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Debra E Weesemayer - One of the best experts on this subject based on the ideXlab platform.

  • perioperative anesthetic management of children with congenital central Hypoventilation syndrome and rapid onset obesity with hypothalamic dysfunction Hypoventilation and autonomic dysregulation undergoing thoracoscopic phrenic nerve diaphragm pacemaker implantation
    Pediatric Anesthesia, 2018
    Co-Authors: Heather A Ballard, Debra E Weesemayer, Olga S Leavitt, Anthony C Chin, Rashmi Kabre, John Hajduk, Narasimhan Jagannathan
    Abstract:

    BACKGROUND Congenital Central Hypoventilation Syndrome and Rapid-Onset Obesity with Hypothalamic dysfunction, Hypoventilation, and Autonomic Dysregulation are rare neurocristopathies characterized by autonomic dysregulation including bradyarrhythmias, abnormal temperature control, and most significantly, abnormal control of breathing leading to tracheostomy and ventilator dependence as life support. Surgical advancements have made phrenic nerve-diaphragm pacemakers available, to eliminate the tether to a mechanical ventilator for 12-15 hours each day. The thoracoscopic approach to implantation has allowed for a less invasive approach which may have implications for pain control and recovery time. However, thoracoscopic implantation of these devices presents several challenges to the anesthesiologist in these complex ventilator-dependent patients, including, but not limited to, sequential lung isolation, prevention of hypothermia, and management of arrhythmias. Postoperative challenges may also include strategies to treat hemodynamic instability, managing the ventilator following lung derecruitment, and providing adequate pain control. AIMS We aimed to describe the anesthetic management of Congenital Central Hypoventilation Syndrome and Rapid-Onset Obesity with Hypothalamic dysfunction, Hypoventilation, and Autonomic Dysregulation patients undergoing thoracoscopic phrenic nerve-diaphragm pacemaker implantation and the nature and incidence of perioperative complications. METHODS A retrospective chart review was performed of 14 children with Congenital Central Hypoventilation Syndrome and Rapid-Onset Obesity with Hypothalamic dysfunction, Hypoventilation, and Autonomic Dysregulation undergoing phrenic nerve-diaphragm pacemaker implantation at a single academic pediatric hospital between 2009 and 2017. Demographic information, intraoperative management, and perioperative complications were analyzed from patient records. RESULTS Twelve of 14 patients (86%) underwent an inhalational induction via tracheostomy. Lung isolation was achieved via fiberoptic guidance of a single lumen endotracheal tube sequentially into the right or left mainstem bronchi for 12 patients (86%). Double lumen endotracheal tubes were utilized in two patients (7%) and bronchial blockers in two patients (7%) for lung isolation. Anesthesia was maintained using a balanced technique of volatile agents (sevoflurane/isoflurane) and opioids (fentanyl). Bradyarrhythmias developed in six patients (43%) during surgery, 5 (36%) responded to anticholinergics and one patient (7%) required backup cardiac pacing using a previously implanted bipolar cardiac pacemaker. Intraoperative hypothermia ( 50 mm Hg) during lung isolation was present in eight patients (57%) and hemoglobin desaturation (<90%) in four patients (29%). Postoperatively, oxygen desaturation was a common complication with nine patients (64%) requiring supplemental oxygen administration via mechanical ventilator or manual bag ventilation. Opioids via patient-controlled analgesia devices (12 patients, 86%) or intermittent injection (two patients, 14%) were administered to all patients for postoperative pain control. Phrenic nerve-diaphragm pacemaker placement was successful thoracoscopically in all patients with no perioperative mortality. CONCLUSION The main anesthetic challenges in patients with Congenital Central Hypoventilation Syndrome and Rapid-Onset Obesity with Hypothalamic dysfunction, Hypoventilation, and Autonomic Dysregulation include hemodynamic instability, the propensity to develop hypothermia, hypercarbia/hypoxemia, and the need to perform bilateral sequential lung isolation requisite to the thoracoscopic implantation technique. Most anesthetic agents can be used safely in these patients; however, adequate knowledge of the susceptibility to complications, coupled with adequate preparation and understanding of the innate disease characteristics, are necessary to treat anticipated complications.

  • mutations in myo1h cause a recessive form of central Hypoventilation with autonomic dysfunction
    Journal of Medical Genetics, 2017
    Co-Authors: Debra E Weesemayer, Malte Spielmann, Luis R Hernandezmiranda, Isabella Ceccherini, Bjort K Kragesteen, Izabela Harabula, Peter Krawitz, Carmen Birchmeier
    Abstract:

    Background Congenital central Hypoventilation syndrome (CCHS) is a rare life-threatening disorder of respiratory and autonomic regulation. It is classically caused by dominant mutations in the transcription factor PHOX2B . The objective of the present study was to identify the molecular cause of a recessive form of central Hypoventilation with autonomic dysfunction. Methods Here, we used homozygosity mapping and whole-genome sequencing in a consanguineous family with CCHS in combination with functional analyses in CRISPR/Cas9 engineered mice. Results We report on a consanguineous family with three affected children, all tested PHOX2B mutation negative, presenting with alveolar Hypoventilation and symptoms of autonomic dysregulation. Whole-genome sequencing revealed a homozygous frameshift mutation in exon 25 of the MYO1H gene (c.2524_2524delA) segregating with the phenotype in the family. MYO1H encodes for the unconventional myosin IH, which is thought to function as a motor protein in intracellular transport and vesicle trafficking. We show that Myo1h is broadly expressed in the mouse lower medulla, including the CO 2 -sensitive Phox2b+ retrotrapezoid neurons. To test the pathogenicity of the variant, we engineered two Myo1h mutant mouse strains: the first strain ( Myo1h* ) resembling the human mutation and the second being a full knock-out ( Myo1h FS ). Whole-body plethysmography studies in Myo1h* newborns with the re-engineered human mutation revealed Hypoventilation and a blunted response to CO 2 , recapitulating the breathing phenotype observed in the kindred. Conclusions Our results identify MYO1H as an important gene in CO 2 sensitivity and respiratory control and as the cause of a rare recessive form of congenital central Hypoventilation.

  • congenital central Hypoventilation syndrome a neurocristopathy with disordered respiratory control and autonomic regulation
    Clinics in Chest Medicine, 2014
    Co-Authors: Casey M Rand, Michael S Carroll, Debra E Weesemayer
    Abstract:

    : Congenital central Hypoventilation syndrome (CCHS), a rare neurocristopathy with disordered respiratory control, is characterized by alveolar Hypoventilation and diffuse autonomic nervous system (ANS) dysregulation. Mutations in the paired-like homeobox 2B (PHOX2B) are causative, leading to physiologic ANS dysregulation and pathologic abnormalities. Presentation is typically during the newborn period with alveolar Hypoventilation during sleep, or in more severely affected individuals, during sleep and wakefulness. Breathing complications occur despite the lungs and airways being normal. Disordered respiratory control demonstrated by absent or severely attenuated ventilatory, behavioral, and arousal responses to both endogenous and exogenous hypoxemia and hypercarbia results in severe physiologic compromise.

  • congenital central Hypoventilation syndrome and sudden infant death syndrome disorders of autonomic regulation
    Seminars in Pediatric Neurology, 2013
    Co-Authors: Casey M Rand, Pallavi P Patwari, Michael S Carroll, Debra E Weesemayer
    Abstract:

    Long considered a rare and unique disorder of respiratory control, congenital central Hypoventilation syndrome has recently been further distinguished as a disorder of autonomic regulation. Similarly, more recent evidence suggests that sudden infant death syndrome is also a disorder of autonomic regulation. Congenital central Hypoventilation syndrome typically presents in the newborn period with alveolar Hypoventilation, symptoms of autonomic dysregulation and, in a subset of cases, Hirschsprung disease or tumors of neural crest origin or both. Genetic investigation identified PHOX2B , a crucial gene during early autonomic development, as disease defining for congenital central Hypoventilation syndrome. Although sudden infant death syndrome is most likely defined by complex multifactorial genetic and environmental interactions, it is also thought to result from central deficits in the control of breathing and autonomic regulation. The purpose of this article is to review the current understanding of these autonomic disorders and discuss the influence of this information on clinical practice and future research directions.

  • pupillometry in congenital central Hypoventilation syndrome cchs quantitative evidence of autonomic nervous system dysregulation
    Pediatric Research, 2012
    Co-Authors: Pallavi P Patwari, Casey M Rand, Michael S Carroll, Anna S Kenny, Tracey M Stewart, Nancy L Kuntz, Cindy D Brogadir, Debra E Weesemayer
    Abstract:

    Pupillometry in congenital central Hypoventilation syndrome (CCHS): quantitative evidence of autonomic nervous system dysregulation

Casey M Rand - One of the best experts on this subject based on the ideXlab platform.

  • congenital central Hypoventilation syndrome a neurocristopathy with disordered respiratory control and autonomic regulation
    Clinics in Chest Medicine, 2014
    Co-Authors: Casey M Rand, Michael S Carroll, Debra E Weesemayer
    Abstract:

    : Congenital central Hypoventilation syndrome (CCHS), a rare neurocristopathy with disordered respiratory control, is characterized by alveolar Hypoventilation and diffuse autonomic nervous system (ANS) dysregulation. Mutations in the paired-like homeobox 2B (PHOX2B) are causative, leading to physiologic ANS dysregulation and pathologic abnormalities. Presentation is typically during the newborn period with alveolar Hypoventilation during sleep, or in more severely affected individuals, during sleep and wakefulness. Breathing complications occur despite the lungs and airways being normal. Disordered respiratory control demonstrated by absent or severely attenuated ventilatory, behavioral, and arousal responses to both endogenous and exogenous hypoxemia and hypercarbia results in severe physiologic compromise.

  • congenital central Hypoventilation syndrome and sudden infant death syndrome disorders of autonomic regulation
    Seminars in Pediatric Neurology, 2013
    Co-Authors: Casey M Rand, Pallavi P Patwari, Michael S Carroll, Debra E Weesemayer
    Abstract:

    Long considered a rare and unique disorder of respiratory control, congenital central Hypoventilation syndrome has recently been further distinguished as a disorder of autonomic regulation. Similarly, more recent evidence suggests that sudden infant death syndrome is also a disorder of autonomic regulation. Congenital central Hypoventilation syndrome typically presents in the newborn period with alveolar Hypoventilation, symptoms of autonomic dysregulation and, in a subset of cases, Hirschsprung disease or tumors of neural crest origin or both. Genetic investigation identified PHOX2B , a crucial gene during early autonomic development, as disease defining for congenital central Hypoventilation syndrome. Although sudden infant death syndrome is most likely defined by complex multifactorial genetic and environmental interactions, it is also thought to result from central deficits in the control of breathing and autonomic regulation. The purpose of this article is to review the current understanding of these autonomic disorders and discuss the influence of this information on clinical practice and future research directions.

  • pupillometry in congenital central Hypoventilation syndrome cchs quantitative evidence of autonomic nervous system dysregulation
    Pediatric Research, 2012
    Co-Authors: Pallavi P Patwari, Casey M Rand, Michael S Carroll, Anna S Kenny, Tracey M Stewart, Nancy L Kuntz, Cindy D Brogadir, Debra E Weesemayer
    Abstract:

    Pupillometry in congenital central Hypoventilation syndrome (CCHS): quantitative evidence of autonomic nervous system dysregulation

  • rapid onset obesity with hypothalamic dysfunction Hypoventilation and autonomic dysregulation presenting in childhood
    Pediatrics, 2007
    Co-Authors: Diego Izeludlow, Casey M Rand, Elizabeth Berrykravis, Juliette Gray, Mark A Sperling, Jeff M Milunsky, Sadaf I Farooqi, Debra E Weesemayer
    Abstract:

    OBJECTIVE.The goal was to characterize the phenotype and potential candidate genes responsible for the syndrome of late-onset central Hypoventilation with hypothalamic dysfunction. METHODS.Individuals with late-onset central Hypoventilation with hypothalamic dysfunction who were referred to Rush University Medical Center for clinical or genetic assessment in the past 3 years were identified, and medical charts were reviewed to determine shared characteristics of the affected subjects. Blood was collected for genetic testing of candidate genes (PHOX2B, TRKB, and BDNF) and for high-resolution conventional G-banding, subtelomeric fluorescent in situ hybridization, and comparative genomic hybridization analysis. A subset of these children were studied in the Pediatric Respiratory Physiology Laboratory at Rush University Medical Center. RESULTS.Twenty-three children with what we are now naming rapid-onset obesity with hypothalamic dysfunction, Hypoventilation, and autonomic dysregulation were identified. Comprehensive medical charts and blood for genetic testing were available for 15 children; respiratory physiology studies were performed at Rush University Medical Center on 9 children. The most characteristic manifestations were the presentation of rapid-onset obesity in the first 10 years of life (median age at onset: 3 years), followed by hypothalamic dysfunction and then onset of symptoms of autonomic dysregulation (median age at onset: 3.6 years) with later onset of alveolar Hypoventilation (median age at onset: 6.2 years). Testing of candidate genes (PHOX2B, TRKB, and BDNF) revealed no mutations or rare variants. High-resolution chromosome analysis, comparative genomic hybridization, and subtelomeric fluorescent in situ hybridization results were negative for the 2 patients selected for those analyses. CONCLUSIONS.We provide a comprehensive description of the clinical spectrum of rapid-onset obesity with hypothalamic dysfunction, Hypoventilation, and auto

  • congenital central Hypoventilation syndrome
    American Journal of Respiratory and Critical Care Medicine, 2006
    Co-Authors: Elizabeth Berrykravis, Casey M Rand, Lili Zhou, Debra E Weesemayer
    Abstract:

    Rationale: Congenital central Hypoventilation syndrome (CCHS), a unique disorder of respiratory control associated with Hirschsprung disease (HSCR) and tumors of neural crest origin, results from polyalanine repeat expansion mutations in the paired-like homeobox (PHOX)2B gene in more than 90% of cases, and alternative PHOX2B mutations in remaining cases.Objectives: To characterize CCHS-associated nonpolyalanine repeat mutations in PHOX2B, evaluate genotype–phenotype relationships, and compare clinical features of CCHS in cases with nonpolyalanine repeat mutations to those with polyalanine expansion mutations.Methods: DNA from probands was analyzed by polymerase chain reaction for the common polyalanine repeat expansion. If no expansion was present, coding regions and intron–exon boundaries of PHOX2B were sequenced. When possible, parents and siblings were screened for the mutation found in the proband.Results: Fourteen nonpolyalanine repeat mutations, including missense, nonsense, and frameshift mutations...

Babak Mokhlesi - One of the best experts on this subject based on the ideXlab platform.

  • cpap titration failure is not equivalent to long term cpap treatment failure in patients with obesity Hypoventilation syndrome a case series
    Journal of Clinical Sleep Medicine, 2020
    Co-Authors: Alejandra Lastra, Juan F Masa, Babak Mokhlesi
    Abstract:

    Study Objectives:Medium and long-term trials comparing continuous positive airway pressure (CPAP) with noninvasive ventilation in patients with obesity Hypoventilation syndrome have shown no differ...

  • echocardiographic changes with positive airway pressure therapy in obesity Hypoventilation syndrome long term pickwick randomized controlled clinical trial
    American Journal of Respiratory and Critical Care Medicine, 2020
    Co-Authors: Juan F Masa, Babak Mokhlesi, Ivan Benitez, Francisco Javier Gomez De Terreros, Maria A Sanchezquiroga, Auxiliadora Romero, Candela Caballeroeraso, Maria Luz Alonsoalvarez, Maria Victoria Mogollon, Estrella Ordaxcarbajo
    Abstract:

    Rationale: Obesity Hypoventilation syndrome (OHS) has been associated with cardiac dysfunction. However, randomized trials assessing the impact of long-term noninvasive ventilation (NIV) or continu...

  • obesity Hypoventilation syndrome
    European Respiratory Review, 2019
    Co-Authors: Juan F Masa, Jeanlouis Pepin, Babak Mokhlesi, Jeanchristian Borel, Patrick B Murphy, Maria A Sanchezquiroga
    Abstract:

    Obesity Hypoventilation syndrome (OHS) is defined as hypercapnia ­during wakefulness in an obese patient, without any other known cause, accompanied with some form of sleep-disordered breathing as reported by Mokhlesi et al. (Proc Am Thorac Soc 5:218–25, 2008). Although the effects of OHS are inadequately studied, available data show that morbidity and mortality are high. Among those with obstructive sleep apnea (OSA), risk factors for having OHS include a higher body mass index (BMI), an increased severity of sleep-disordered breathing, and a restrictive defect on pulmonary function testing. While the pathophysiology of the disorder remains unclear, it likely involves the presence of several defects, most notably a blunted central respiratory drive. The most effective treatment option consists of ventilatory support during sleep, in the form of positive airway pressure therapy, with or without supplemental oxygen.

  • Obesity Hypoventilation syndrome
    European Respiratory Society, 2019
    Co-Authors: Juan F Masa, Jeanlouis Pepin, Babak Mokhlesi, Jeanchristian Borel, Patrick B Murphy, Maria Ángeles Sánchez-quiroga
    Abstract:

    Obesity Hypoventilation syndrome (OHS) is defined as a combination of obesity (body mass index ≥30 kg·m−2), daytime hypercapnia (arterial carbon dioxide tension ≥45 mmHg) and sleep disordered breathing, after ruling out other disorders that may cause alveolar Hypoventilation. OHS prevalence has been estimated to be ∼0.4% of the adult population. OHS is typically diagnosed during an episode of acute-on-chronic hypercapnic respiratory failure or when symptoms lead to pulmonary or sleep consultation in stable conditions. The diagnosis is firmly established after arterial blood gases and a sleep study. The presence of daytime hypercapnia is explained by several co-existing mechanisms such as obesity-related changes in the respiratory system, alterations in respiratory drive and breathing abnormalities during sleep. The most frequent comorbidities are metabolic and cardiovascular, mainly heart failure, coronary disease and pulmonary hypertension. Both continuous positive airway pressure (CPAP) and noninvasive ventilation (NIV) improve clinical symptoms, quality of life, gas exchange, and sleep disordered breathing. CPAP is considered the first-line treatment modality for OHS phenotype with concomitant severe obstructive sleep apnoea, whereas NIV is preferred in the minority of OHS patients with Hypoventilation during sleep with no or milder forms of obstructive sleep apnoea (approximately

  • Avoiding Management Errors in Patients with Obesity Hypoventilation Syndrome.
    Annals of the American Thoracic Society, 2016
    Co-Authors: Constantine A. Manthous, Babak Mokhlesi
    Abstract:

    The prevalence of obesity Hypoventilation syndrome and obstructive sleep apnea are increasing rapidly in the United States in parallel with the obesity epidemic. As the pathogenesis of this chronic illness is better understood, effective evidence-based therapies are being deployed to reduce morbidity and mortality. Nevertheless, patients with obesity Hypoventilation still fall prey to at least four avoidable types of therapeutic errors, especially at the time of hospitalization for respiratory or cardiovascular decompensation: (1) patients with obesity Hypoventilation syndrome may develop acute hypercapnia in response to administration of excessive supplemental oxygen; (2) excessive diuresis for peripheral edema using a loop diuretic such as furosemide exacerbates metabolic alkalosis, thereby worsening daytime Hypoventilation and hypoxemia; (3) excessive or premature pharmacological treatment of psychiatric illnesses can exacerbate sleep-disordered breathing and worsen hypercapnia, thereby exacerbating psychiatric symptoms; and (4) clinicians often erroneously diagnose obstructive lung disease in patients with obesity Hypoventilation, thereby exposing them to unnecessary and potentially harmful medications, including β-agonists and corticosteroids. Just as literary descriptions of pickwickian syndrome have given way to greater understanding of the pathophysiology of obesity Hypoventilation, clinicians might exercise caution to consider these potential pitfalls and thus avoid inflicting unintended and avoidable complications.

Elizabeth Berrykravis - One of the best experts on this subject based on the ideXlab platform.

  • rapid onset obesity with hypothalamic dysfunction Hypoventilation and autonomic dysregulation presenting in childhood
    Pediatrics, 2007
    Co-Authors: Diego Izeludlow, Casey M Rand, Elizabeth Berrykravis, Juliette Gray, Mark A Sperling, Jeff M Milunsky, Sadaf I Farooqi, Debra E Weesemayer
    Abstract:

    OBJECTIVE.The goal was to characterize the phenotype and potential candidate genes responsible for the syndrome of late-onset central Hypoventilation with hypothalamic dysfunction. METHODS.Individuals with late-onset central Hypoventilation with hypothalamic dysfunction who were referred to Rush University Medical Center for clinical or genetic assessment in the past 3 years were identified, and medical charts were reviewed to determine shared characteristics of the affected subjects. Blood was collected for genetic testing of candidate genes (PHOX2B, TRKB, and BDNF) and for high-resolution conventional G-banding, subtelomeric fluorescent in situ hybridization, and comparative genomic hybridization analysis. A subset of these children were studied in the Pediatric Respiratory Physiology Laboratory at Rush University Medical Center. RESULTS.Twenty-three children with what we are now naming rapid-onset obesity with hypothalamic dysfunction, Hypoventilation, and autonomic dysregulation were identified. Comprehensive medical charts and blood for genetic testing were available for 15 children; respiratory physiology studies were performed at Rush University Medical Center on 9 children. The most characteristic manifestations were the presentation of rapid-onset obesity in the first 10 years of life (median age at onset: 3 years), followed by hypothalamic dysfunction and then onset of symptoms of autonomic dysregulation (median age at onset: 3.6 years) with later onset of alveolar Hypoventilation (median age at onset: 6.2 years). Testing of candidate genes (PHOX2B, TRKB, and BDNF) revealed no mutations or rare variants. High-resolution chromosome analysis, comparative genomic hybridization, and subtelomeric fluorescent in situ hybridization results were negative for the 2 patients selected for those analyses. CONCLUSIONS.We provide a comprehensive description of the clinical spectrum of rapid-onset obesity with hypothalamic dysfunction, Hypoventilation, and auto

  • congenital central Hypoventilation syndrome
    American Journal of Respiratory and Critical Care Medicine, 2006
    Co-Authors: Elizabeth Berrykravis, Casey M Rand, Lili Zhou, Debra E Weesemayer
    Abstract:

    Rationale: Congenital central Hypoventilation syndrome (CCHS), a unique disorder of respiratory control associated with Hirschsprung disease (HSCR) and tumors of neural crest origin, results from polyalanine repeat expansion mutations in the paired-like homeobox (PHOX)2B gene in more than 90% of cases, and alternative PHOX2B mutations in remaining cases.Objectives: To characterize CCHS-associated nonpolyalanine repeat mutations in PHOX2B, evaluate genotype–phenotype relationships, and compare clinical features of CCHS in cases with nonpolyalanine repeat mutations to those with polyalanine expansion mutations.Methods: DNA from probands was analyzed by polymerase chain reaction for the common polyalanine repeat expansion. If no expansion was present, coding regions and intron–exon boundaries of PHOX2B were sequenced. When possible, parents and siblings were screened for the mutation found in the proband.Results: Fourteen nonpolyalanine repeat mutations, including missense, nonsense, and frameshift mutations...

  • phox2b mutation confirmed congenital central Hypoventilation syndrome presentation in adulthood
    American Journal of Respiratory and Critical Care Medicine, 2006
    Co-Authors: Nicholas Antic, Amy L Olson, Beth A Malow, Neale R Lange, Doug R Mcevoy, Peter Turkington, Wolfram Windisch, Martin Samuels, Cathy A Stevens, Elizabeth Berrykravis
    Abstract:

    Congenital central Hypoventilation syndrome (CCHS) typically presents in the newborn period. A case series of five adults is presented, each heterozygous for a documented polyalanine expansion mutation in the PHOX2B gene and evidence of nocturnal alveolar Hypoventilation. All cases had symptoms in childhood, but survived to adulthood without ventilatory support. After identification of physiologic compromise, artificial ventilation was initiated. These adults have the mildest of the CCHS-related PHOX2B polyalanine expansion mutations, coding for only five extra alanines; three of the adults have affected offspring. Report of these cases should lead to a more rapid identification of CCHS presenting in adulthood.

  • characterization of dermatoglyphics in phox2b confirmed congenital central Hypoventilation syndrome
    Pediatrics, 2006
    Co-Authors: Emily S Todd, Debra E Weesemayer, Nicole M Scott, Seth M Weinberg, Elizabeth Berrykravis, Jean M Silvestri, Anna S Kenny, Susan A Hauptman, Lili Zhou
    Abstract:

    OBJECTIVE. Individuals with congenital central Hypoventilation syndrome have characteristic variants in the PHOX2B gene (primarily polyalanine expansion mutations). The PHOX2B gene acts as a transcriptional activator in the promotion of pan-neuronal differentiation in the autonomic nervous system during early embryologic development, with a primary role in the sympathetic noradrenergic phenotype in vertebrates. Because sympathetic innervation has been hypothesized to affect the development of dermatoglyphic pattern types, we hypothesized that individuals with PHOX2B-confirmed congenital central Hypoventilation syndrome would have characteristic dermatoglyphic patterning and that the dermatoglyphic phenotype would be related to the disease-defining PHOX2B genotype. METHODS. Dermatoglyphic pattern type frequency, left/right symmetry, and genotype/phenotype correlation were assessed for 33 individuals with PHOX2B-confirmed congenital central Hypoventilation syndrome and compared with published control data. RESULTS. Dermatoglyphic pattern type frequencies were altered in congenital central Hypoventilation syndrome cases versus controls. In particular, there was an increase of arches in females and ulnar loops in males, with the largest differences for the left hand and for individuals with both congenital central Hypoventilation syndrome and Hirschsprung disease. Dissimilarity scores between the congenital central Hypoventilation syndrome and congenital central Hypoventilation syndrome + Hirschsprung disease cases were not significantly different, nor were dissimilarity scores between all of the female and all of the male cases. No significant association was found between the number of polyalanine repeats in the PHOX2B genotypic category and dermatoglyphic pattern frequencies in the congenital central Hypoventilation syndrome study groups. CONCLUSIONS. These results represent the first report describing specific dermatoglyphic patterning in congenital central Hypoventilation syndrome and suggest a relationship between PHOX2B and the expression of dermatoglyphic pattern types. An expanded congenital central Hypoventilation syndrome data set to include the full spectrum of PHOX2B mutations is necessary to further delineate the role of PHOX2B in dermatoglyphic patterning.

Pallavi P Patwari - One of the best experts on this subject based on the ideXlab platform.