scholarly journals Congenital central hypoventilation syndrome: a bedside-to-bench success story for advancing early diagnosis and treatment and improved survival and quality of life

2016 ◽  
Vol 81 (1-2) ◽  
pp. 192-201 ◽  
Author(s):  
Debra E. Weese-Mayer ◽  
Casey M. Rand ◽  
Amy Zhou ◽  
Michael S. Carroll ◽  
Carl E. Hunt
Keyword(s):  
Quality Of Life ◽  
Early Diagnosis ◽  
Diagnosis And Treatment ◽  
Congenital Central Hypoventilation Syndrome ◽  
Success Story ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome

848 Refractory Hypoventilation in Congenital Central Hypoventilation Syndrome: A Case for Average Volume-Assured Pressure Support

SLEEP ◽  
2021 ◽  
Vol 44 (Supplement_2) ◽  
pp. A330-A330
Author(s):  
Megan Gubichuk ◽  
Erin McHugh ◽  
Sonal Malhotra ◽  
Marianna Sockrider ◽  
Binal Kancherla
Keyword(s):  
Quality Of Life ◽  
Phrenic Nerve ◽  
Pressure Support ◽  
Ventilatory Support ◽  
Congenital Central Hypoventilation Syndrome ◽  
Average Volume ◽  
Non Invasive ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome

Abstract Introduction Congenital Central Hypoventilation Syndrome (CCHS) is a rare cause of alveolar hypoventilation in children resulting in lifelong ventilatory support. In older children requiring nocturnal support alone, the use of diaphragmatic pacing in conjunction with or independent of non-invasive ventilatory (NIV) support has been demonstrated to improve quality of life. We present a case of refractory hypoventilation despite escalation of NIV. Report of case(s) 20-year-old female with Hirschsprung’s disease and CCHS (20/26 polyalanine repeats) with history of invasive ventilation via tracheostomy who underwent bilateral diaphragmatic phrenic nerve stimulator placement at 13 years-of-age with subsequent tracheostomy decannulation. Diaphragmatic pacing was discontinued three years later in the setting of pneumonia and patient discomfort because of receiver positioning. At that time, she had improved subjective sleep quality and adequate ventilatory support on bi-level positive airway pressure (PAP) despite discontinuation of diaphragmatic pacing. Titration of bi-level PAP was done via polysomnogram four years later demonstrating nocturnal hypoventilation with transcutaneous CO2 values greater than 50 mmHg for 80% of the study and an oxygen nadir of 87% despite titration of inspiratory pressure and respiratory rate to maximize ventilatory assistance. The patient was subsequently admitted to the intensive care unit for transition to non-invasive average volume-assured pressure support (AVAPS) mode. Ventilation improved with nocturnal pCO2 values via capillary blood gas of 31 mmHg and 45 mmHg at 2 am and 6 am respectively. The patient was discharged on AVAPS therapy while undergoing evaluation to resume diaphragmatic pacing via cervical phrenic nerve stimulators for improved comfort. Conclusion Several ventilatory strategies may be employed in the care of patients with CCHS, with individualization of support based on phenotype, comorbidities, and patient and family preference. This case highlights the unique challenges of adequately ventilating patients as they age. The use of NIV via an AVAPS mode in patients with CCHS has been infrequently reported in the literature, though is promising in reported efficacy with regards to ensured ventilation. This, in conjunction with diaphragmatic pacing, may allow patients to achieve appropriate ventilation while maintaining quality of life, and could be considered in patients with refractory hypoventilation despite other modes of NIV. Support (if any):

scholarly journals CLINICAL CASE OF SUCCESSFUL REHABILITATION OF A CHILD WITH UNDINE SYNDROME (CCHS-CONGENITAL CENTRAL HYPOVENTILATION SYNDROME, ONDINE SYNDROME, OMIM 209880)

2017 ◽  
Vol 4 (2) ◽  
pp. 91-95
Author(s):  
Yuliya Grechanina ◽  
Elena Bugaeva ◽  
Svitlana Biletska
Keyword(s):  
Quality Of Life ◽  
Mitochondrial Dysfunction ◽  
Metabolic Disorders ◽  
Clinical Case ◽  
Monogenic Disease ◽  
Congenital Central Hypoventilation Syndrome ◽  
Central Hypoventilation ◽  
Successful Rehabilitation ◽  
Hypoventilation Syndrome

Grechanina Yu., Bugaeva E., Biletska S.The article describes the case of the combination of an orphan monogenic disease (Undine syndrome) with a violation of the methylation cycle (epigenetic status) and mitochondrial dysfunction. Correction of concomitant metabolic disorders has allowed to improve the quality of life of the child.Key words: Undine syndrome, synthropy, methylation, mitochondrial dysfunction  КЛІНІЧНИЙ СПОСІБ УСПІШНОЇ РЕАБІЛІТАЦІЇ ДИТИНИ З СИНДРОМОМ УНДІНИ (ВРОДЖЕНИЙ ЦЕНТРАЛЬНИЙ ГІПОВЕНТИЛЯЦІЙНИЙ СИНДРОМ, СИНДРОМ УНДІНИ, ОМІМ 209880)Гречаніна Ю., Бугаєва О., Білецька С.У статті описаний випадок поєднання орфанного моногенного захворювання (синдром Ундини) з порушенням циклу метилювання (епігенетичного статусу) і мітохондріальної дисфункції. Корекція супутніх обмінних порушень дозволила поліпшити якість життя дитини.Ключові слова: синдром Ундини, сінтропія, метилювання, мітохондріальна дисфункція КЛИНИЧЕСКИЙ СПОСОБ УСПЕШНОЙ РЕАБИЛИТАЦИИ РЕБЕНКА С СИНДРОМОМ УндинЫ (ВРОЖДЕННЫЙ ЦЕНТРАЛЬНЫЙ ГИПОВЕНТИЛЯЦИОННЫЙ СИНДРОМ, СИНДРОМ УНДИНЫ, ОМИМ 209880)Гречанина Ю., Бугаева О., Билецкая С.        В статье описан случай сочетания орфанного моногенного заболевания (синдром Ундины) с нарушением цикла метилирования (эпигенетического статуса) и митохондриальной дисфункции. Коррекция сопутствующих обменных нарушений позволила улучшить качество жизни ребёнка.Ключевые слова: синдром Ундины, синтропия, метилирование, митохондриальная дисфункция

scholarly journals Early Diagnosis and Treatment of Vesicouterine Fistula Using Low-Tech Methods in Low Resource Setting of Northern Ghana. A Case Report

2021 ◽  
Vol 5 (2) ◽  
Keyword(s):  
Quality Of Life ◽  
Case Report ◽  
Early Diagnosis ◽  
Diagnosis And Treatment ◽  
Northern Ghana ◽  
Vesicouterine Fistula ◽  
Obstetric Practice ◽  
Resource Setting ◽  
Low Resource Setting

Vesicouterine fistula is a rare but increasing phenomenon in obstetric practice. Early diagnosis and treatment will go a long way to reduce the associated morbidity as well as improve the quality of life of its victims. Our case exemplifies how the use of simple techniques can diagnose and bring great relief to such patients.

scholarly journals Diaphragmatic Pacing as an Alternative to Mechanical Ventilation: Early Experience from a Developing Country

2019 ◽  
Vol 1 (1) ◽  
pp. 18-25
Author(s):  
Rodrigo A. S. Sardenberg ◽  
Riad N Younes
Keyword(s):  
Quality Of Life ◽  
Mechanical Ventilation ◽  
Respiratory Infections ◽  
Bilateral Approach ◽  
Central Hypoventilation ◽  
Phrenic Nerves ◽  
The Mean ◽  
Hypoventilation Syndrome ◽  
The Impact

Background The aim of this study is to evaluate the outcomes of patients submitted to diaphragmatic pacing, and the impact on quality of life of patients who chronically depend on mechanical ventilation, as well as the effectiveness of phrenic stimulation to eliminate the need for mechanical ventilation. Methods From 2010- 2014, 10 patients completely dependent on mechanical ventilation were operated upon, with the implantation of phrenic pacing device. The diagnoses were quadriplegia and congenital central hypoventilation syndrome (CCHS). All patients underwent bilateral approach to the phrenic nerves, by video-assisted thoracic surgery or mini-thoracotomy. Results All patientsstarted pacing 30-40 days post-operatively. The mean age of patients was 12.1 years (2-27 years range) with a median of ten years. Six patients (54.5%) were as old as ten years, and three (27.2%) were older than 20 years. Younger patients had CCHS and older ones were quadriplegic. All patients with CCHS (n = 4) were nine years old or younger while only two quadriplegic patients were in this age group. Conclusions Diaphragmatic pacing can provide improvement in the quality of life of patients who depend on mechanical ventilation, allowing freedom to conduct daily activities, lower respiratory infections, and tracheostomy decannulation.

scholarly journals Recognition of Immune Response for the Early Diagnosis and Treatment of Osteoarthritis

2015 ◽  
Vol 2015 ◽  
pp. 1-13 ◽  
Author(s):  
Adrese M. Kandahari ◽  
Xinlin Yang ◽  
Abhijit S. Dighe ◽  
Dongfeng Pan ◽  
Quanjun Cui
Keyword(s):  
Quality Of Life ◽  
Immune Response ◽  
Early Diagnosis ◽  
Imaging Techniques ◽  
Disease Process ◽  
Inflammatory Cells ◽  
The United States ◽  
Diagnosis And Treatment ◽  
Joint Disease

Osteoarthritis is a common and debilitating joint disease that affects up to 30 million Americans, leading to significant disability, reduction in quality of life, and costing the United States tens of billions of dollars annually. Classically, osteoarthritis has been characterized as a degenerative, wear-and-tear disease, but recent research has identified it as an immunopathological disease on a spectrum between healthy condition and rheumatoid arthritis. A systematic literature review demonstrates that the disease pathogenesis is driven by an early innate immune response which progressively catalyzes degenerative changes that ultimately lead to an altered joint microenvironment. It is feasible to detect this infiltration of cells in the early, and presumably asymptomatic, phase of the disease through noninvasive imaging techniques. This screening can serve to aid clinicians in potentially identifying high-risk patients, hopefully leading to early effective management, vast improvements in quality of life, and significant reductions in disability, morbidity, and cost related to osteoarthritis. Although the diagnosis and treatment of osteoarthritis routinely utilize both invasive and non-invasive strategies, imaging techniques specific to inflammatory cells are not commonly employed for these purposes. This review discusses this paradigm and aims to shift the focus of future osteoarthritis-related research towards early diagnosis of the disease process.

scholarly journals Screening for comorbidities in COPD

Breathe ◽  
2020 ◽  
Vol 16 (1) ◽  
pp. 190315
Author(s):  
Delphine Natali ◽  
Georges Cloatre ◽  
Philippe Hovette ◽  
Belinda Cochrane
Keyword(s):  
Quality Of Life ◽  
Early Diagnosis ◽  
Respiratory System ◽  
Current Knowledge ◽  
Outpatient Setting ◽  
The State ◽  
Diagnosis And Treatment ◽  
Screening Protocol ◽  
The Impact

Due to growing recognition of comorbidities, COPD is no longer considered a disease affecting only the respiratory system. Its management now entails the early diagnosis and treatment of comorbidities. However, although many studies have examined the impact of comorbidities on the evolution of COPD and patients’ quality of life, very few have explored the means to systematically identify and manage them. The aims of this article are to summarise the state of current knowledge about comorbidities associated with COPD and to propose a possible screening protocol in the outpatient setting, emphasising the areas needing further research.

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