resistance training, resting heart rate decreased from 76 ± 4 beats/min to 61 ± 3 beats/min (p < 0.05), plasma glucose decreased from 6.0 ± 0.9 to 5.1 ± 0.9 mmol/L (mean ± SE) (p < 0.05), and carotid artery peak blood flow increased from 1831 mL/min to 2245 mL/min (p < 0.05). There were no significant changes in resting arterial blood pressure. Unilateral resistance training for 10 weeks does not alter peripheral and central arterial compliance elderly men.

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Dilutional Acidosis following Hetastarch or Albumin in Healthy Volunteers

Anesthesiology ◽

10.1097/00000542-200011000-00008 ◽

2000 ◽

Vol 93 (5) ◽

pp. 1184-1187 ◽

Cited By ~ 61

Author(s):

Jonathan H. Waters ◽

Clifford A. Bernstein

Keyword(s):

Healthy Volunteers ◽

Repeated Measures ◽

Base Excess ◽

Rank Test ◽

Albumin Concentration ◽

Acid Base Balance ◽

Arterial Blood Gas ◽

Arterial Blood ◽

The Impact

Background The intent of this study was to evaluate the impact of the commonly used colloids-hetastarch and albumin-on in vivo acid-base balance. From this evaluation, a better understanding of the mechanism of dilutional acidosis was expected. Methods In a prospective, randomized fashion, 11 healthy volunteers were administered 15 ml/kg hetastarch solution, 6%, or 15 ml/kg albumin, 5%, intravenously over 30 min. Four weeks later, the study subjects were administered the other colloid. Arterial blood gas and electrolyte parameters were measured at baseline and at 30, 60, 90, 120, 210, and 300 min after colloid administration. Pre- and postlaboratory values were compared within groups using a paired t test and a Wilcoxon signed rank test and between groups using repeated-measures analysis of variance and a Wilcoxon rank sum test. Results Thirty min after infusion, subjects who were administered hetastarch showed statistically significant changes (P < 0.05) in base excess (from 2.5 +/- 0.9 mEq/l to 0.7 +/- 1.1 mEq/l), HCO3- concentration (from 27 +/- 1.0 mEq/l to 25 +/- 1.3 mEq/l), Cl- concentration (from 108 +/- 2 mEq/l to 112 +/- 2 mEq/l), albumin concentration (from 4.4 +/- 0.2 g/dl to 3.5 +/- 0.5 g/dl), and arterial carbon dioxide tension (Paco2; from 40.8 +/- 2.3 mmHg to 39. 2 +/- 3.2 mmHg), whereas only the albumin concentration (from 4.4 +/- 0.2 g/dl to 4.8 +/- 0.6 g/dl) changed significantly in the albumin-treated group. Conclusions Decreases in base excess were observed for 210 min after hetastarch administration but not after albumin. The mechanism for this difference is discussed.

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Effect of mechanical pressure-controlled ventilation in patients with disturbed respiratory function during laparoscopic cholecystectomy

Vojnosanitetski pregled ◽

10.2298/vsp1301009s ◽

2013 ◽

Vol 70 (1) ◽

pp. 9-15

Author(s):

Maja Surbatovic ◽

Zoran Vesic ◽

Dragan Djordjevic ◽

Sonja Radakovic ◽

Snjezana Zeba ◽

...

Keyword(s):

Laparoscopic Cholecystectomy ◽

Respiratory Function ◽

Respiratory Diseases ◽

Positive Pressure ◽

Time Interval ◽

Time Intervals ◽

Controlled Ventilation ◽

Arterial Blood ◽

Pressure Controlled Ventilation ◽

Pressure Controlled

Background/Aim: Laparoscopic cholecystectomy is considered to be the gold standard for laparoscopic surgical procedures. In ASA III patients with concomitant respiratory diseases, however, creation of pneumoperitoneum and the position of patients during surgery exert additional negative effect on intraoperative respiratory function, thus making a higher challenge for the anesthesiologist than for the surgeon. The aim of this study was to compare the effect of intermittent positive pressure ventilation (IPPV) and pressure controlled ventilation (PCV) during general anesthesia on respiratory function in ASA III patients submitted to laparoscopic cholecystectomy. Methods. The study included 60 patients randomized into two groups depending on the mode of ventilation: IPPV or PCV. Respiratory volume (VT), peak inspiratory pressure (PIP), compliance (C), end-tidal CO2 pressure (PETCO2), oxygen saturation (SpO2), partial pressures of O2, CO2 (PaO2 and PaCO2) and pH of arterial blood were recorded within four time intervals. Results. There were no statistically significant differences in VT, SpO2, PaO2, PaCO2 and pH values neither within nor between the two groups. In time interval t1 there were no statistically significant differences in PIP, C, PETCO2 values between the IPPV and the PCV group. But, in the next three time intervals there was a difference in PIP, C, and PETCO2 values between the two groups which ranged from statistically significant to highly significant; PIP was lower, C and PETCO2 were higher in the PCV group. Conclusion. Pressure controlled ventilation better maintains stability regarding intraoperative ventilatory parameters in ASA III patients with concomitant respiratory diseases during laparoscopic cholecystectomy.

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Outcomes of radiocephalic arteriovenous fistula in octogenarians

The Journal of Vascular Access ◽

10.1177/11297298211015498 ◽

2021 ◽

pp. 112972982110154

Author(s):

Raffaella Mauro ◽

Alessia Pini ◽

Rodolfo Pini ◽

Mohammad Abualhin ◽

Chiara Mascoli ◽

...

Keyword(s):

Arteriovenous Fistula ◽

Previous History ◽

Venous Catheter ◽

Dialysis Session ◽

Old Patients ◽

Younger Patients ◽

First Choice ◽

Clinical Surveillance ◽

History Of ◽

The Impact

Background: Current guidelines recommend radiocephalic arteriovenous fistula (RCAVF) as a first choice access for hemodialysis, without specific indication for octogenarians .This study was undertaken to assess the efficacy of RCAVF in octogenarians compared with younger patients. Material and methods: All patients treated by RCAVF from January 2013 to December 2017 were included in a prospective database for a retrospective analysis. Patient demographics, comorbidities, and dialytic treatment data were collected prospectively and compared in patients <80 year-old and ⩾80 years-old. Clinical surveillance was performed during each dialysis session. The main endpoints were primary (PP) and assisted patency (AP). Results: Within the study period, a total of 294 RCAVF were analyzed: 245 (83.3%) RCAVF were performed in <80 year-old and 49 (16.7%) ⩾80 years old. The overall PP and AP at 2-year was 69% ± 2% and 73% ± 3%, respectively. Patients ⩾ 80 years-old had a significantly reduced 2-year PP, AP of RCAVF compared with the younger patients: 50% ± 8% and 62% ± 7% versus 73% ± 3% and 75% ± 3%, p = 0.01 and p = 0.03, respectively. The analysis for possible risk factors for reduction of PP in patients ⩾80 years identified in the central venous catheter(CVC) a predictor of earlier RCAVF failure: HR 3.03(95% CI 1.29–7.13), p = 0.01.Kaplan–Meier curve confirms the reduction of PP in ⩾80 years old patients at 2-year follow-up with previous CVC compared patients without history of CVC: 59% ± 10% versus 24% ± 11%, p = 0.01. A comparison between the two groups was made in order to evaluate the impact of previous history of CVC .In absence of a history of CVC use older patients had a similar 2-year PP compared with younger patients: 59% ± 10% versus 72% ± 4%, p = 0.46. Otherwise, the history of a previous CVC reduced significantly the 2-year PP in ⩾80 years old patients compared the younger: 24% ± 12% versus 75% ± 5%, p = 0.0001. Conclusions: Despite lower overall primary and primary assisted patency, RCAVF are associated with satisfactory results also in octogenarians if performed in absence of history of CVC. Under these circumstances RCAVF can be considered a first choice treatment.

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