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Journal of Orofacial Orthopedics =... Mar 2024To compare the oral health-related quality of life (OHRQoL) in patients with cleft lip and/or palate or Robin sequence versus a healthy control group using the Child...
PURPOSE
To compare the oral health-related quality of life (OHRQoL) in patients with cleft lip and/or palate or Robin sequence versus a healthy control group using the Child Oral Health Impact Profile (COHIP-G19). Factors such as age, gender, and cleft type were considered.
METHODS
Over an 8-month period, the OHRQoL was surveyed by using the COHIP-G19 questionnaire. Included were patients with a craniofacial disorder (n = 61; average age 11.24 years) and a healthy control group (n = 70, average age 12.63 years) for a total of 131 patients (average age 11.99 years) from the Department of Orthodontics University Hospital Tübingen, Germany. These were divided into two age groups (6-11 years; 12-18 years).
RESULTS
Statistically, patients with a craniofacial disorder presented a significantly lower OHRQoL than the control group (p = 0.0055). In the craniofacial disorder group, older patients revealed a significantly (p = 0.005) lower OHRQoL than the younger patients. Female patients showed in nearly all groups a better OHRQoL than male patients, but this difference was not statistically significant (p > 0.05). Males with a craniofacial disorder scored significantly lower than males without (p = 0.016); females showed no differences between the groups. Visibility, location, and severity of the craniofacial malformation did not have a significant influence on the OHRQoL.
CONCLUSION
The occurrence of a craniofacial malformation impacted the OHRQoL especially in older and male affected patients, unrelated to the expression level or localization. An early instruction about oral health, rehabilitation and functional training should be considered in therapy.
Topics: Child; Humans; Male; Female; Aged; Cleft Lip; Quality of Life; Cleft Palate; Pierre Robin Syndrome; Oral Health; Surveys and Questionnaires
PubMed: 35852562
DOI: 10.1007/s00056-022-00414-6 -
Maturitas Sep 2022The aim of these recommendations is to set forth an individualized approach to the management of early postmenopausal women (i.e., within the first 10 years after... (Review)
Review
Management of postmenopausal women: Collège National des Gynécologues et Obstétriciens Français (CNGOF) and Groupe d'Etude sur la Ménopause et le Vieillissement (GEMVi) Clinical Practice Guidelines.
AIM
The aim of these recommendations is to set forth an individualized approach to the management of early postmenopausal women (i.e., within the first 10 years after natural menopause) covering all aspects of lifestyle and therapeutic management, with or without menopause hormone therapy (MHT).
MATERIALS AND METHODS
Literature review and consensus of French expert opinion. Recommendations were graded according to the HAS methodology and levels of evidence derived from the international literature, except when there was no good-quality evidence.
SUMMARY RECOMMENDATIONS
The beginning of menopause is an ideal time for each woman to evaluate her health status by assessing her bone, cardiovascular, and cancer-related risk factors that may be amplified by postmenopausal estrogen deficiency and by reviewing her lifestyle habits. Improving lifestyle, including nutrition and physical activity, and avoiding risk factors (notably smoking), should be recommended to all women. MHT remains the most effective treatment for vasomotor symptoms but it could be also recommended as first-line treatment for the prevention of osteoporosis in early postmenopausal women at low to moderate risk for fracture. The risks of MHT differ depending on its type, dose, duration of use, route of administration, timing of initiation, and whether a progestogen is used. There is reasonable evidence that using transdermal estradiol in association with micronized progesterone or dydrogesterone may limit both the venous thromboembolic risk associated with oral estrogens and the risk of breast cancer associated with synthetic progestins. Treatment should be individualized to each woman, by using the best available evidence to maximize benefits and minimize risks, with periodic reevaluation of its benefit-risk balance. For bothersome genitourinary syndrome of menopause (GSM) symptoms, vaginal treatment with lubricants and moisturizers is recommended as first-line treatment together with low-dose vaginal estrogen therapy, depending on the clinical course. No recommendation of an optimal duration of MHT can be made, but it must take into consideration the initial indication for MHT as well as each woman's benefit-risk balance. Management of gynecological side-effects of MHT is also examined. These recommendations are endorsed by the Groupe d'Etude sur la Ménopause et le Vieillissement hormonal (GEMVI) and the Collège National des Gynécologues-Obstétriciens Français (CNGOF).
Topics: Estrogen Replacement Therapy; Estrogens; Female; Humans; Menopause; Postmenopause; Practice Guidelines as Topic; Progestins
PubMed: 35717745
DOI: 10.1016/j.maturitas.2022.05.008 -
Plastic and Reconstructive Surgery.... Jun 2022Pierre Robin sequence (PRS) is characterized by mandibular micrognathia, glossoptosis, and airway obstruction. We report a case of a female infant with PRS in...
Pierre Robin sequence (PRS) is characterized by mandibular micrognathia, glossoptosis, and airway obstruction. We report a case of a female infant with PRS in combination with deletion of chromosome 4q and cardiac insufficiency due to an atrioventricular septum defect. The child was transferred to our center from a peripheral hospital with respiratory insufficiency. Initially, respiration was ensured using a continuous positive airway pressure (CPAP) device because a Tuebingen plate was not tolerated. After a pediatric cardiac surgery intervention, CPAP ventilation proved to be insufficient, and the young patient had to be resuscitated and endotracheal intubation was required for recurrent severe respiratory failure. To avoid tracheostomy, an interdisciplinary decision was made to perform an early mandibular distraction. In the fifth week of life, two patient-specific internal distractors were implanted after prior virtual surgery planning. This approach allows for shorter surgical time through preoperative vector planning and fabrication of a patient-specific distractor, in combination with reduced morbidity through maximum protection of adjacent structures such as the tooth follicles and inferior alveolar nerves. An advancement of the mandible by 15 mm could be achieved within 2 weeks. Thereafter, the small patient could be extubated successfully, and there was no further episode of major respiratory insufficiency. We demonstrate that mandibular early distraction with a patient-specific distractor is a successful method to treat severe respiratory insufficiency in PRS, and it can prevent the necessity for tracheostomy with the resulting disadvantages. We provide details concerning our therapeutic algorithm, metric analyses, and a discussion of relevant literature.
PubMed: 35685744
DOI: 10.1097/GOX.0000000000004361 -
Frontiers in Pediatrics 2022The aim of the study was to report our experience with placed allogenic acellular bone matrix and mandibular distraction osteogenesis in Pierre Robin sequence (PRS), and...
OBJECTIVE
The aim of the study was to report our experience with placed allogenic acellular bone matrix and mandibular distraction osteogenesis in Pierre Robin sequence (PRS), and explore the role of distraction in the osteogenesis of acellular bone.
MATERIALS AND METHODS
A total of 428 neonates with severe PRS managed with placing allogenic acellular bone and bilateral mandibular distraction osteogenesis were included in the study. The procedure included using oblique-shaped osteotomy, fixing bilateral mandibular distractor, instantly extending a 4-6 mm gap, and placing allogenic acellular bone into the gap. The length of allogenic acellular bone was 4-5 mm. Although the surgical techniques, distraction, and consolidation periods were similar, the allogenic acellular bone matrix we placed was quite different from the traditional distraction. With the technology we used, tracheal intubation could be immediately removed, thus quickly improving breathing conditions compared to traditional methods after the surgery. The jaw extending and oral feeding could begin on the 5th day. The jaw was extended 0.6 mm twice a day until the mandible was overcorrected by 20%.
RESULTS
All 428 cases included in this study were successfully extubated after the operation, and the difficulty in breathing was instantly relieved. Total mandibular distraction was 15-20 mm. Oral feeding was started at 6 h to 6 days postoperatively, while hospital stay ranged from 18 to 20 days postoperatively. No major complications were reported. Medium to long-term results was good. Mandibular distractors were removed after 3 months.
CONCLUSIONS
Bilateral mandibular distraction osteogenesis combined with placing allogenic acellular bone in the neonate are safe and accurate procedures, which are the primary treatment options for cases of severe PRS. It can be considered that the tension of distraction can promote osteogenesis in acellular bone and thus improve distractive effect of the mandible.
PubMed: 35676894
DOI: 10.3389/fped.2022.890156 -
The Journal of Clinical Investigation Jun 2022Skeletal muscle fibers contain hundreds of nuclei, which increase the overall transcriptional activity of the tissue and perform specialized functions. Multinucleation...
Skeletal muscle fibers contain hundreds of nuclei, which increase the overall transcriptional activity of the tissue and perform specialized functions. Multinucleation occurs through myoblast fusion, mediated by the muscle fusogens Myomaker (MYMK) and Myomixer (MYMX). We describe a human pedigree harboring a recessive truncating variant of the MYMX gene that eliminates an evolutionarily conserved extracellular hydrophobic domain of MYMX, thereby impairing fusogenic activity. Homozygosity of this human variant resulted in a spectrum of abnormalities that mimicked the clinical presentation of Carey-Fineman-Ziter syndrome (CFZS), caused by hypomorphic MYMK variants. Myoblasts generated from patient-derived induced pluripotent stem cells displayed defective fusion, and mice bearing the human MYMX variant died perinatally due to muscle abnormalities. In vitro assays showed that the human MYMX variant conferred minimal cell-cell fusogenicity, which could be restored with CRISPR/Cas9-mediated base editing, thus providing therapeutic potential for this disorder. Our findings identify MYMX as a recessive, monogenic human disease gene involved in CFZS, and provide new insights into the contribution of myoblast fusion to neuromuscular diseases.
Topics: Animals; Humans; Membrane Proteins; Mice; Mobius Syndrome; Muscle Proteins; Muscular Diseases; Pierre Robin Syndrome
PubMed: 35642635
DOI: 10.1172/JCI159002 -
The Cleft Palate-craniofacial Journal :... Nov 2023Prior research suggests that children with cleft palate (CP) are at increased risk of obstructive sleep-disordered breathing (SDB). However, few studies differentiate...
OBJECTIVE
Prior research suggests that children with cleft palate (CP) are at increased risk of obstructive sleep-disordered breathing (SDB). However, few studies differentiate the effects of CP repair on SDB based on syndrome status. The goal of this study was to evaluate differences in SDB after palatoplasty among children with nonsyndromic CP, syndromic CP, and isolated Robin sequence (RS).
DESIGN
Retrospective chart review.
SETTING
Tertiary academic children's hospital.
PATIENTS/PARTICIPANTS
A total of 145 children who underwent primary CP repair from 2014 to 2021.
MAIN OUTCOME MEASURE
Post-palatoplasty SDB is defined as parent-reported symptoms and/or evidence of obstructive sleep apnea (OSA).
RESULTS
Median age at palatoplasty was 11.1 [IQR 10.2-13.6] months. Most patients (61.4%) had nonsyndromic CP, 26.9% had a syndrome, and 11.7% had RS. Children with syndromic CP and RS had more post-palatoplasty SDB symptoms (56.4% vs 58.8% vs 30.3%, = .006) and higher rates of OSA (25.6% vs 29.4% vs 5.6%, = .001) compared to children with nonsyndromic CP after palatoplasty. Children with syndromic CP and RS had nearly 3 to 4 higher odds of post-palatoplasty SDB than children with nonsyndromic CP (adjusted odds ratio [aOR] 2.88, 95% CI 1.29-6.47, = .010; aOR 3.73, 95% CI 1.19-11.70, = .024).
CONCLUSION
This study showed that children with CP experience higher rates of SDB after palatoplasty than the general pediatric population. Within the cohort, children with syndromic CP and isolated RS were more likely to have obstructive sleep disorders than nonsyndromic children after palatoplasty. Clinicians should counsel caregivers accordingly and closely monitor these groups for SDB after palate repair.
Topics: Child; Humans; Infant; Cleft Palate; Retrospective Studies; Sleep Apnea Syndromes; Sleep Apnea, Obstructive; Pierre Robin Syndrome
PubMed: 35642260
DOI: 10.1177/10556656221105203 -
American Journal of Respiratory and... Aug 2022Whether patients with coronavirus disease (COVID-19) may benefit from extracorporeal membrane oxygenation (ECMO) compared with conventional invasive mechanical...
Whether patients with coronavirus disease (COVID-19) may benefit from extracorporeal membrane oxygenation (ECMO) compared with conventional invasive mechanical ventilation (IMV) remains unknown. To estimate the effect of ECMO on 90-day mortality versus IMV only. Among 4,244 critically ill adult patients with COVID-19 included in a multicenter cohort study, we emulated a target trial comparing the treatment strategies of initiating ECMO versus no ECMO within 7 days of IMV in patients with severe acute respiratory distress syndrome (Pa/Fi < 80 or Pa ⩾ 60 mm Hg). We controlled for confounding using a multivariable Cox model on the basis of predefined variables. A total of 1,235 patients met the full eligibility criteria for the emulated trial, among whom 164 patients initiated ECMO. The ECMO strategy had a higher survival probability on Day 7 from the onset of eligibility criteria (87% vs. 83%; risk difference, 4%; 95% confidence interval, 0-9%), which decreased during follow-up (survival on Day 90: 63% vs. 65%; risk difference, -2%; 95% confidence interval, -10 to 5%). However, ECMO was associated with higher survival when performed in high-volume ECMO centers or in regions where a specific ECMO network organization was set up to handle high demand and when initiated within the first 4 days of IMV and in patients who are profoundly hypoxemic. In an emulated trial on the basis of a nationwide COVID-19 cohort, we found differential survival over time of an ECMO compared with a no-ECMO strategy. However, ECMO was consistently associated with better outcomes when performed in high-volume centers and regions with ECMO capacities specifically organized to handle high demand.
Topics: Adult; COVID-19; Cohort Studies; Extracorporeal Membrane Oxygenation; Humans; Respiratory Distress Syndrome; Retrospective Studies; Treatment Outcome
PubMed: 35533052
DOI: 10.1164/rccm.202111-2495OC -
Clinical Anatomy (New York, N.Y.) Jul 2022To increase our understanding of the etiology of specific neurological disorders (e.g., Duane syndrome, glossoptosis in Pierre Robin sequence), proper knowledge of...
To increase our understanding of the etiology of specific neurological disorders (e.g., Duane syndrome, glossoptosis in Pierre Robin sequence), proper knowledge of anatomy and embryology of cranial nerves is necessary. We investigated cranial nerve development, studied histological sections of human embryos, and quantitatively analyzed the 3D reconstructions. A total of 28 sectioned and histologically stained human embryos (Carnegie stage [CS] 10 to 23 [21-60 days of development]) were completely digitalized by manual annotation using Amira software. Two specimens per stage were analyzed. Moreover, quantitative volume measurements were performed to assess relative growth of the cranial nerves. A chronologic overview of the morphologic development of each of the 12 cranial nerves, from neural tube to target organ, was provided. Most cranial nerves start developing at CS 12 to 13 (26-32 days of development) and will reach their target organ in stage 17 to 18 (41-46 days). In comparison to the rest of the developing brain, a trend could be identified in which relative growth of the cranial nerves increases at early stages, peaks at CS 17 and slowly decreases afterwards. The development of cranial nerves in human embryos is presented in a comprehensive 3D fashion. An interactive 3D-PDF is provided to illuminate the development of the cranial nerves in human embryos for educational purposes. This is the first time that volume measurements of cranial nerves in the human embryonic period have been presented.
Topics: Brain; Cranial Nerves; Embryo, Mammalian; Humans; Imaging, Three-Dimensional; Software
PubMed: 35445445
DOI: 10.1002/ca.23889 -
Plastic and Reconstructive Surgery.... Apr 2022The literature does not offer any review of the pathogenesis of the clinical features of syndromes with Pierre Robin sequence (PRS). The senior author (MMA) proposed a...
UNLABELLED
The literature does not offer any review of the pathogenesis of the clinical features of syndromes with Pierre Robin sequence (PRS). The senior author (MMA) proposed a hypothesis that SOX9 and its interactions may play a key role in this pathogenesis. The current review aims to test this hypothesis.
METHODS
Three literature searches were made: the first aimed to document the main syndromes associated with PRS; and the second was to document the main functions of SOX9 in development; and the third was to investigate if SOX9 and its interactions may play a role in the pathogenesis.
RESULTS
SOX9 is the main positive regulator in the development of the mandibular cartilage and it also enhances collagen type II (the main collagen type in cartilage) expression in the mandibular cartilage. Furthermore, SOX9 participates in neural crest development, binds to the exon junction complex, and participates in sex determination. The interactions of SOX9 could explain the pathogenesis of the clinical features of syndromic PRS. These included interactions with collagen type II (in Strickler syndrome), exon junction complex (in Richier-Costa-Periera syndrome), glucose (in Catel-Manzke syndrome), RNA-binding proteins (in TARP syndrome), and the spliceosome (in cerebra-costo-mandibular syndrome). Finally, SOX9 mutations cause campomelic dysplasia.
CONCLUSIONS
The review supports the hypothesis of the participation of SOX9 in the pathogenesis of the clinical features of syndromic and nonsyndromic PRS. This should guide future research on the topic.
PubMed: 35415063
DOI: 10.1097/GOX.0000000000004241 -
Journal of Clinical Sleep Medicine :... Jul 2022Craniofacial malformations with micrognathia cause high grades of obstructive sleep apnea (OSA) measured by polysomnography (PSG). Mandibular distraction osteogenesis is...
STUDY OBJECTIVES
Craniofacial malformations with micrognathia cause high grades of obstructive sleep apnea (OSA) measured by polysomnography (PSG). Mandibular distraction osteogenesis is a novel procedure for upper airway obstruction relief. Our primary objective was to describe the utilization of PSGs to improve obstruction in patients undergoing mandibular distraction.
METHODS
This is a retrospective study. Patients with micrognathia and severe upper airway obstruction, presenting with severe OSA diagnosed by PSG, were included from a single tertiary care center between 2015 and 2019. PSGs were done (1) prior to surgery, (2) once the cosmetic goal was achieved (Post-Op 1), and (3) if residual moderate-to-severe OSA was seen, every 2 nights until mild or no OSA was achieved (Post-Op 2).
RESULTS
Thirteen patients were included. The median age at surgery was 1.1 months (10 days-3 months). All 13 patients had baseline severe OSA, with a median obstructive apnea-hypopnea index of 33 events/h and a median O nadir of 73%. Post-Op 1 PSG was done at a median of 6 days after surgery. Median first postoperative obstructive apnea-hypopnea index in all 13 patients was 6.8 events/h, with a median O nadir of 87%. A median additional distraction of 3 mm was needed beyond the traditionally recommended advancement. Long-term follow-up studies at or after 1 year were done in 5 patients, all showing persistent nonsevere OSA.
CONCLUSIONS
This is the first case series utilizing PSGs as a guide for mandibular distraction osteogenesis in patients with micrognathia showing the need for jaw overcorrection to achieve resolution of OSA.
CITATION
Kochhar R, Modi V, de Silva N, et al. Polysomnography-guided mandibular distraction osteogenesis in Pierre Robin sequence patients. . 2022;18(7):1749-1755.
Topics: Airway Obstruction; Humans; Infant; Mandible; Micrognathism; Osteogenesis, Distraction; Pierre Robin Syndrome; Polysomnography; Retrospective Studies; Sleep Apnea, Obstructive; Treatment Outcome
PubMed: 35332870
DOI: 10.5664/jcsm.9960