-
The Kobe Journal of Medical Sciences Nov 2023The purpose of this study was to provide the experience of a single center with mandibular distraction osteogenesis (MDO) in Pierre Robin Sequence (PRS) patients. A...
The purpose of this study was to provide the experience of a single center with mandibular distraction osteogenesis (MDO) in Pierre Robin Sequence (PRS) patients. A longitudinal research analysis was conducted to identify PRS patients who underwent MDO at Vietnam National Children's Hospital between 2019 and 2021. The following criteria were used to determine inclusion: 1) those pediatric patients with PRS who were not well handled with conservative therapy, 2) those who received MDO with internal mandibular distractors, and 3) no previous treatment elsewhere. Demographic data, postoperative complications, and surgical results were all evaluated. The inclusion criteria were met by 73 patients. There were no difficulties associated with our distraction strategy. The majority of individuals with tracheostomies were successfully decannulated, and the remainder were able to avoid tracheostomies. Using MDO in PRS is an effective technique to avoid future airway issues. The success rate was lower and the complication rate higher for patients who had a tracheotomy before distraction and for those who underwent distraction at an age older than 2 months. The presence of laryngomalacia, gastric reflux disease, cardiac abnormalities, and GI anomalies did not increase the likelihood of MDO failure in PRS patients.
Topics: Humans; Infant; Child; Osteogenesis, Distraction; Pierre Robin Syndrome; Vietnam; Retrospective Studies; Treatment Outcome; Mandible
PubMed: 38018223
DOI: 10.24546/0100485260 -
The Kobe Journal of Medical Sciences Nov 2023The obstruction of the upper airway (UAO) in infants diagnosed with Robin Sequence (RS) is caused by micrognathia, and in severe cases, it can result in obstructive...
BACKGROUND
The obstruction of the upper airway (UAO) in infants diagnosed with Robin Sequence (RS) is caused by micrognathia, and in severe cases, it can result in obstructive sleep apnea (OSA). Mandibular distraction osteogenesis (MDO) is a secure and efficient remedy for significant UAO. However, there is insufficient data on the related cephalometric changes. Therefore, this study meticulously analyzes the mandibular cephalometric changes in infants with RS who have undergone MDO using internal devices. The aim is to gain a more comprehensive understanding of the short- and long-term impacts of distraction on the mandible.
METHODS
The study examined 73 consecutive cases of mandibular distraction osteogenesis (MDO) performed by a single surgeon. Preoperative and postoperative lateral cephalograms, as well as CT scans of the mandible, were utilized to assess population averages for both time points. A two-sample T-Test with equal variance was used for this analysis.
RESULTS
After the MDO procedure, 19 out of 21 cephalometric parameters exhibited significant morphological changes. On average, there were notable improvements of 20.3 mm (60.7%) in length, 9.8 mm (49.7%) in height, 12.6 mm (36.1%) in width, and 211% in airway parameters. However, most parameters showed only mild regression at the time of device removal and 6 to 12 months post-MDO. Nonetheless, the cephalometric parameters remained significantly improved compared to the preoperative measurements.
CONCLUSIONS
The use of cephalometric measurement is a potent approach that provides a clear and measurable understanding of how MDO influences both immediate and long-term growth of the mandible. This quantitative assessment of the effects of mandibular distraction allows for the refinement of surgical techniques and the optimization of outcomes. Therefore, incorporating cephalometric measurements in the evaluation of patients undergoing MDO can lead to better surgical planning and more favorable results.
Topics: Humans; Infant; Pierre Robin Syndrome; Osteogenesis, Distraction; Retrospective Studies; Treatment Outcome; Mandible
PubMed: 38018222
DOI: 10.24546/0100485259 -
Biomimetics (Basel, Switzerland) Nov 2023The Robin sequence is a congenital anomaly characterized by a triad of features: micrognathia, glossoptosis, and airway obstruction. This comprehensive historical review... (Review)
Review
The Robin sequence is a congenital anomaly characterized by a triad of features: micrognathia, glossoptosis, and airway obstruction. This comprehensive historical review maps the evolution of approaches and appliances for its treatment from the past to the current modern possibilities of an interdisciplinary combination of modern engineering, medicine, materials, and computer science combined approach with emphasis on designing appliances inspired by nature and individual human anatomy. Current biomimetic designs are clinically applied, resulting in appliances that are more efficient, comfortable, sustainable, and safer than legacy traditional designs. This review maps the treatment modalities that have been used for patients with a Robin sequence over the years. Early management of the Robin sequence focused primarily on airway maintenance and feeding support, while current management strategies involve both nonsurgical and surgical interventions and biomimetic biocompatible personalized appliances. The goal of this paper was to provide a review of the evolution of management strategies for patients with the Robin sequence that led to the current interdisciplinary biomimetic approaches impacting the future of Robin Sequence treatment with biomimetics at the forefront.
PubMed: 37999177
DOI: 10.3390/biomimetics8070536 -
European Journal of Human Genetics :... Jan 2024ATP2B1 encodes plasma membrane calcium-transporting-ATPase1 and plays an essential role in maintaining intracellular calcium homeostasis that regulates diverse signaling...
ATP2B1 encodes plasma membrane calcium-transporting-ATPase1 and plays an essential role in maintaining intracellular calcium homeostasis that regulates diverse signaling pathways. Heterozygous de novo missense and truncating ATP2B1 variants are associated with a neurodevelopmental phenotype of variable expressivity. We describe a proband with distinctive craniofacial gestalt, Pierre-Robin sequence, neurodevelopmental and growth deficit, periventricular heterotopia, brachymesophalangy, cutaneous syndactyly, and persistent hypocalcemia from primary hypoparathyroidism. Proband-parent trio exome sequencing identified compound heterozygous ATP2B1 variants: a maternally inherited splice-site (c.3060+2 T > G) and paternally inherited missense c.2938 G > T; p.(Val980Leu). Reverse-transcription-PCR on the proband's fibroblast-derived mRNA showed aberrantly spliced ATP2B1 transcripts targeted for nonsense-mediated decay. All correctly-spliced ATP2B1 mRNA encoding p.(Val980Leu) functionally causes decreased cellular Ca extrusion. Immunoblotting showed reduced fibroblast ATP2B1. We conclude that biallelic ATP2B1 variants are the likely cause of the proband's phenotype, strengthening the association of ATP2B1 as a neurodevelopmental gene and expanding the phenotypic characterization of a biallelic loss-of-function genotype.
Topics: Humans; Calcium; Phenotype; Genotype; RNA, Messenger; Hypoparathyroidism; Plasma Membrane Calcium-Transporting ATPases
PubMed: 37926713
DOI: 10.1038/s41431-023-01484-9 -
Heliyon Oct 2023Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare disease characterized by appearance of premature aging, including the skin, bones, heart, and blood...
An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review.
Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare disease characterized by appearance of premature aging, including the skin, bones, heart, and blood vessels caused by LMNA mutation. In this study, the patient presented with congenital micrognathia and progressively aggravated upper airway obstruction as the initial symptom, which required bilateral mandibular distraction osteogenesis (MDO) surgery intervention. This was not commonly described in the literature, and the primary clinical diagnosis of Pierre Robin sequence (PRS) was made. However, other clinical features included sclerotic skin, dry skin, growth failure, lipoatrophy, joint stiffness, prominent scalp veins, small ear lobes, hair loss, and craniofacial disproportion gradually emerged, the diagnosis of HGPS was preferred when the patient was 5 months old. The genetic testing result with a novel and de novo LMNA mutation (c.1968 + 3_1968+6delGAGT) further confirmed the diagnosis and expanded the clinical and mutational spectrum of HGPS. During the 12-month follow-up period after surgery, the patient no longer suffered dyspnea. Complications of other organs and systems have not happened at the moment. In addition, the pathogenesis, the role of LMNA gene mutation, the progress in clinical treatment, and breakthrough studies about genetic treatment in animals of HGPS are described in the literature review.
PubMed: 37916118
DOI: 10.1016/j.heliyon.2023.e20857 -
Children (Basel, Switzerland) Sep 2023The Tübingen Palatal Plate (TPP) is a minimally invasive yet highly effective functional orthodontic treatment for upper airway obstruction in infants with Robin... (Review)
Review
The Tübingen Palatal Plate (TPP) is a minimally invasive yet highly effective functional orthodontic treatment for upper airway obstruction in infants with Robin Sequence (RS). It consists of a palatal plate to cover the cleft and a velar extension that shifts the root of the tongue forward. We review our practical experience with this approach. First, upon admission, our local orthodontists perform an (3-D) intraoral scan of the maxilla. Based on the scan data, the TPP is manufactured in a semi-digital workflow. The length and angulation of its extension is checked via awake laryngoscopy and the effectiveness confirmed by a sleep study. Plates are kept in place by adhesive cream. When inserting the TPP, the tip of the tongue must be visible. Next, metal fixation bows should be secured to the forehead using tape and elastic bands. Plates are removed daily for cleaning, and the oral mucosa is then checked for pressure marks. Feeding training (initially only via finger feeding) may even start before plate insertion. Breathing often normalizes immediately once the plate is inserted. For isolated RS, we have never had to perform a tracheostomy. This has largely been possible through our highly dedicated and competent team, particularly the nursing staff, and the early involvement of parents.
PubMed: 37892291
DOI: 10.3390/children10101628 -
Frontiers in Pediatrics 2023We aimed to measure the related indicators of the neonatal mandible in East China. This provides basic data for the study of the mandible position and morphology of...
OBJECTIVE
We aimed to measure the related indicators of the neonatal mandible in East China. This provides basic data for the study of the mandible position and morphology of normal newborns and can also provide data support for the diagnosis, evaluation, and treatment of the Pierre Robin sequence.
METHODS
First, we collected the CT data of normal neonates at the Nanjing Children's Hospital Affiliated with Nanjing Medical University between January 2013 and January 2019. The data included the maxilla and mandible, and neonates had no craniomaxillofacial-related malformation. We exported the data in DICOM format. In the second step, we imported the data into MIMICS 21.0 to reconstruct the data into a 3D model, and then we used the model to measure the different measurement items. Specific measurement items were as follows: ① Measurement of the angle α: We imported the CT data of the neonate into the software and reconstructed a 3D model. We observed the 3D model to find the left and right gonions (LGo and RGo) and the Menton (Me) and used the angle measurement tool of the software to appoint Me as the apex, and we connected the points LGo, Me, and RGo as angle α. ② Measurement of the distance between the left and right gonions: The distance measurement tool of the software was used to measure the distance between the bilateral gonions as a. ③ Measurement of the distance from the Me to the line between LGo and RGo: The LGo and RGo were connected as a line on the 3D model, then the distance between Me and the line was measured as b. ④ Measurement of the distance between the upper and lower jaw: The median sagittal view was found and the distance c between the foremost point of the upper jaw and the foremost point of the lower jaw was measured. We imported the measurement results into the SPSS software for statistical analysis.
RESULTS
Specific measurement results: ① Angle α: 86.34 ± 8.58°. ② Distance a: 63.63 ± 6.83 mm. ③ Distance b: 31.99 ± 3.70 mm. ④ Distance c: 2.28 ± 1.04 mm. Among all the above indicators, there was no statistical difference between gender.
CONCLUSIONS
In this study, 132 neonates were initially screened, of which 117 met the inclusion criteria and were finally included. There were 69 male and 48 female neonates. The indicators α, a, b, and c showed no statistical differences between male and female neonates; therefore, we combined the results to obtain the normal reference value: angle α: 86.34 ± 8.58°; distance a: 63.63 ± 6.83 mm; distance b: 31.99 ± 3.70 mm; distance c: 2.28 ± 1.04 mm.
PubMed: 37645036
DOI: 10.3389/fped.2023.1172909 -
Journal of Clinical Medicine Jul 2023Clomiphene citrate (CC) is one of the first-line treatments for ovulation induction in women with anovulatory polycystic ovary syndrome (PCOS). However, nearly 1 out of...
RESEARCH QUESTION
Clomiphene citrate (CC) is one of the first-line treatments for ovulation induction in women with anovulatory polycystic ovary syndrome (PCOS). However, nearly 1 out of 2 women is resistant to 50 mg/day of CC. The objective of this study is to investigate the clinical, biological, and/or ultrasound factors that may predict the resistance to 50 mg/day of CC in the first cycle of treatment in women with anovulatory PCOS. This would make it possible to identify PCOS patients to whom the dose of 100 mg/day would be offered as of the first cycle.
DESIGN
A retrospective and monocentric study was conducted on 283 women with anovulatory PCOS who required the use of ovulation induction with CC (903 cycles).
RESULTS
During the first cycle of treatment, 104 patients (36.8%) were resistant to 50 mg/day of CC. Univariate regression analysis showed that patients who resisted 50 mg/day of CC had significantly higher BMI, waist circumference, serum levels of AMH, total testosterone, Δ4-androstenedione, 17-OHP, and insulin ( < 0.05), compared to patients ovulating with this dose. Serum levels of SHBG were significantly lower in patients resistant to 50 mg/day ( < 0.05). After multivariate analysis, only AMH and SHBG remained statistically significant ( = 0.01 and = 0.001, respectively). However, areas under the ROC curves were weak (0.59 and 0.68, respectively).
CONCLUSION
AMH and SHBG are the only two parameters significantly associated with the risk of resistance to 50 mg/day of CC. However, no satisfactory thresholds have been established to predict resistance to 50 mg CC.
PubMed: 37568345
DOI: 10.3390/jcm12154943