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

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 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.

Clinical case of a comorbid patient with arterial hypertension

2020 ◽  
pp. 31-39
Author(s):  
Ella Polozova ◽  
Vsevolod Skvortsov ◽  
Olga Radaykina ◽  
Mariya Narvatkina ◽  
Anastasiya Seskina ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Risk Factors ◽  
Arterial Hypertension ◽  
Clinical Picture ◽  
Clinical Case ◽  
Diagnosis And Treatment ◽  
The Moment

The widespread prevalence of comorbid pathology determines the relevance of this problem. Comorbid pathology due to the interaction of diseases, drug pathomorphism, age characteristics of the patient, significantly changes clinical picture and course of the main nosology, affects severity of complications and their nature, significantly affects quality of life and prognosis of patients. Diagnosis and treatment of many diseases is complicated in the conditions of comorbidity. The article presents a clinical case of a comorbid patient with arterial hypertension from the moment of exposure to risk factors and ending with the formation of many concomitant diseases, as an example of trans-nosological comorbidity.

scholarly journals Genetic mutation in Hirschsprungs/congenital central hypoventilation syndrome

2021 ◽  
Vol 69 ◽  
pp. 101861
Author(s):  
Christina Schreiner ◽  
Elisabeth Ralser ◽  
Christine Fauth ◽  
Ursula Kiechl-Kohlendorfer ◽  
Elke Griesmaier
Keyword(s):  
Genetic Mutation ◽  
Congenital Central Hypoventilation Syndrome ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome

Assessment of the quality of life in the treatment approaches of patients with the comorbid course of arterial hypertension and metabolic disorders aimed at reducing cardiovascular risk

2021 ◽  
Vol 28 (Supplement_1) ◽  
Author(s):  
V Zlatkina ◽  
V Shkapo ◽  
A Nesen ◽  
T Starchenko
Keyword(s):  
Quality Of Life ◽  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Arterial Hypertension ◽  
Metabolic Disorders ◽  
Clinical Signs ◽  
Blood Analysis ◽  
Sf 36 ◽  
Artery Disease

Abstract Funding Acknowledgements Type of funding sources: None. Introduction. Cardiovascular diseases (CVD) remain the leading cause of premature death worldwide. According to epidemiological studies CVD prevention is highly effective. A 50% reduction in mortality from coronary artery disease (CAD) is associated with exposure to risk factors and only 40% with improved treatment. Purpose.  To assess the quality of life (QOL) in patients with arterial hypertension (AH) and metabolic disorders, to establish its impact on therapy effectiveness. We examined 280 patients with AH and comorbidity - 171 women and 109 men aged 45-75 years. Along with AH, all patients had comorbidities: 72.6 % suffered from coronary artery disease (CAD), 10.5% after myocardial infarction (MI), 35 % had clinical signs of heart failure (HF), 22, 1% - type 2 diabetes mellitus (t2DM), 27.4% - chronic kidney disease (CKD). Methods. Anthropometry, blood pressure (BP) measurement, immunoassay (C-reactive protein), biochemical blood analysis (lipid, carbohydrate metabolism parameters, QOL determination (questionnaire Sf-36). Results. In patients with comorbidity of pathologies (presence of AH, t2DM, CKD, CAD, obesity), there was a decrease in assessments in almost all indicators of QOL, and especially significant limitations in the performance of daily activities due to both physical and mental state. Conclusion. The degree of AH in patients with t2DM decreased QOL of physical activity, role-physical functioning, pain and general health, reflecting physical health, as well as mental health, including vitality, social activity, role emotional functioning. T2DM in patients with AH significantly worsens QOL of this category of patients as in physical component summary and mental component summary. The indicators of QOL are significantly affected by the duration of t2DM, as well as the degree of compensation. Achievement of the target BP levels in patients with AH with t2DM shows an improvement in a number of QOL parameters and makes it possible to recommend the Sf-36 questionnaire as a criterion for the effectiveness of the therapy.

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