-
The Cleft Palate-craniofacial Journal :... Feb 2024To identify weight gain trends of infants with Robin sequence (RS) treated by the Stanford Orthodontic Airway Plate treatment (SOAP).
OBJECTIVE
To identify weight gain trends of infants with Robin sequence (RS) treated by the Stanford Orthodontic Airway Plate treatment (SOAP).
DESIGN
Retrospective longitudinal cohort study.
SETTING
Single tertiary referral hospital.
PATIENTS
Eleven infants with RS treated with SOAP.
INTERVENTIONS
Nonsurgical SOAP.
MAIN OUTCOME MEASURES
Body weight, Weight-for-age (WFA) Z-scores, and WFA percentiles at birth (T0), SOAP delivery (T1), SOAP graduation (T2), and 12-months old (T3).
RESULTS
Between T0 and T1, the weight increased but the WFA percentile decreased from 36.5% to 15.1%, and the Z-score worsened from -0.43 to -1.44. From T1 to T2, the percentile improved to 22.55% and the Z-score to -0.94. From T2 to T3, the percentile and the Z-scores further improved to 36.59% and -0.48, respectively.
CONCLUSIONS
SOAP provided infants experiencing severe respiratory distress and oral feeding difficulty with an opportunity to gain weight commensurate with the WHO healthy norms without surgical intervention.
PubMed: 38373407
DOI: 10.1177/10556656241233239 -
Journal of Clinical Sleep Medicine :... Jul 2024Sleep laboratory polysomnography is the gold standard for obstructive sleep apnea (OSA) diagnosis in infants, but its access remains limited. Oximetry-capnography is...
STUDY OBJECTIVES
Sleep laboratory polysomnography is the gold standard for obstructive sleep apnea (OSA) diagnosis in infants, but its access remains limited. Oximetry-capnography is another simple and widely used tool that can provide information on the presence of desaturations and alveolar hypoventilation. However, its reliability is debated. This study aimed at examining its use in determining OSA severity in infants.
METHODS
This retrospective study was conducted in a sleep unit in a tertiary hospital in infants < 4 months old with clinical signs of OSA or Pierre Robin sequence who underwent a 1-night polysomnography coupled with oximetry-capnography.
RESULTS
Among the 78 infants included (median [interquartile range] age: 61 [45-89] days at polysomnography), 44 presented with Pierre Robin sequence and 34 presented with isolated airway obstruction. The clinical, sleep, and respiratory characteristics were not significantly different between the 2 subgroups. In the entire cohort, 63.5% had severe OSA. The median obstructive apnea-hypopnea index was 14.5 (7.4-5.9) events/h, peripheral oxygen saturation (SpO) was 97.4% (96.5-98.1%), and transcutaneous carbon dioxide pressure (PtcCO) was 41.1 mmHg (38.3-44.9). The optimal threshold to predict an obstructive apnea-hypopnea index > 10 events/h was 6 events/h for an oxygen desaturation index ≥ 3% (sensitivity, 95.7%; specificity, 51.9%) and 2 events/h for an oxygen desaturation index ≥ 4% (sensitivity, 95.7%; specificity, 48.1%).
CONCLUSIONS
Whereas transcutaneous capnography does not appear to be sufficient in predicting severe OSA in infants < 4 months old with Pierre Robin sequence or clinical signs of OSA, oximetry may be a useful alternative for the screening of severe OSA in infants in the absence of polysomnography.
CITATION
Gyapay R, Ioan I, Thieux M, et al. Gas exchange parameters for the prediction of obstructive sleep apnea in infants. . 2024;20(7):1059-1067.
Topics: Humans; Sleep Apnea, Obstructive; Retrospective Studies; Male; Female; Infant; Polysomnography; Oximetry; Capnography; Infant, Newborn; Reproducibility of Results; Pierre Robin Syndrome; Pulmonary Gas Exchange
PubMed: 38372169
DOI: 10.5664/jcsm.11064 -
International Journal of Molecular... Jan 2024We report the case of a four-year-old male patient with a complex medical history born prematurely as the result of intrauterine growth restriction due to placental...
Dysfunctional Postnatal Mitochondrial Energy Metabolism in a Patient with Neurodevelopmental Defects Caused by Intrauterine Growth Restriction Due to Idiopathic Placental Insufficiency.
We report the case of a four-year-old male patient with a complex medical history born prematurely as the result of intrauterine growth restriction due to placental insufficiency. His clinical manifestations included severe neurodevelopmental deficits, global developmental delay, Pierre-Robin sequence, and intractable epilepsy with both generalized and focal features. The proband's low levels of citrulline and lactic acidosis provoked by administration of Depakoke were evocative of a mitochondrial etiology. The proband's genotype-phenotype correlation remained undefined in the absence of nuclear and mitochondrial pathogenic variants detected by deep sequencing of both genomes. However, live-cell mitochondrial metabolic investigations provided evidence of a deficient oxidative-phosphorylation pathway responsible for adenosine triphosphate (ATP) synthesis, leading to chronic energy crisis in the proband. In addition, our metabolic analysis revealed metabolic plasticity in favor of glycolysis for ATP synthesis. Our mitochondrial morphometric analysis by transmission electron microscopy confirmed the suspected mitochondrial etiology, as the proband's mitochondria exhibited an immature morphology with poorly developed and rare cristae. Thus, our results support the concept that suboptimal levels of intrauterine oxygen and nutrients alter fetal mitochondrial metabolic reprogramming toward oxidative phosphorylation (OXPHOS) leading to a deficient postnatal mitochondrial energy metabolism. In conclusion, our collective studies shed light on the long-term postnatal mitochondrial pathophysiology caused by intrauterine growth restriction due to idiopathic placental insufficiency and its negative impact on the energy-demanding development of the fetal and postnatal brain.
Topics: Male; Humans; Female; Pregnancy; Child, Preschool; Fetal Growth Retardation; Placental Insufficiency; Placenta; Energy Metabolism; Mitochondria; Adenosine Triphosphate
PubMed: 38338665
DOI: 10.3390/ijms25031386 -
Journal of Clinical Orthopaedics and... Feb 2024Pierre Robin sequence is a rare congenital disorder with variable associations. A two-year-old female child was brought in with complaints of an abnormal gait and right...
Pierre Robin sequence is a rare congenital disorder with variable associations. A two-year-old female child was brought in with complaints of an abnormal gait and right lower limb shortening. A comprehensive clinical evaluation unveiled facial characteristics resembling those of Pierre Robin Sequence, including micrognathia, a cleft palate, and glossoptosis. The child also exhibited retrognathia, a low posterior hairline, bilateral developmental dysplasia of the hips, right foot syndactyly, and a left ectopic kidney as confirmed by ultrasonography. Radiological examination showed bilateral developmental dysplastic hips. The connection between Pierre Robin sequence and the presence of bilateral dysplastic hips and an ectopic kidney is an unusual and rare combination.
PubMed: 38323076
DOI: 10.1016/j.jcot.2024.102336 -
Journal of Clinical Sleep Medicine :... Jun 2024The author recently observed a case involving a 12-year-old sighted girl who exhibited symptoms typical of non-24-hour sleep-wake rhythm disorder (N24SWD). This...
UNLABELLED
The author recently observed a case involving a 12-year-old sighted girl who exhibited symptoms typical of non-24-hour sleep-wake rhythm disorder (N24SWD). This disorder, more commonly found in blind individuals, presents a unique challenge when diagnosed in those with vision. Several interventions can be attempted, ranging from behavioral adjustments to light therapy. Although melatonin has been noted for its effectiveness in realigning the patient's sleep-wake cycle, the use of ramelteon, a melatonin receptor agonist, has seldom been reported in managing N24SWD. However, this case illuminates the potential of ramelteon as another therapeutic option for sighted individuals with N24SWD. Further study is suggested to determine the potential of ramelteon in managing this disorder among sighted individuals of varying age groups.
CITATION
Huang C-H. Managing non-24-hour sleep-wake rhythm disorder with ramelteon in a 12-year-old girl with Pierre Robin sequence and developmental delay: a case report. . 2024;20(6):995-997.
Topics: Humans; Female; Child; Indenes; Sleep Disorders, Circadian Rhythm; Developmental Disabilities; Pierre Robin Syndrome; Polysomnography
PubMed: 38305773
DOI: 10.5664/jcsm.11048 -
The Cleft Palate-craniofacial Journal :... Feb 2024The only findings consistent among infants with Robin sequence (RS) are the presence of micrognathia, glossoptosis, and upper airway obstruction (UAO). Feeding and...
OBJECTIVE
The only findings consistent among infants with Robin sequence (RS) are the presence of micrognathia, glossoptosis, and upper airway obstruction (UAO). Feeding and growth dysfunction are typical. The etiopathogenesis of these findings, however, is highly variable, ranging from sporadic to syndromic causes, with widely disparate levels of severity. This heterogeneity has created inconsistency within RS literature and debate about appropriate workup and treatment. Despite several attempts at stratification, no system has been broadly adopted.
DESIGN
We recently presented a novel classification that is summarized by the acronym . Each of 5 elements is scored: gnathia, utrition, irway, alate, yndrome/comorbidities, and element scores are summarized into a "stage".
RESULTS
Testing of this system in a sample of 100 infants from our center found it to be clinically relevant and to predict important management decisions and outcomes.
CONCLUSIONS
We herein present an interactive website (www.prscalculator.com) and printable reference card for simple application of MicroNAPS, and we advocate for this classification system to be adopted for clinical care and research.
PubMed: 38303142
DOI: 10.1177/10556656241229892 -
Cureus Dec 2023Stickler syndrome is a connective tissue disease with the pathogenic involvement of procollagen genes. It is characterized by ocular and joint abnormalities, hearing...
Stickler syndrome is a connective tissue disease with the pathogenic involvement of procollagen genes. It is characterized by ocular and joint abnormalities, hearing loss, and midfacial hypoplasia. In Stickler syndrome, the Pierre Robin sequence is a possible complication. A 30-year-old female was admitted at 33 weeks of gestation. She had a genetic diagnosis of Stickler syndrome type 1. The parturient was diagnosed with preeclampsia, and a decision was made to terminate the pregnancy via cesarean section. Combined spinal epidural anesthesia was planned. Pediatricians were included in the operating room in case of neonatal resuscitation. The mother's perioperative course was stable. The neonate needed directional positive airway pressure. He was strongly suspected of having Stickler syndrome. For those with Stickler syndrome undergoing cesarean sections, the risk of a difficult airway must be considered for both the parturient and the neonate. Adequate staffing and collaboration among anesthesiologists, obstetricians, and pediatricians are crucial.
PubMed: 38283465
DOI: 10.7759/cureus.51190 -
The Journal of Craniofacial Surgery Jan 2024Though it has made significant strides, Vietnam remains a resource-constrained country of 98 million people. Vietnam National Children's Hospital (VNCH) provides...
Implementation of Mandibular Distraction Osteogenesis for Patients With Pierre Robin Sequence in a Developing Country Through International Collaboration: A Paradigm for Success.
OBJECTIVE
Though it has made significant strides, Vietnam remains a resource-constrained country of 98 million people. Vietnam National Children's Hospital (VNCH) provides tertiary care to a catchment of 40 million people and is the sole national children's hospital. As such, it is one of the few referral centers in the country equipped to take care of patients diagnosed with Pierre Robin sequence (PRS) as this requires pulmonary, critical care, otolaryngology, and plastic surgery expertise. Before 2015, the only surgical options were tongue lip adhesion or tracheostomy. Only 20% of patients successfully avoided tracheostomy, mechanical ventilation, or death. From 2015 to 2019, mandibular distraction osteogenesis (MDO) was introduced by visiting international surgeons on a short-term basis. Since 2020, local surgeons at VNCH have refined their technique and widely use MDO independently. This report seeks to capitulate their experience and identify factors leading to success.
METHODS
A retrospective review was conducted of patients diagnosed with PRS at VNCH from 2015 to 2022. Paper records were digitized, translated, and reviewed for inclusion criteria, including demographics, indications, hospital course, and postoperative outcomes.
RESULTS
Complete records satisfying inclusion criteria were available for 53 patients with a diagnosis of PRS who underwent MDO from 2020 to 2022. From 2015 to 2019, there were 19 cases of MDO, though records were incomplete. The median age at the time of MDO was 50 ± 43 days. Forty patients (75.5%) had isolated PRS and 13 (24.5%) were syndromic. Forty-four patients (83%) had a cleft palate. Fifty-one (96.2%) of patients required preoperative supplemental oxygen or mechanical ventilation. The active distraction and consolidation phase was 4.8 ± 1.3 months. The median days to discharge after surgery was 19.0 ± 8.3 days. Median weight at birth, at the time of surgery, and at the time of device removal were 6.8 ± 1.2, 7.7 ± 1.9, and 14.8 ± 2.8 pounds, respectively. Fifty-two patients (98.1%) had obstructive sleep apnea preoperatively with an average Apnea Hypopnea Index of 25.0 ± 10.6. Post-MDO, only 4 (7.5%) had obstructive sleep apnea and the average Apnea Hypopnea Index was 5.2 ± 0.6. No patients (0) required a tracheostomy for a 100% success rate.
CONCLUSIONS
The tremendous success of the implementation of MDO by local surgeons in Vietnam after its introduction by visiting international surgeons illustrates a paradigm for capacity-enhancing global surgical endeavors. Mandibular distraction osteogenesis has replaced tongue lip adhesion as the surgical treatment of choice for PRS patients at VNCH. Surgical techniques can be transferred to operating environments with basic infrastructure through collaboration and resource optimization. These results demonstrate that global surgical engagement may be scalable and repeatable with direct benefits for patients in lower-middle-income countries.
PubMed: 38231188
DOI: 10.1097/SCS.0000000000009934 -
Archives of Disease in Childhood Feb 2024
Topics: Humans; Ireland; Pierre Robin Syndrome; United Kingdom
PubMed: 38199816
DOI: 10.1136/archdischild-2023-326079 -
Annals of General Psychiatry Jan 2024The present study aimed at assessing the prevalences of post-traumatic stress disorder (PTSD) (main objective), anxiety, depression, and burnout syndrome (BOS) and their...
Occurrences of post-traumatic stress disorder, anxiety, depression, and burnout syndrome in ICU staff workers after two-year of the COVID-19 pandemic: the international PSY-CO in ICU study.
PURPOSE
The present study aimed at assessing the prevalences of post-traumatic stress disorder (PTSD) (main objective), anxiety, depression, and burnout syndrome (BOS) and their associated factors in intensive care unit (ICU) staff workers in the second year of the COVID-19 pandemic.
MATERIALS AND METHODS
An international cross-sectional multicenter ICU-based online survey was carried out among the ICU staff workers in 20 ICUs across 3 continents. ICUs staff workers (both caregivers and non-caregivers) were invited to complete PCL-5, HADS, and MBI questionnaires for assessing PTSD, anxiety, depression, and the different components of BOS, respectively. A personal questionnaire was used to isolate independent associated factors with these disorders.
RESULTS
PCL-5, HADS, and MBI questionnaires were completed by 585, 570, and 539 responders, respectively (525 completed all questionnaires). PTSD was diagnosed in 98/585 responders (16.8%). Changing familial environment, being a non-caregiver staff worker, having not being involved in a COVID-19 patient admission, having not been provided with COVID-19-related information were associated with PTSD. Anxiety was reported in 130/570 responders (22.8%). Working in a public hospital, being a woman, being financially impacted, being a non-clinical healthcare staff member, having no theoretical or practical training on individual preventive measures, and fear of managing COVID-19 patients were associated with anxiety. Depression was reported in 50/570 responders (8.8%). Comorbidity at risk of severe COVID-19, working in a public hospital, looking after a child, being a non-caregiver staff member, having no information, and a request for moving from the unit were associated with depression. Having received no information and no adequate training for COVID-19 patient management were associated with all 3 dimensions of BOS.
CONCLUSION
The present study confirmed that ICU staff workers, whether they treated COVID-19 patients or not, have a substantial prevalence of psychological disorders.
PubMed: 38172994
DOI: 10.1186/s12991-023-00488-5