Background: Children with achondroplasia often have breathing problems, especially during sleep. ... more Background: Children with achondroplasia often have breathing problems, especially during sleep. The most important treatments are adenotonsillectomy (for treating upper obstruction) and/or neurosurgery (for resolving cervicomedullar junction stenosis). Data sources: We reviewed the scientific literature on polysomnographic investigations which assessed the severity of respiratory disorders during sleep. Results: Recent findings have highlighted the importance of clinical investigations in patients with achondroplasia, differentiating between those that look for neurological patterns and those that look for respiratory problems during sleep. In particular, magnetic resonance imaging (MRI) and somatosensory evoked potentials are the main tools to evaluate necessary neurosurgery and over myelopathy, respectively. Conclusions: The use of polysomnography enables clinicians to identify children with upper airway obstruction and to quantify disease severity; it is not suitable for MRI and/or neurosurgery considerations.
Background: Children with achondroplasia often have breathing problems, especially during sleep. ... more Background: Children with achondroplasia often have breathing problems, especially during sleep. The most important treatments are adenotonsillectomy (for treating upper obstruction) and/or neurosurgery (for resolving cervicomedullar junction stenosis). Data sources: We reviewed the scientific literature on polysomnographic investigations which assessed the severity of respiratory disorders during sleep. Results: Recent findings have highlighted the importance of clinical investigations in patients with achondroplasia, differentiating between those that look for neurological patterns and those that look for respiratory problems during sleep. In particular, magnetic resonance imaging (MRI) and somatosensory evoked potentials are the main tools to evaluate necessary neurosurgery and over myelopathy, respectively. Conclusions: The use of polysomnography enables clinicians to identify children with upper airway obstruction and to quantify disease severity; it is not suitable for MRI and/or neurosurgery considerations.
The causes of nocturnal enuresis (NE) are likely multi-factorial. It has been related to several ... more The causes of nocturnal enuresis (NE) are likely multi-factorial. It has been related to several (urological-nephrological-hormonal) reasons but clear and univocal pathogenesis remains mostly undetermined. Sleep disordered breathing (SDB) is a syndrome of upper airway dysfunction that occurs during sleep and is characterized by snoring and/or increased respiratory effort secondary to increased upper airway resistance and pharyngeal collapsibility. Adenotonsillar hypertrophy is the main cause of SDB in children. To date, several studies have associated childhood NE with coexistent SDB. Adenotonsillectomy was successful for both SDB and NE in about half of patients. Unfortunately, practical consensus guidelines for the management of primary NE do not mention, or marginally concern, SDB in these children, particularly in those who have treatment resistance and comorbidities. The concerns regard the concomitant presence of two relatively frequent sleep disorders, raising the question whether they are really coincidental problems of childhood. Core tip: Several studies have pointed out the high frequency of sleep disordered breathing (SDB) in children with nocturnal enuresis (NE), particularly refractory (medication resistant) or secondary. Practical consensus guidelines for NE, corroborated by recent investigation of the topics, need to be revisited considering the high recurrence of SDB in childhood NE and a high success rate of intervention for it. Zaffanello M. Enuresis and sleep disordered breathing: An old and new link. World J Clin Urol 2016; 5(3): 90-92 Available from:
Purpose of the study: Frequency of habitual snoring is significantly higher in obese than in norm... more Purpose of the study: Frequency of habitual snoring is significantly higher in obese than in normal-weight subjects. Obesity and adeno-tonsillar size are risk factors of snoring. Other factors, such as fat distribution and upper airway collapsibility, could explain the relationship between obesity, snoring and obtructive sleep apneas. The aim of the study was to investigate clinical and instrumental significance of snoring in exogenous obese children referred to our department. Methodology: This preliminary study takes part of a larger prospective respiratory sleep study. In 36 consecutive obese children (18 males), body mass index (BMI), BMI Z score and neck circumference were calculated according to age and sex. Nasal patency, tonsil size, palate position scoring were also recorded. An overnight polygraphy was performed using a portable ambulatory device. Statistical analysis was done using SPSS® Statistics 19.0 software for Windows®. Main findings: Snoring, objectively measured by polygraphy, was associated with palate position and with oxygen desaturation index (ODI). The correlation between snoring and ODI completely disappeared when adjusting for palate position scoring. Key conclusions: Low palate position can be identified as an adjunctive, although not unique, factor that can contribute to making snoring and increased desaturation events possibly related to increased risk of upper airway collapsibility during sleep in obese children.
Introduction: Both sleep-disordered breathing (SDB) and high blood pressure (BP) occur more frequ... more Introduction: Both sleep-disordered breathing (SDB) and high blood pressure (BP) occur more frequently among obese children than among normal weight children, and this may be due to endothelial dysfunction and worsened arterial stiffness. The aim of this study was to evaluate the possible association between SDB and BP, and the possible role of endothelial function and local and systemic arterial stiffness in a sample of obese children asymptomatic for sleep disturbances. Materials and methods: Thirty-nine obese children were included in the study. Children underwent overnight limited channel polysomnography, and the vascular measurements included the following: office and 24-h ambulatory BP; brachial flow-mediated dilatation, carotid intima–media thickness and carotid distensibility measured using ultrasound; and systemic arterial stiffness index measured using digital volume pulse analysis. Results: Significant correlations between different BP measurements (both office and ambulatory BP monitoring and estimated by Z score) and SDB were found, including correlations involving the respiratory disturbance index, the apnea–hypopnea index (AHI), the number of desaturations per hour and the mean peripheral saturation (r ranging between 0.330 and 0.474). Carotid distensibility was correlated with the AHI (r ¼ À0.367; P ¼ 0.030) and with the mean oxygen saturation (r ¼ 0.401; P ¼ 0.017). In contrast, there was no relationship among flow-mediated dilatation, stiffness index, carotid intima–media thickness and all the tested respiratory markers. In the multivariate analysis, the supine Z SBP remained independently associated with the number of desaturations per hour and the AHI, even after correction for carotid distensibility and BMI. Conclusion: Our data suggest that in obese children asymptomatic for sleep respiratory problems, SDB might worsen BP, in part, through an increase in arterial stiffness.
Mitochondrial cytopathy is a multisystemic disease that requires different pharmacological and sp... more Mitochondrial cytopathy is a multisystemic disease that requires different pharmacological and specialist approaches; although most therapies are usually of scarce effectiveness. We describe a clinical management of a very young girl with Pearson's syndrome that developed the symptoms of Kearns-Sayre syndrome. Many of symptoms were temporarily improved by the replacement therapy with hydrocortisone introduced to treat the partial adrenal insufficiency. During her life, she showed an ample clinical spectrum of symptoms because of multiple organs involvements: firstly bone marrow and, thereafter, brain, retina, inner ear, and kidney. Partial adrenal insufficiency, rarely described in mitochondrial disorders, was a distinctive characteristic of this case. When our patient was treated with hydrocortisone, in addition to ubiquinone and carnitine, the episodes of decompensation regressed and an improvement of the adrenal insufficiency, but only temporary reversion of the weakness of muscle, ophthalmoplegia and of the fatigue, were testified. Nevertheless, after a brief period of recovery, she developed the de Toni-Debré-Fanconi syndrome and the reappearance of the neurological symptoms.
Background: Children with achondroplasia often have breathing problems, especially during sleep. ... more Background: Children with achondroplasia often have breathing problems, especially during sleep. The most important treatments are adenotonsillectomy (for treating upper obstruction) and/or neurosurgery (for resolving cervicomedullar junction stenosis). Data sources: We reviewed the scientific literature on polysomnographic investigations which assessed the severity of respiratory disorders during sleep. Results: Recent findings have highlighted the importance of clinical investigations in patients with achondroplasia, differentiating between those that look for neurological patterns and those that look for respiratory problems during sleep. In particular, magnetic resonance imaging (MRI) and somatosensory evoked potentials are the main tools to evaluate necessary neurosurgery and over myelopathy, respectively. Conclusions: The use of polysomnography enables clinicians to identify children with upper airway obstruction and to quantify disease severity; it is not suitable for MRI and/or neurosurgery considerations.
Background: Children with achondroplasia often have breathing problems, especially during sleep. ... more Background: Children with achondroplasia often have breathing problems, especially during sleep. The most important treatments are adenotonsillectomy (for treating upper obstruction) and/or neurosurgery (for resolving cervicomedullar junction stenosis). Data sources: We reviewed the scientific literature on polysomnographic investigations which assessed the severity of respiratory disorders during sleep. Results: Recent findings have highlighted the importance of clinical investigations in patients with achondroplasia, differentiating between those that look for neurological patterns and those that look for respiratory problems during sleep. In particular, magnetic resonance imaging (MRI) and somatosensory evoked potentials are the main tools to evaluate necessary neurosurgery and over myelopathy, respectively. Conclusions: The use of polysomnography enables clinicians to identify children with upper airway obstruction and to quantify disease severity; it is not suitable for MRI and/or neurosurgery considerations.
The causes of nocturnal enuresis (NE) are likely multi-factorial. It has been related to several ... more The causes of nocturnal enuresis (NE) are likely multi-factorial. It has been related to several (urological-nephrological-hormonal) reasons but clear and univocal pathogenesis remains mostly undetermined. Sleep disordered breathing (SDB) is a syndrome of upper airway dysfunction that occurs during sleep and is characterized by snoring and/or increased respiratory effort secondary to increased upper airway resistance and pharyngeal collapsibility. Adenotonsillar hypertrophy is the main cause of SDB in children. To date, several studies have associated childhood NE with coexistent SDB. Adenotonsillectomy was successful for both SDB and NE in about half of patients. Unfortunately, practical consensus guidelines for the management of primary NE do not mention, or marginally concern, SDB in these children, particularly in those who have treatment resistance and comorbidities. The concerns regard the concomitant presence of two relatively frequent sleep disorders, raising the question whether they are really coincidental problems of childhood. Core tip: Several studies have pointed out the high frequency of sleep disordered breathing (SDB) in children with nocturnal enuresis (NE), particularly refractory (medication resistant) or secondary. Practical consensus guidelines for NE, corroborated by recent investigation of the topics, need to be revisited considering the high recurrence of SDB in childhood NE and a high success rate of intervention for it. Zaffanello M. Enuresis and sleep disordered breathing: An old and new link. World J Clin Urol 2016; 5(3): 90-92 Available from:
Purpose of the study: Frequency of habitual snoring is significantly higher in obese than in norm... more Purpose of the study: Frequency of habitual snoring is significantly higher in obese than in normal-weight subjects. Obesity and adeno-tonsillar size are risk factors of snoring. Other factors, such as fat distribution and upper airway collapsibility, could explain the relationship between obesity, snoring and obtructive sleep apneas. The aim of the study was to investigate clinical and instrumental significance of snoring in exogenous obese children referred to our department. Methodology: This preliminary study takes part of a larger prospective respiratory sleep study. In 36 consecutive obese children (18 males), body mass index (BMI), BMI Z score and neck circumference were calculated according to age and sex. Nasal patency, tonsil size, palate position scoring were also recorded. An overnight polygraphy was performed using a portable ambulatory device. Statistical analysis was done using SPSS® Statistics 19.0 software for Windows®. Main findings: Snoring, objectively measured by polygraphy, was associated with palate position and with oxygen desaturation index (ODI). The correlation between snoring and ODI completely disappeared when adjusting for palate position scoring. Key conclusions: Low palate position can be identified as an adjunctive, although not unique, factor that can contribute to making snoring and increased desaturation events possibly related to increased risk of upper airway collapsibility during sleep in obese children.
Introduction: Both sleep-disordered breathing (SDB) and high blood pressure (BP) occur more frequ... more Introduction: Both sleep-disordered breathing (SDB) and high blood pressure (BP) occur more frequently among obese children than among normal weight children, and this may be due to endothelial dysfunction and worsened arterial stiffness. The aim of this study was to evaluate the possible association between SDB and BP, and the possible role of endothelial function and local and systemic arterial stiffness in a sample of obese children asymptomatic for sleep disturbances. Materials and methods: Thirty-nine obese children were included in the study. Children underwent overnight limited channel polysomnography, and the vascular measurements included the following: office and 24-h ambulatory BP; brachial flow-mediated dilatation, carotid intima–media thickness and carotid distensibility measured using ultrasound; and systemic arterial stiffness index measured using digital volume pulse analysis. Results: Significant correlations between different BP measurements (both office and ambulatory BP monitoring and estimated by Z score) and SDB were found, including correlations involving the respiratory disturbance index, the apnea–hypopnea index (AHI), the number of desaturations per hour and the mean peripheral saturation (r ranging between 0.330 and 0.474). Carotid distensibility was correlated with the AHI (r ¼ À0.367; P ¼ 0.030) and with the mean oxygen saturation (r ¼ 0.401; P ¼ 0.017). In contrast, there was no relationship among flow-mediated dilatation, stiffness index, carotid intima–media thickness and all the tested respiratory markers. In the multivariate analysis, the supine Z SBP remained independently associated with the number of desaturations per hour and the AHI, even after correction for carotid distensibility and BMI. Conclusion: Our data suggest that in obese children asymptomatic for sleep respiratory problems, SDB might worsen BP, in part, through an increase in arterial stiffness.
Mitochondrial cytopathy is a multisystemic disease that requires different pharmacological and sp... more Mitochondrial cytopathy is a multisystemic disease that requires different pharmacological and specialist approaches; although most therapies are usually of scarce effectiveness. We describe a clinical management of a very young girl with Pearson's syndrome that developed the symptoms of Kearns-Sayre syndrome. Many of symptoms were temporarily improved by the replacement therapy with hydrocortisone introduced to treat the partial adrenal insufficiency. During her life, she showed an ample clinical spectrum of symptoms because of multiple organs involvements: firstly bone marrow and, thereafter, brain, retina, inner ear, and kidney. Partial adrenal insufficiency, rarely described in mitochondrial disorders, was a distinctive characteristic of this case. When our patient was treated with hydrocortisone, in addition to ubiquinone and carnitine, the episodes of decompensation regressed and an improvement of the adrenal insufficiency, but only temporary reversion of the weakness of muscle, ophthalmoplegia and of the fatigue, were testified. Nevertheless, after a brief period of recovery, she developed the de Toni-Debré-Fanconi syndrome and the reappearance of the neurological symptoms.
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