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Clinical Oral Investigations Jul 2022We aimed to determine the neurocognitive development of cleft palate patients with and without Robin sequence (RS).
OBJECTIVES
We aimed to determine the neurocognitive development of cleft palate patients with and without Robin sequence (RS).
MATERIALS AND METHODS
Children with isolated RS with cleft palate and children with cleft palate only (CPO) were contacted at the age of 5-6 years. All RS children had undergone initial polygraphic sleep study (PG) with a mixed-obstructive apnea index (MOAI) of ≥ 3/h and were consequently treated with the Tuebingen palatal plate. A standardized clinical examination as well as a neuropediatric and neuropsychological examination included the Wechsler Pre-school and Primary Scale of Intelligence (WPPSI-III), Kaufman Assessment Battery for Children (K-ABC), and an assessment of developmental milestones.
RESULTS
In total, 44 children (22RS, 22CPO) were included. RS children were younger at study (70.5 ± 7.3 and 75.2 ± 7.5 months; P = .035). Both groups achieved the evaluated milestones within the normed time frame. WPPSI-III and K-ABC results showed no group differences. Mean values for Verbal IQ (101.8 ± 11.1 vs. 97.1 ± 15.7), Performance IQ (102.9 ± 12.1 vs. 99.6 ± 14.5), Processing Speed Quotient (98.9 ± 15.6 vs. 94.5 ± 15.7), Full-Scale IQ (103.2 ± 12.1 vs. 98.4 ± 15.3), and Sequential Processing Scale (102.1 ± 13.1 vs. 94.2 ± 17.3) were within the reference range (IQ 85-115) for RS and CPO children, respectively, indicating average performance of both groups.
CONCLUSION
No neurocognitive, physical, or mental impairments were detected suggesting that RS children having upper airway obstruction (UAO) treated early and effectively may use their potential for an age-appropriate neurocognitive development.
CLINICAL RELEVANCE
Tuebingen palatal plate treatment successfully releases UAO. Thus, isolated RS does not necessarily result in developmental delay or an impaired neurocognitive outcome.
TRIAL REGISTRATION
Deutsches Register Klinischer Studien, DRKS00006831, https://www.drks.de/drks_web/.
Topics: Child; Child, Preschool; Cleft Palate; Humans; Neuropsychological Tests; Pierre Robin Syndrome; Polysomnography; Reference Values
PubMed: 35306608
DOI: 10.1007/s00784-022-04448-3 -
Clinical Case Reports Mar 2022The case was a 4-day-old boy referred to the hospital with a diagnosis of Pierre Robin Sequence and with airway Obstruction. Using a laryngoscope in the hyperextended...
The case was a 4-day-old boy referred to the hospital with a diagnosis of Pierre Robin Sequence and with airway Obstruction. Using a laryngoscope in the hyperextended position and putting pressure on the cricoid, the vocal cords were visualized, and with the help of an assistant, the intubation was performed.
PubMed: 35280079
DOI: 10.1002/ccr3.5547 -
Annals of Maxillofacial Surgery 2021This study aimed to determine if the treatment algorithm used for nonsyndromic cleft patients required alteration to manage syndromic cleft lip and/or palate patients.
INTRODUCTION
This study aimed to determine if the treatment algorithm used for nonsyndromic cleft patients required alteration to manage syndromic cleft lip and/or palate patients.
METHODS
The records of patients managed by the Pécs Cleft Team between January 1999 and December 2015 were analyzed retrospectively. The sources of the data included clinical and genetic records.
RESULTS
A total of 607 patients were managed by the cleft team during the study. Sixteen patients (2.6%) were noted to be afflicted with a particular identifiable syndrome. Seven different genetic syndromes and one sequence were present in the study. The Pierre Robin sequence occurred most often, comprising 50% of the cohort. The treatment algorithm used in managing nonsyndromic clefts required modification in 13 of the 16 syndromic patients.
DISCUSSION
The presence of a genetic syndrome may notably affect the treatment algorithm in children born with cleft lip and/or palate. The surgical treatment of certain associated anomalies has by necessity, priority over the timing of the reconstruction of the cleft lip and/or cleft palate in syndromic patients.
PubMed: 35265497
DOI: 10.4103/ams.ams_77_21 -
Orphanet Journal of Rare Diseases Mar 2022Individuals with pathogenic variants in SATB2 display intellectual disability, speech and behavioral disorders, dental abnormalities and often features of Pierre Robin...
BACKGROUND
Individuals with pathogenic variants in SATB2 display intellectual disability, speech and behavioral disorders, dental abnormalities and often features of Pierre Robin sequence. SATB2 encodes a transcription factor thought to play a role in bone remodeling. The primary aim of our study was to systematically review the skeletal manifestations of SATB2-associated syndrome. For this purpose, we performed a non-interventional, multicenter cohort study, from 2017 to 2018. We included 19 patients, 9 females and 10 males ranging in age from 2 to 19 years-old. The following data were collected prospectively for each patient: clinical data, bone markers and calcium and phosphate metabolism parameters, skeletal X-rays and bone mineral density.
RESULTS
Digitiform impressions were present in 8/14 patients (57%). Vertebral compression fractures affected 6/17 patients (35%). Skeletal demineralization (16/17, 94%) and cortical thinning of vertebrae (15/17) were the most frequent radiological features at the spine. Long bones were generally demineralized (18/19). The distal phalanges were short, thick and abnormally shaped. C-telopeptide (CTX) and Alkaline phosphatase levels were in the upper normal values and osteocalcin and serum procollagen type 1 amino-terminal propeptide (P1NP) were both increased. Vitamin D insufficiency was frequent (66.7%).
CONCLUSION
We conclude that SATB2 pathogenic variants are responsible for skeletal demineralization and osteoporosis. We found increased levels of bone formation markers, supporting the key role of SATB2 in osteoblast differentiation. These results support the need for bone evaluation in children and adult patients with SATB2-associated syndrome (SAS).
Topics: Adolescent; Adult; Biomarkers; Bone Density; Bone and Bones; Child; Child, Preschool; Cohort Studies; Female; Fractures, Compression; Humans; Male; Matrix Attachment Region Binding Proteins; Prospective Studies; Spinal Fractures; Syndrome; Transcription Factors; Young Adult
PubMed: 35241104
DOI: 10.1186/s13023-022-02229-5 -
Journal of Surgical Case Reports Dec 2021Pierre-Robin sequence (PRS) patients frequently exhibit symptoms of airway obstruction due to multiple etiologies, predominantly from glossoptosis and tongue base...
Pierre-Robin sequence (PRS) patients frequently exhibit symptoms of airway obstruction due to multiple etiologies, predominantly from glossoptosis and tongue base obstruction. Rarely, these patients can have palatal mass and even rarer is one of neural origin. To date, there are few reports of heterotopic neural tissue causing airway obstruction in literature, and there are only two reports related to PRS. The objective of this report is to detail a PRS patient with obstructive airway symptoms that resolved after removal of a right-sided soft palatal mass containing heterotopic neural tissue. A 5-month-old boy with a past medical history of cleft palate, PRS status-post-mandibular distraction osteogenesis was hospitalized after continuing respiratory distress. Imaging showed a cystic submucosal mass that arose from the right soft palate. Trans-palatal and trans-oral approaches were applied for the removal. The patient tolerated the procedure well and his obstructive events have resolved at follow-up.
PubMed: 34992764
DOI: 10.1093/jscr/rjab510 -
Frontiers in Genetics 2021Andersen-Tawil Syndrome (ATS) is a rare disease defined by the association of cardiac arrhythmias, periodic paralysis and dysmorphic features, and is caused by...
Andersen-Tawil Syndrome (ATS) is a rare disease defined by the association of cardiac arrhythmias, periodic paralysis and dysmorphic features, and is caused by loss-of-function mutations. However, when extracardiac symptoms are atypical or absent, the patient can be diagnosed with Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), a rare arrhythmia at high risk of sudden death, mostly due to mutations. The identification of variants in CPVT suspicion is very rare but important because beta blockers, the cornerstone of CPVT therapy, could be less efficient. We report here the cases of two patients addressed for CPVT-like phenotypes. Genetic investigations led to the identification of p. Arg82Trp and p. Pro186Gln variants in the gene Functional studies showed that both variants forms of Kir2.1 monomers act as dominant negative and drastically reduced the activity of the tetrameric channel. We characterize here a new pathogenic variant (p.Pro186Gln) of gene and highlight the interest of accurate cardiologic evaluation and of attention to extracardiac signs to distinguish CPVT from atypical ATS, and guide therapeutic decisions. We also confirm that the gene must be investigated during CPVT molecular analysis.
PubMed: 34899860
DOI: 10.3389/fgene.2021.773177 -
Predicting 90-day survival of patients with COVID-19: Survival of Severely Ill COVID (SOSIC) scores.Annals of Intensive Care Dec 2021Predicting outcomes of critically ill intensive care unit (ICU) patients with coronavirus-19 disease (COVID-19) is a major challenge to avoid futile, and prolonged ICU...
BACKGROUND
Predicting outcomes of critically ill intensive care unit (ICU) patients with coronavirus-19 disease (COVID-19) is a major challenge to avoid futile, and prolonged ICU stays.
METHODS
The objective was to develop predictive survival models for patients with COVID-19 after 1-to-2 weeks in ICU. Based on the COVID-ICU cohort, which prospectively collected characteristics, management, and outcomes of critically ill patients with COVID-19. Machine learning was used to develop dynamic, clinically useful models able to predict 90-day mortality using ICU data collected on day (D) 1, D7 or D14.
RESULTS
Survival of Severely Ill COVID (SOSIC)-1, SOSIC-7, and SOSIC-14 scores were constructed with 4244, 2877, and 1349 patients, respectively, randomly assigned to development or test datasets. The three models selected 15 ICU-entry variables recorded on D1, D7, or D14. Cardiovascular, renal, and pulmonary functions on prediction D7 or D14 were among the most heavily weighted inputs for both models. For the test dataset, SOSIC-7's area under the ROC curve was slightly higher (0.80 [0.74-0.86]) than those for SOSIC-1 (0.76 [0.71-0.81]) and SOSIC-14 (0.76 [0.68-0.83]). Similarly, SOSIC-1 and SOSIC-7 had excellent calibration curves, with similar Brier scores for the three models.
CONCLUSION
The SOSIC scores showed that entering 15 to 27 baseline and dynamic clinical parameters into an automatable XGBoost algorithm can potentially accurately predict the likely 90-day mortality post-ICU admission (sosic.shinyapps.io/shiny). Although external SOSIC-score validation is still needed, it is an additional tool to strengthen decisions about life-sustaining treatments and informing family members of likely prognosis.
PubMed: 34897559
DOI: 10.1186/s13613-021-00956-9 -
Ultraschall in Der Medizin (Stuttgart,... Jun 2023To determine whether the prefrontal space ratio (PSFR), inferior facial (IFA) and maxilla-nasion-mandible angle (MNM), and the fetal profile line (FPL) are helpful in...
OBJECTIVE
To determine whether the prefrontal space ratio (PSFR), inferior facial (IFA) and maxilla-nasion-mandible angle (MNM), and the fetal profile line (FPL) are helpful in identifying fetuses with Robin sequence (RS) in cases with isolated retrognathia, and thus better predict the likelihood of immediate need for postnatal respiratory support.
METHODS
This was a retrospective matched case-control study of fetuses/infants with isolated retrognathia with or without RS receiving pre- and postnatal treatment at the University Hospital of Tübingen, Germany between 2008 and 2020. The PFSR, IFA, MNM, and FPL were measured in affected and normal fetuses according to standardized protocols. Cases were stratified into isolated retrognathia and RS.
RESULTS
21 (n=7 isolated retrognathia, n=14 RS) affected fetuses and 252 normal fetuses were included. Their median gestational age at ultrasound examination was 23.6 and 24.1 weeks, respectively. In fetuses with isolated retrognathia and RS, the PSFR, IFA, and FPL were significantly different from the normal population. At a false-positive rate of 5%, the detection rate was 76.2% for the PFSR, 85.7% for the IFA, and 90.5% for both parameters combined. However, all parameters failed to distinguish between isolated retrognathia and RS.
CONCLUSION
PSFR and IFA are simple markers for identifying retrognathia prenatally. However, they are not helpful for the detection of RS in fetuses with isolated retrognathia. Therefore, delivery should take place in a center experienced with RS and potentially life-threatening airway obstruction immediately after birth.
Topics: Female; Pregnancy; Humans; Pierre Robin Syndrome; Retrognathia; Retrospective Studies; Case-Control Studies; Ultrasonography, Prenatal; Fetus
PubMed: 34852370
DOI: 10.1055/a-1659-2499 -
Frontiers in Pediatrics 2021By comparing and studying the changes of food intake, weight, body length, BMI, blood albumin level and other indicators of infants with Pierre-Robin Sequence (PRS)...
By comparing and studying the changes of food intake, weight, body length, BMI, blood albumin level and other indicators of infants with Pierre-Robin Sequence (PRS) before and after Bilateral Mandible Distraction Osteogenesis operation, to explore the effect of distraction osteogenesis on PRS patients about the improvement of nutrition status. The children with PRS who admitted to the Oral and Maxillofacial Surgery Department of Guangzhou Women and Children's Medical Center from July 2015 to December 2020 were selected. All patients accepted bilateral mandible distraction osteogenesis surgery, and the pre- and post-operative indicators were recorded, such as food intake, weight, length, blood albumin level and others. BMI was calculated based on the indicators mentioned above, and comparative statistical analysis was performed. 1. All patients were fed with whole milk before the first surgery, and the average calorie per kg was 91.8 kcal/kg, significantly lower than the standard (100-150 kcal/kg), suggesting the overall nutritional intake of PRS patients is low; 2. tests for independent samples were used to analyze the pre-operative and post-operative indicators. The WFA percentile increased from 14.16 ± 2.17 to 15.01 ± 1.85% ( = 0.0048), WFA score increased from -2.40 ± 0.18 to -1.90 ± 0.14 after the surgery ( = 0.0010), LFA percentile increased from 20.04 ± 3.48 to 33.67 ± 4.29% ( = 0.0098), LFA z score increased from -2.09 ± 0.19 to -1.42 ± 0.23 ( = 0.0009), BMI score increased from -1.95 ± 0.22 to -1.39 ± 0.16 ( = 0.0408), ALB raised from 37.06 ± 0.51 to 42.85 ± 0.30 g/L ( < 0.001), which indicating that the physique of patients improved after the distraction osteogenesis surgery, mainly was reflected by the lifting of weight and length growth curves; the body shape also improved, indicating that the patients' nutrition status after the surgery is also improved. Bilateral mandible distraction osteogenesis surgery has a positive effect on the nutrition status of children with PRS. This effect is mainly reflected by the improvements of the body physical indicators after surgery.
PubMed: 34778154
DOI: 10.3389/fped.2021.771333 -
Seminars in Fetal & Neonatal Medicine Dec 2021A Robin sequence parent presents the view that Robin sequence healthcare providers are engaging in practices which may be outdated, excessively invasive, and... (Review)
Review
A Robin sequence parent presents the view that Robin sequence healthcare providers are engaging in practices which may be outdated, excessively invasive, and unnecessarily detrimental to quality of life, and proposes possible areas of research to improve patient outcomes.
Topics: Humans; Infant; Parents; Pierre Robin Syndrome; Quality of Life
PubMed: 34688586
DOI: 10.1016/j.siny.2021.101288