Study of GCN repeats of PHOX2B gene among individuals from southwest China and diagnosis of two patients with Congenital central hypoventilation syndrome / 中华医学遗传学杂志

OBJECTIVE@#To study the trinucleotide repeats of GCN (GCA, GCT, GCC, GCG) encoding Alanine in exon 3 of the PHOX2B gene among healthy individuals from southwest China and two patients with Congenital central hypoventilation syndrome (CCHS).@*METHODS@#The number and sequence of the GCN repeats of the PHOX2B gene were analyzed by capillary electrophoresis, Sanger sequencing and cloning sequencing of 518 healthy individuals and two newborns with CCHS, respectively.@*RESULTS@#Among the 1036 alleles of the 518 healthy individuals, five alleles were identified, including (GCN)7, (GCN)13, (GCN)14, (GCN)15 and (GCN)20. The frequency of the (GCN)20 allele was the highest (94.79%). And five genotypes were identified, which included (GCN)7/(GCN)20, (GCN)13/(GCN)20, (GCN)14/(GCN)20, (GCN)15/(GCN)20, (GCN)20/(GCN)20. The homozygous genotypes were all (GCN)20/(GCN)20, and the carrier rate was 89.58%. Four GCN sequences of the (GCN)20 homozygous genotypes were identified among the 464 healthy individuals. The GCN repeat numbers in the exon 3 of the PHOX2B gene showed no significant difference between the expected and observed values, and had fulfilled the,Hardy-Weinberg equilibrium. The genotypes of the two CCHS patients were (GCN)20/(GCN)25 and (GCN)20/(GCN)30, respectively.@*CONCLUSION@#It is important to determine the GCN repeats and genotypic data of the exon 3 of the PHOX2B gene among the healthy individuals. The number of GCN repeats in 518 healthy individuals was all below 20. The selection of appropriate methods can accurately detect the polyalanine repeat mutations (PARMs) of the PHOX2B gene, which is conducive to the early diagnosis, intervention and treatment of CCHS.

Two children with late-onset congenital central hypoventilation syndrome / 临床耳鼻咽喉头颈外科杂志

Two children with late-onset congenital central hypoventilation syndrome were reported, one of whom was male and had no abnormal manifestations after birth, respiratory failure occurs at the age of 1 year and 6 months. After being hospitalized, he was treated with oxygen inhalation and non-invasive ventilation, but carbon dioxide retention could not be corrected. After one month of tracheal intubation, he was failure to wean from ventilator, so tracheostomy was performed. He needs a ventilator to help breath while sleeping, and can breath autonomously during the day without ventilator. The other case was a female, with no abnormalities after birth. At the age of 11 months, she developed respiratory failure. During sleep, the child needs non-invasive assisted ventilation through a nasal mask, and during the day, she breathed autonomously.Two patients were followed up forever 2 years and their growth and development were normal.

Respiración de Cheyne-Stokes en una adolescente con insuficiencia cardíaca secundaria a miocardiopatía dilatada que requirió trasplante cardíaco / Cheyne-Stokes respiration in an adolescent with heart failure secondary to dilated cardiomyopathy requiring heart transplantation

La respiración de Cheyne-Stokes es una variante cíclica o tipo de apnea central del sueño poco frecuente en la población pediátrica. Se describe a una paciente de 12 años con insuficiencia cardíaca grave relacionada con miocardiopatía dilatada que demostró trastornos del sueño con características de respiración de Cheyne-Stokes, que se resolvieron completamente después del trasplante cardíaco.

Cheyne-Stokes respiration is a cyclic variant or type of central sleep apnea rare in pediatric population. We describe a 12-year-old female patient with severe heart failure related to dilated cardiomyopathy who demonstrated sleep disorders with Cheyne-Stokes breathing features, which completely resolved following cardiac transplantation.

Treatment-emergent central sleep apnea: a unique sleep-disordered breathing / 中华医学杂志(英文版)

Treatment-emergent central sleep apnea (TECSA) is a specific form of sleep-disordered breathing, characterized by the emergence or persistence of central apneas during treatment for obstructive sleep apnea. The purpose of this review was to summarize the definition, epidemiology, potential mechanisms, clinical characteristics, and treatment of TECSA. We searched for relevant articles up to January 31, 2020, in the PubMed database. The prevalence of TECSA varied widely in different studies. The potential mechanisms leading to TECSA included ventilatory control instability, low arousal threshold, activation of lung stretch receptors, and prolonged circulation time. TECSA may be a self-limited disorder in some patients and could be resolved spontaneously over time with ongoing treatment of continuous positive airway pressure (CPAP). However, central apneas persist even with the regular CPAP therapy in some patients, and new treatment approaches such as adaptive servo-ventilation may be necessary. We concluded that several questions regarding TECSA remain, despite the findings of many studies, and it is necessary to carry out large surveys with basic scientific design and clinical trials for TECSA to clarify these irregularities. Further, it will be vital to evaluate the baseline demographic and polysomnographic data of TECSA patients more carefully and comprehensively.

Análisis fenoménico de la técnica neuromuscular funcional como tratamiento para el SAOS / Phenomenical Analysis of the Functional Neuromuscular Technique as a Treatment for OSA

Introducción: el objetivo de este estudio es develar si la técnica Neuromuscular Funcional (NMF) puede ser considerada como opción de tratamiento en el Síndrome de Apnea Obstructiva de Sueño (SAOS) y si se complementa con la Terapia Miofun-cional Orofacial o hace parte de ella.Métodos: la fenomenología trascendental de Husserl es el enfoque metodoló-gico que se adoptó para este estudio, siguiendo la ruta para su desarrollo: epojé, reducción trascendental fenomenológica y síntesis. El contenido real se obtuvo mediante dos entrevistas semiestructuradas, aplicadas a un informante clave que contó con los criterios de inclusión presupuestados. Resultados: en la primera etapa se identificaron 10 noesis y 266 noemas, que fue-ron relacionados entre sí; en la fase de reducción trascendental las noesis se redujeron a 5 y los noemas a 14. Análisis y discusión: el Método Chiavaro como fenómeno se decanta en las di-mensiones: (a) Enfoque Sistémico, (b) Técnica Neuromuscular Funcional y (c) Téc-nica Respiratoria. La prioridad del fenómeno NMF es la explicación de la alteración dentro del enfoque sistémico a partir de la lógica Función-Estructura-Función, de esta manera el SAOS se considera una manifestación de esas relaciones y como tal se le cataloga como adaptación o como función en disfunción.Conclusiones: la Técnica NMF hace parte de la neurorrehabilitación mientras que la TMO para intervenir el SAOS se inscribe en la fisiología del ejercicio

Introduction: the objective of this study is to reveal if the Functional Neuromuscu-lar technique (In Spanish: NMF) can be considered as a treatment option for OSA. Additionally, this paper seeks to assess if the aforementioned is derived from, a por-tion of or if it is complemented by Orofacial Myofunctional Therapy (OMT). Methods: Husserl's transcendental phenomenology is the methodological approach that was adopted for this study, following the path to its development: epoché, phenomenologi-cal transcendental reduction and synthesis. The actual content was obtained through two semi-structured interviews applied to a key informant who met the preconceived inclusion criteria.Results: in the first stage 10 noesis and 266 noems , which were related to each other, were identified; in the phase of transcendental reduction, the noesis were reduced to 5 and the noems to 14. Analysis and discussion: the Chiavaro Method as a phenomenon is composed of three dimensions: (a) Systemic Approach, (b) Functional Neuromuscular Technique and (c) Respi-ratory Technique. The priority of the NMF phenomenon is the explanation of the alteration within the systemic approach based on the Function-Structure-Function logic, ergo the OSA is considered a manifestation of these relationships and as such it is classified as adaptation or as a function in dysfunction.Conclusions: the NMF technique is a part of neurorehabilitation whilst OMT for the in-tervention of OSA is subscribed to the physiology of exercise.

Trastornos respiratorios relacionados al sueño en niños que acuden a la consulta ortodóncica en el Instituto de Odontología Avanzada, Paraguay 2018 / Trastornos respiratorios relacionados al sueño en niños que acuden a la consulta ortodóncica en el Instituto de Odontología Avanzada, Paraguay 2018

Introducción: Los trastornos del sueño pueden afectar significativamente la calidad de vida de los niños. Objetivo: Determinar la frecuencia de trastornos respiratorios del sueño en niños que acuden a la consulta ortodóncica. Métodos: Para realizar este estudio de corte trasversal se aplicó la sección A del Pediatric Sleep Questionnaire de forma consecutiva a padres de niños que acudieron a la consulta ortodóncica en el Instituto de Odontología Avanzada en el año 2018. Para las mediciones de variables cualitativas y cuantitativas, se utilizaron medidas de frecuencias absolutas y relativas con el programa EPI Info™ 7 (CDC). Resultados: Se incluyeron 52 pacientes (28 niñas, 24 niños) con edad media 13 años (DP: 2,23). En los resultados se observó que 12 niños (23%) presentaban algún tipo de patología respiratoria siendo la alergia (58,3%) la más reportada; y la medicación mayormente usada (antialérgicos, broncodilatadores, etc.) en presentación de aerosol (40%) y sólo 4 casos (7,6%) fueron sometido a alguna cirugía de las vías respiratorias, principalmente en la adenoides. El ronquido se registró en 30 individuos (57,69 %) de los cuales 18 (58%) pertenecen al sexo femenino y 13 (42%) al sexo masculino, sin tener alguna asociación por edad o sexo. Las horas de sueño en la semana fueron en promedio 9h. (DS= 1,78). Conclusión: La alta frecuencia de ronquido entre los trastornos respiratorios detectados en pacientes que buscaron tratamiento ortodóncico en el IOA, señala que la aplicación de un cuestionario fue una herramienta adecuada para la detección de TRS y permite que los niños con riesgo puedan ser identificados y remitidos a un especialista. Palabras clave: Trastornos respiratorios. Ronquido. Niños. Ortodoncia. Paraguay

Introduction: Sleep disorders can significantly affect the quality of life of children. Objective: To determine the frequency of respiratory sleep disorders in children who come to the orthodontic office. Methods: To perform this cross-sectional study, section A of the Pediatric Sleep Questionnaire was applied consecutively to parents of children who attended the orthodontic clinic at the Institute of Advanced Dentistry in 2018. For qualitative and quantitative variables measurements , absolute and relative frequency measurements were used with the EPI Info ™ 7 (CDC) program. Results: We included 52 patients (28 girls, 24 boys) with an average age of 13 years (PD: 2.23). In the results it was observed that 12 children (23%) presented some type of respiratory disease being the allergy (58.3%) the most reported; and the most commonly used medication (antiallergics, bronchodilators, etc.) in aerosol presentation (40%) and only 4 cases (7.6%) were subjected to some surgery of the respiratory tract, mainly in the adenoids. The snoring was recorded in 30 individuals (57.69%) of whom 18 (58%) belong to the female sex and 13 (42%) to the male sex, without having any association by age or sex. The hours of sleep in the week were on average 9h. (DS = 1.78). Conclusion: The high frequency of snoring among the respiratory disorders detected in patients who sought orthodontic treatment in the IOA, indicates that the application of a questionnaire was an adequate tool for the detection of SDB and allows children at risk to be identified and referred to a specialist. Key words: Respiration Disorders. Snoring. Orthodontics. Child. Paraguay

Anesthetic management in corticobasal degeneration with central sleep apnea: A case report

Corticobasal degeneration (CBD) is a rare neurodegenerative disease characterized by dystonia, cognitive deficits, and an asymmetric akinetic-rigid syndrome. Little information is available regarding anesthetic management for CBD patients. Our patient was a 55-year-old man with CBD complicated by central sleep apnea (CSA). Due to the risk of perioperative breathing instability associated with anesthetic use, a laryngeal mask airway was used during anesthesia with propofol. Spontaneous respiration was stable under general anesthesia. However, respiratory depression occurred following surgery, necessitating insertion of a nasopharyngeal airway. Since no respiratory depression had occurred during maintenance of the airway using the laryngeal mask, we suspected an upper airway obstruction caused by displacement of the tongue due to residual propofol. Residual anesthetics may cause postoperative respiratory depression in patients with CBD. Therefore, continuous postoperative monitoring of SpO₂ and preparations to support postoperative ventilation are necessary.

Central Sleep Apnea without Cheyne-Stokes Breathing Following an Acute Cerebral Infarction

Central sleep apnea (CSA) is attributed to medical or neurological conditions including stroke. The association of lesion location and CSA in patients with ischemic stroke has not been well elucidated. A 69-year-old man with a history of hypertension and diabetes mellitus was admitted due to stroke. The brain magnetic resonance imaging showed an acute ischemic stroke in the right ventral thalamus and adjacent hypothalamus. During hospitalization, polysomnography (PSG) was performed because repetitive cessation of respiration during sleep was observed by chance. PSG showed severe CSA; the apnea-hypopnea index (AHI) was 73.5 with a minimum oxygen saturation of 89% and central apnea index (CAI) was 63.0. Two years later, follow-up PSG showed that AHI was 7.2 with a minimum oxygen saturation of 91% and CAI was 1.0. We report the patient with CSA after ischemic stroke with right thalamus and adjacent hypothalamus, which resolved spontaneously with time.

Sleep characteristics in an adult with sleep complaints in three cities at different altitudes / Características do sono em um adulto com queixas de sono em três cidades a diferentes altitudes

ABSTRACT Sleep studies conducted at an altitude that is different from the home altitude can yield misleading results regarding the severity of obstructive sleep apnea (OSA). The objective of the present study was to determine the sleep characteristics of a patient undergoing polysomnography (PSG) in three Colombian cities at different altitudes (Bogotá, at 2,640 m above sea level [ASL]; Bucaramanga, at 959 m ASL; and Santa Marta, at 15 m ASL). The patient was an obese man with diabetes and suspected OSA. All PSG recordings were scored and interpreted in accordance with American Academy of Sleep Medicine criteria. In Bogotá, PSG revealed moderate OSA (an apnea-hypopnea index [AHI] of 21 events/h); in Bucaramanga, PSG revealed increased upper airway resistance (an AHI of 2 events/h); in Santa Marta, PSG revealed mild OSA (an AHI of 7 events/h). The reduction in the AHI was predominantly a reduction in hypopneas and obstructive apneas. The respiratory events were shorter in duration in the city at an intermediate altitude. Given that the AHI varied widely across cities, we can assume that the patient is normal or has moderate OSA depending on the city where he is. Central apneas were found to have no influence on the AHI.

RESUMO Estudos do sono realizados a uma altitude diferente da altitude do local onde se vive podem produzir resultados enganosos quanto à gravidade da apneia obstrutiva do sono (AOS). O objetivo do presente estudo foi determinar as características do sono de um paciente submetido a polissonografia (PSG) em três cidades colombianas a diferentes altitudes [Bogotá, a 2.640 m acima do nível do mar (ANM); Bucaramanga, a 959 m ANM e Santa Marta, a 15 m ANM]. O paciente era um homem obeso com diabetes e suspeita de AOS. Os dados obtidos receberam pontuação e foram interpretados de acordo com os critérios da American Academy of Sleep Medicine. Em Bogotá, a PSG revelou AOS moderada [índice de apneias e hipopneias (IAH) = 21 eventos/h]; em Bucaramanga, a PSG revelou aumento da resistência das vias aéreas superiores (IAH = 2 eventos/h); em Santa Marta, a PSG revelou AOS leve (IAH = 7 eventos/h). A redução do IAH foi predominantemente uma redução de hipopneias e apneias obstrutivas. Os eventos respiratórios tiveram menor duração na cidade a uma altitude intermediária. Como houve grande diferença entre as cidades quanto ao IAH, pode-se concluir que o paciente é normal ou apresenta AOS moderada dependendo da cidade onde está. As apneias centrais não influenciaram o IAH.

Case of a 19-Year-Old Male with Nocturnal Groaning (Catathrenia) / 수면정신생리

Catathrenia is a rare sleep disease characterized by monotonous groaning sounds that appear to be related with prolonged expiration, commonly experienced during rapid eye movement (REM) sleep. Catathrenia is also known as nocturnal groaning or sleep-related groaning and is currently categorized as a sleep-related breathing disorder. We present a rare case of a 19-year-old male with nocturnal groaning during non-REM sleep. We suggest that if catathrenia is suspected, polysomnography should be utilized to differentiate it from various sleep disorders such as snoring, central sleep apnea, sleep talking, parasomnia, and sleep-related movement disorders.

A Case of Continuous Positive Airway Pressure Therapy in a Patient with Central Sleep Apnea and Heart Failure / 수면정신생리

Central sleep apnea (CSA) is a highly prevalent comorbidity in patients with heart failure and may present in 25 to 40 percent of heart failure patients. Continuous positive airway pressure (CPAP) is the primary therapeutic option and effective in treatment of obstructive sleep apnea (OSA). In heart failure patients with CSA, several trials of CPAP showed a number of positive effects in heart failure treatment. A 58-year-old male visited the hospital because of dyspnea and he was diagnosed as heart failure with ischemic heart disease. He underwent coronary angiography and received percutaneous coronary intervention due to stenosis at the middle of left anterior descending coronary artery. However, dyspnea was not completely improved after treatment with percutaneous coronary intervention. The patient also experienced snoring and sleep apnea which worsened with symptom of dyspnea in the recent year. We suspected CSA and the patient underwent polysomnography to confirm whether sleep apnea was present. During the polysomnography, CSA with Cheyne-Stokes respiration (CSR) was observed and apnea-hypopnea index was 45.9/hr. The patient was treated with CPAP. After CPAP treatment, hypoxemia and CSA were resolved and dyspnea was improved with reducing NYHA class. We report a case successfully treated with clinical improvement by presuming CSA in a patient with heart failure.

The First Korean case of combined oxidative phosphorylation deficiency-17 diagnosed by clinical and molecular investigation / 소아과

Combined oxidative phosphorylation deficiency-17 (COXPD-17) is very rare and is caused by homozygous or compound heterozygous mutations in the ELAC2 gene on chromosome 17p12. The ELAC2 gene functions as a mitochondrial tRNA processing gene, and only 4 different pathogenic mutations have been reported in ELAC2-associated mitochondrial dysfunction involving oxidative phosphorylation. Affected patients show various clinical symptoms and prognosis, depending on the genotype. We report a novel mutation in the ELAC2 gene (c.95C>G [p.Pro32Arg], het), in an infant with COXPD-17 who presented with encephalopathy including central apnea and intractable epilepsy, and growth and developmental retardation. During hospitalization, consistently elevated serum lactic acid levels were noted, indicative of mitochondrial dysfunction. The patient suddenly died of shock of unknown cause at 5 months of age. This is the first case report of COXPD-17 in Korea and was diagnosed based on clinical characteristics and genetic analysis.

The Effect of Sleep Disordered Breathing on Olfactory Functions: Analysis by Apnea-Hypopnea Index

OBJECTIVES: One hypothesis of obstructive sleep apnea syndrome (OSAS) is that long-standing snoring vibrations and hypoxia of the nerves cause a local neuropathy in the upper airway during sleep. The aim of this study was to investigate olfactory function in subjects comprising snorers and untreated subjects with OSAS, and to correlate data with polysomnographic parameters. METHODS: Sixty-nine patients were evaluated for snoring from January 2010 to December 2013. The mild group (apneahypopnea index [AHI]<15) consisted of 19 subjects, and the moderate-severe group (AHI≥15) consisted of 50 subjects. Exclusion criteria were conductive olfactory dysfunction, previous tonsil or soft palatal surgery, central sleep apnea, and medications that are known to affect peripheral nerves. Nocturnal polysomnography and olfactory function test such as Korean version of Sniffin’s stick test I, II (KVSS I, II) were performed. RESULTS: There was a significant difference in body mass index, average oxygen saturation (SaO2), lowest SaO2, average snoring duration, and KVSS I, II between the two groups. AHI was related to odor threshold score, and average SaO2 was related to odor discrimination score. But, odor identification score showed no relation with AHI and average SaO2 except for age. Average SaO2 and AHI were closely related to the function of smell. CONCLUSION: Hypoxia and low nasal airflow caused by OSAS may have an effect on the olfactory function. On comparison between the two groups, patients with a high AHI, especially those with OSAS, had an olfactory dysfunction. Also, low average oxygen is the main risk factor in determining the olfactory function. In people with OSAS, the possibility of olfactory dysfunction should be considered and an olfactory function test should be performed.

Congenital central hypoventilation syndrome associated with Hirschsprung's Disease: case report and literature review / Síndrome de hipoventilação central congênita associada à doença de Hirschsprung: relato de caso e revisão de literatura

Abstract Objective: To report the case of a newborn with recurrent episodes of apnea, diagnosed with Congenital Central hypoventilation syndrome (CCHS) associated with Hirschsprung's disease (HD), configuring Haddad syndrome. Case description: Third child born at full-term to a non-consanguineous couple through normal delivery without complications, with appropriate weight and length for gestational age. Soon after birth he started to show bradypnea, bradycardia and cyanosis, being submitted to tracheal intubation and started empiric antibiotic therapy for suspected early neonatal sepsis. During hospitalization in the NICU, he showed difficulty to undergo extubation due to episodes of desaturation during sleep and wakefulness. He had recurrent episodes of hypoglycemia, hyperglycemia, metabolic acidosis, abdominal distension, leukocytosis, increase in C-reactive protein levels, with negative blood cultures and suspected inborn error of metabolism. At 2 months of age he was diagnosed with long-segment Hirschsprung's disease and was submitted to segment resection and colostomy through Hartmann's procedure. A genetic research was performed by polymerase chain reaction for CCHS screening, which showed the mutated allele of PHOX2B gene, confirming the diagnosis. Comments: This is a rare genetic, autosomal dominant disease, caused by mutation in PHOX2B gene, located in chromosome band 4p12, which results in autonomic nervous system dysfunction. CCHS can also occur with Hirschsprung's disease and tumors derived from the neural crest. There is a correlation between phenotype and genotype, as well as high intrafamilial phenotypic variability. In the neonatal period it can simulate cases of sepsis and inborn errors of metabolism.

Resumo Objetivo: Relatar caso de neonato com episódios de apneias recorrentes, diagnosticado com síndrome de hipoventilação central congênita (SHCC) associada à doença de Hirschsprung (DH), o que configurou síndrome de Haddad. Descrição do caso: Terceiro filho de casal não consanguíneo, nascido a termo, parto normal sem intercorrências, peso e comprimento adequados para idade gestacional. Logo após o nascimento apresentou bradipneia, bradicardia e cianose, foi submetido à intubação orotraqueal e iniciada antibioticoterapia empírica devido à suspeita de sepse neonatal precoce. Durante internação em UTI neonatal evoluiu com dificuldade de extubação devido a episódios de dessaturação durante sono e vigília. Apresentou quadros recorrentes de hipoglicemia, hiperglicemia, acidose metabólica, distensão abdominal, leucocitose, aumento de proteína C reativa, com hemoculturas negativas e suspeita de erro inato do metabolismo. Aos dois meses foi diagnosticada doença de Hirschsprung de segmento longo, foi submetido à ressecção do segmento e colostomia à Hartmann. Feita pesquisa genética por reação em cadeia da polimerase para pesquisa de SHCC, que evidenciou alelo mutado do gene PHOX2B e confirmou o diagnóstico. Comentários: Trata-se de doença genética rara, de herança autossômica dominante, causada por mutação no gene PHOX2B, localizado na banda cromossômica 4p12, que resulta em disfunção do sistema nervoso autônomo. A SHCC também pode cursar com doença de Hirschsprung e tumores derivados da crista neural. Há correlação entre fenótipo e genótipo, além de grande variabilidade fenotípica intrafamiliar. No período neonatal pode simular quadros de sepse e erros inatos do metabolismo.

Circulatory sleep apnea: Preliminary report of clinical observation on sleep apnea in patients with chronic heart failure / 中国应用生理学杂志

<p><b>OBJECTIVE</b>The aim of this study is to investigate the occurrence and mechanism of Cheyne-Stokes breathing pattern in patients with heart failure.</p><p><b>METHODS</b>Fifty-six patients who performed polusomnography sleep testing at National Center of Cardiovascular Diseases Fuwai Hospital from March to May in 2015. We divided them into chronic heart failure (CHF) group and non-CHF group.</p><p><b>RESULTS</b>The occurrences of sleep apnea in two groups were high. In CHF group (n = 11) , there were 10 patients with apnea hypopnea index (AHI) > 5; and their AHI was 23.93 ±14.63. In non-CHF group (n = 45), there were 33 patients whose AHI > 5; and their AHI was 16.20 ± 18.76. The ratio of center sleep apnea to all gross sleep apnea ratio in CHF group was higher than that in non-CHF group (80.21% ± 30.55% vs 27.16% ± 35.71%, P < 0.01 ).</p><p><b>CONCLUSION</b>Based upon the new theory of holistic integrative physiology and medicine, we explain the mechanism of circulatory dysfunction induce the oscillation breathing in patients with CHF. The sleep apnea and C-S respiration in CHF should be called circulatory sleep apnea, rather than central sleep apnea.</p>

Congenital central hypoventilation syndrome: analysis of PHOX2B gene mutation in a case / 中华医学遗传学杂志

OBJECTIVE To report on the phenotype of an infant with central hypoventilation syndrome (CCHS) and result of PHOX2B gene mutation analysis for the purpose of genetic counseling and prenatal diagnosis. METHODS Clinical data of an infant with CCHS was collected and analyzed. Potential mutation of PHOX2B gene was analyzed by amplified fragment length polymorphism (amp-FLP) and DNA sequencing. RESULTS The patient had typical clinical features of CCHS including frequent hypoventilation during sleeping, hypoxemia and hypercapnia which could be corrected by continuous ventilatory support. She also had repeated bruising and was difficult-to-wean, but without any cardiac, pulmonary, neuromuscular or brainstem lesions. DNA sequencing and amp-FLP of the PHOX2B gene showed that the patient has carried a polyalanine expansion repeat mutation (PARM) in exon 3. A 27 bp duplication was confirmed in the repeat sequence of 20 alanines by cloned and sequenced. This has led to an expansion of the repeat tract to 29 alanines. The genotype was therefore 20/29. CONCLUSION A patient with CCHS has been described. Mutation screening of PHOX2B gene can be used as an important support for diagnosis and genetic counseling for such patients.

Diagnosis and treatment of sleep disordered breathing: an update / 临床耳鼻咽喉头颈外科杂志

The sleep breathing disorders (SDB) include obstructive sleep apnea (OSA), central sleep apnea disorders, sleep related hypoventilation disorders, and sleep related hypoxemia disorder in international classification of sleep diseases 3rd edition (ICSD-3). Latest diagnosis criteria are introduced. Treatments, which target to Individual contributors, should be applied. Thus identification of the phenotype in patients with OSA is important. The methods of evaluation patients' arousal thresholds, loop gain as well as neuromyopathy in clinical setting are reported. Several new treatment strategies are developed and applied for OSA. Long term follow up and more data are needed for evaluation the outcomes of hypoglossal nerve stimulation, bariatric surgery as well as medicine as treatments for OSA.

Multiple System Atrophy Manifested by Bilateral Vocal Cord Palsy as an Initial Sign / 대한구급학회지

A 71-year-old male initially presented with vocal cord palsy and underwent tracheostomy. After thorough examination, urogenital dysfunction, orthostatic hypotension, and Parkinsonism were found, which led to the diagnosis of multiple system atrophy (MSA). After the tracheostomy, bi-level positive airway pressure ventilation was required during the night due to nocturnal hypoxemia. Night-time hypoxemia is related to central sleep apnea, which is one of the manifestations of MSA. This is the first case of MSA manifested by bilateral vocal cord palsy as an initial sign in Korea. This case supports the notion that MSA should be taken into consideration when vocal cord paralysis is observed.

Multiple System Atrophy Manifested by Bilateral Vocal Cord Palsy as an Initial Sign / 대한중환자의학회지

A 71-year-old male initially presented with vocal cord palsy and underwent tracheostomy. After thorough examination, urogenital dysfunction, orthostatic hypotension, and Parkinsonism were found, which led to the diagnosis of multiple system atrophy (MSA). After the tracheostomy, bi-level positive airway pressure ventilation was required during the night due to nocturnal hypoxemia. Night-time hypoxemia is related to central sleep apnea, which is one of the manifestations of MSA. This is the first case of MSA manifested by bilateral vocal cord palsy as an initial sign in Korea. This case supports the notion that MSA should be taken into consideration when vocal cord paralysis is observed.

Chiari malformation and central sleep apnea syndrome: efficacy of treatment with adaptive servo-ventilation / Malformação de Chiari e síndrome de apneia central do sono: eficácia do tratamento com servoventilação adaptativa

The Chiari malformation type I (CM-I) has been associated with sleep-disordered breathing, especially central sleep apnea syndrome. We report the case of a 44-year-old female with CM-I who was referred to our sleep laboratory for suspected sleep apnea. The patient had undergone decompressive surgery 3 years prior. An arterial blood gas analysis showed hypercapnia. Polysomnography showed a respiratory disturbance index of 108 events/h, and all were central apnea events. Treatment with adaptive servo-ventilation was initiated, and central apnea was resolved. This report demonstrates the efficacy of servo-ventilation in the treatment of central sleep apnea syndrome associated with alveolar hypoventilation in a CM-I patient with a history of decompressive surgery.

A malformação de Chiari tipo I (MC-I) tem sido associada a distúrbios respiratórios do sono, sobretudo à síndrome de apneia central do sono. Apresentamos o caso de uma paciente do sexo feminino de 44 anos de idade com MC-I que foi encaminhada à nossa unidade de sono por suspeita de apneia do sono. A paciente havia sido submetida a cirurgia descompressiva 3 anos antes. A gasometria arterial mostrou hipercapnia. A polissonografia revelou um índice de distúrbio respiratório de 108 eventos/h, sendo todos os eventos apneias centrais. Foi iniciado tratamento com servoventilação adaptativa e houve resolução da apneia central. Este relato demonstra a eficácia da servoventilação no tratamento da síndrome de apneia central do sono associada à hipoventilação alveolar em uma paciente com MC-I previamente submetida a cirurgia descompressiva.