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Clinics in Plastic Surgery Jul 2021Pierre Robin sequence is defined by the clinical triad: mandibular hypoplasia, glossoptosis, and airway obstruction. Mandibular distraction osteogenesis (MDO) is a... (Review)
Review
Pierre Robin sequence is defined by the clinical triad: mandibular hypoplasia, glossoptosis, and airway obstruction. Mandibular distraction osteogenesis (MDO) is a standard treatment of Robin sequence associated with severe airway obstruction and is the only intervention that directly corrects the underlying anatomic pathologic condition. Compared with tongue-lip adhesion, MDO has demonstrated more success in treating airway obstruction in infants with Pierre Robin sequence, including patients with syndromic diagnoses and concomitant anomalies. This article provides a current, comprehensive review of neonatal mandibular distraction and offers treatment guidelines based on a combined surgical experience of more than 400 patients.
Topics: Airway Obstruction; Humans; Infant, Newborn; Mandible; Orthognathic Surgical Procedures; Osteogenesis, Distraction; Pierre Robin Syndrome; Postoperative Complications; Treatment Outcome
PubMed: 34051891
DOI: 10.1016/j.cps.2021.03.005 -
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 -
Pediatric Neurology Apr 2023The Pierre Robin Sequence presents heterogeneous symptoms, and each newborn can manifest from mild breathing and feeding difficulties to severe complications, as well as...
BACKGROUND
The Pierre Robin Sequence presents heterogeneous symptoms, and each newborn can manifest from mild breathing and feeding difficulties to severe complications, as well as a predisposition to present changes in growth and neuropsychomotor development in the first years of life.
OBJECTIVE
The aims were to evaluate and associate the neuropsychomotor development of zero- to 12-month-old children with Pierre Robin sequence (PRS) in the personal-social, fine motor-adaptive, language, and gross motor aspects.
METHODS
The subjects of the study were 17 infants of both sexes with PRS admitted to the special care unit (SCU) of a reference hospital in the interior of the state of São Paulo, Brazil, in the age range of 20 days to 263 days. Developmental assessments were performed using the Denver Development Screening Test II. The evaluations were carried out in the SCU, with duration of 30 minutes each. Statistical analysis was descriptive using the Mann-Whitney test, two-proportion equality test, and Spearman correlation. The level of significance was set at 0.05.
RESULTS
According to Denver Development Screening Test II, median 78.5 of the babies were at risk for developmental delay identified by the Denver II Test (n = 14, 82.4%). For the developmental areas analyzed by the test there was statistically significant difference in language area.
CONCLUSION
The babies aged up to 12 months with PRS in this study presented risks for delay in neuropsychomotor development in language, gross motor, fine motor-adaptive, and personal-social aspects, and this finding should be considered to set goals in family orientation and intervention.
Topics: Infant; Infant, Newborn; Male; Child; Female; Humans; Aged; Pierre Robin Syndrome; Brazil; Language; Retrospective Studies
PubMed: 36774683
DOI: 10.1016/j.pediatrneurol.2023.01.010 -
American Journal of Medical Genetics.... Sep 2023Pierre Robin sequence (PRS) is frequently co-occurring with other non-PRS congenital anomalies. The types and the prevalence of anomalies co-occurring with PRS vary in...
Pierre Robin sequence (PRS) is frequently co-occurring with other non-PRS congenital anomalies. The types and the prevalence of anomalies co-occurring with PRS vary in the reported studies. The aims of this report was to study the types and the prevalence of the anomalies co-occurring with PRS in a well-studied population northeastern France. The types and the prevalence of anomalies co-occurring in cases with PRS were ascertained in all terminations of pregnancy, stillbirths and live births in 387,067 births occurring consecutively during the period 1979-2007 in the area covered by our registry of congenital anomalies which is population-based, 89 cases of PRS were registered during the study period with a prevalence of 2.29 per 10,000 births, 69.7% of the cases had associated non-PRS anomalies. Chromosomal abnormalities were present in 10 (11.2%) cases including three 22 q11.2 deletion. Non-chromosomal recognizable conditions were diagnosed in 27 cases (30.3%) including 10 Stickler syndrome, 8 Treacher Collins syndrome, 3 cases with short stature and 6 other syndromes. Multiple congenital anomalies (MCA) were present in 25 cases (28.1%). The most frequent MCA were in the ear, face and neck (35 out of 98 anomalies, 35.7%), cardiovascular (18 anomalies, 18.4%), musculoskeletal (11 anomalies, 11.2%), central nervous (7 anomalies, 7.1%), urinary (6 anomalies, 6.1%), and eye (6 anomalies, 6.1%) system. The high prevalence of associated anomalies justifies a thorough screening for other congenital anomalies in cases with PRS.
Topics: Pregnancy; Female; Humans; Pierre Robin Syndrome; Abnormalities, Multiple; Chromosome Aberrations; Connective Tissue Diseases; France
PubMed: 37477275
DOI: 10.1002/ajmg.a.63344 -
Pediatric Pulmonology Aug 2022Robin sequence is characterized by mandibular retrognathia, airway obstruction, and glossoptosis; 80%-90% also have a cleft palate. Various treatment approaches exist,...
Robin sequence is characterized by mandibular retrognathia, airway obstruction, and glossoptosis; 80%-90% also have a cleft palate. Various treatment approaches exist, and although controlled studies are rare, objective assessment of treatment outcomes that address the leading clinical issues, namely obstructive sleep apnea and failure to thrive, are essential. Sleep-disordered breathing may be detected using cardiorespiratory polygraphy or polysomnography. Pulse oximetry alone may miss infants with frequent obstructive apneas, yet no intermittent hypoxia. Among conservative treatment options, the Tubingen Palatal Plate with a velar extension shifting the tongue base forward is the only approach that corrects the underlying anatomy and that has undergone appropriate evaluation. Of the surgical treatment options, which are not necessarily the first line of therapy, mandibular distraction osteogenesis (MDO) is effective and has been most extensively adopted. Notwithstanding, it is puzzling that MDO is frequently used in some countries, yet hardly ever in others, despite similar tracheostomy rates. Thus, prospective multicenter studies with side-by-side comparisons aimed at identifying an optimal treatment paradigm for this potentially life-threatening condition are urgently needed.
Topics: Airway Obstruction; Humans; Infant; Osteogenesis, Distraction; Pierre Robin Syndrome; Polysomnography; Prospective Studies; Retrospective Studies; Sleep Apnea Syndromes; Sleep Apnea, Obstructive; Treatment Outcome
PubMed: 33580741
DOI: 10.1002/ppul.25317 -
Polymers Sep 2022This paper introduces a complex novel concept and methodology for the creation of personalized biomedical appliances 3D-printed from certified biocompatible photopolymer...
This paper introduces a complex novel concept and methodology for the creation of personalized biomedical appliances 3D-printed from certified biocompatible photopolymer resin Dental LT Clear (V2). The explained workflow includes intraoral and CT scanning, patient virtualization, digital appliance design, additive manufacturing, and clinical application with evaluation of the appliance intended for patients with cranio-facial syndromes. The presented concept defines virtual 3D fusion of intraoral optical scan and segmented CT as sufficient and accurate data defining the 3D surface of the face, intraoral and airway morphology necessary for the 3D design of complex personalized intraoral and extraoral parts of the orthopedic appliance. A central aspect of the concept is a feasible utilization of composite resin for biomedical prototyping of the sequence of marginally different appliances necessary to keep the pace with the patient rapid growth. Affordability, noninvasiveness, and practicality of the appliance update process shall be highlighted. The methodology is demonstrated on a particular case of two-year-old infant with Pierre Robin sequence. Materialization by additive manufacturing of this photopolymer provides a highly durable and resistant-to-fracture two-part appliance similar to a Tübingen palatal plate, for example. The paper concludes with the viability of the described method and material upon interdisciplinary clinical evaluation of experts from departments of orthodontics and cleft anomalies, pediatric pneumology and phthisiology, and pediatric otorhinolaryngology.
PubMed: 36146014
DOI: 10.3390/polym14183858 -
Precise modulation of transcription factor levels identifies features underlying dosage sensitivity.Nature Genetics May 2023Transcriptional regulation exhibits extensive robustness, but human genetics indicates sensitivity to transcription factor (TF) dosage. Reconciling such observations...
Transcriptional regulation exhibits extensive robustness, but human genetics indicates sensitivity to transcription factor (TF) dosage. Reconciling such observations requires quantitative studies of TF dosage effects at trait-relevant ranges, largely lacking so far. TFs play central roles in both normal-range and disease-associated variation in craniofacial morphology; we therefore developed an approach to precisely modulate TF levels in human facial progenitor cells and applied it to SOX9, a TF associated with craniofacial variation and disease (Pierre Robin sequence (PRS)). Most SOX9-dependent regulatory elements (REs) are buffered against small decreases in SOX9 dosage, but REs directly and primarily regulated by SOX9 show heightened sensitivity to SOX9 dosage; these RE responses partially predict gene expression responses. Sensitive REs and genes preferentially affect functional chondrogenesis and PRS-like craniofacial shape variation. We propose that such REs and genes underlie the sensitivity of specific phenotypes to TF dosage, while buffering of other genes leads to robust, nonlinear dosage-to-phenotype relationships.
Topics: Humans; SOX9 Transcription Factor; Pierre Robin Syndrome; Gene Expression Regulation; Regulatory Sequences, Nucleic Acid; Phenotype
PubMed: 37024583
DOI: 10.1038/s41588-023-01366-2 -
The Cleft Palate-craniofacial Journal :... Nov 2023To characterize the prevalence and presentation of laryngomalacia and efficacy of supraglottoplasty (SGP) in a cohort of patients with Pierre Robin Sequence (PRS).
OBJECTIVE
To characterize the prevalence and presentation of laryngomalacia and efficacy of supraglottoplasty (SGP) in a cohort of patients with Pierre Robin Sequence (PRS).
DESIGN
Retrospective cohort study.
SETTING
Tertiary-care children's hospital.
PATIENTS, PARTICIPANTS
Consecutive patients with PRS born between January 2010 and June 2018.
MAIN OUTCOME MEASURES
Chart review included demographics, comorbid airway obstruction including laryngomalacia, timing of surgical interventions, clinical symptoms, sleep study data, and modified barium swallow study data.
UNLABELLED
126 patients with PRS were included; 54% had an associated syndrome, 64% had an overt cleft palate, and 22% had a submucous cleft palate. 64/126 were noted to have laryngomalacia (51%). Patients with concurrent PRS and laryngomalacia were significantly more likely to have submucous cleft palate ( = .005) and present with aspiration with cough ( = .01) compared to patients with PRS without laryngomalacia. Patients with concurrent laryngomalacia and PRS showed a significant decrease in apnea-hypopnea index (AHI) and obstructive AHI (OAHI) after mandibular distraction, with a median AHI and OAHI improvement of 22.3 ( = .001) and 19.8 ( = .002), respectively. Patients who underwent only SGP did not show significant improvement in these parameters ( = .112 for AHI, = .064 for OAHI).
UNLABELLED
The prevalence of laryngomalacia in our PRS cohort was 51%. Patients with PRS and laryngomalacia are more likely to present with overt aspiration compared to patients with PRS without laryngomalacia. These data support that laryngomalacia does not appear to be a contraindication to pursuing MDO.
Topics: Child; Humans; Infant; Retrospective Studies; Laryngomalacia; Pierre Robin Syndrome; Prevalence; Cleft Palate; Airway Obstruction; Osteogenesis, Distraction; Treatment Outcome
PubMed: 35668613
DOI: 10.1177/10556656221107298 -
Molecular Syndromology Apr 2021Pierre Robin syndrome/sequence (PRS) is associated with a triad of symptoms that includes micrognathia, cleft palate, and glossoptosis that may lead to respiratory... (Review)
Review
Pierre Robin syndrome/sequence (PRS) is associated with a triad of symptoms that includes micrognathia, cleft palate, and glossoptosis that may lead to respiratory obstruction. The syndrome occurs in 2 forms: nonsyndromic PRS (nsPRS), and PRS associated with other syndromes (sPRS). Studies have shown varying genetic mutations associated with both nsPRS and sPRS. The present systematic review aims to provide a comprehensive collection of published literature reporting genetic mutations in PRS. Web of Science, PubMed, and Scopus were searched using the keywords: "Pierre Robin syndrome/sequence AND gene mutation." The search resulted in 208 articles, of which 93 were excluded as they were duplicates/irrelevant. The full-text assessment led to the further exclusion of 76 articles. From the remaining 39 articles included in the review, details of 324 cases were extracted. 56% of the cases were sPRS, and 22% of the cases were associated with other malformations and the remaining were nsPRS. Genetic mutations were noted in 30.9% of the 300 cases. Based on the review, was found to be the most common gene associated with both nsPRS and sPRS. The gene mutation in sPRS was specific to the associated syndrome. Due to the lack of original studies, a quantitative analysis was not possible. Thus, future studies must focus on conducting large-scale cohort studies. Along with generating data on genetic mutation, future studies must also conduct pedigree analysis to assess potential familial inheritance, which in turn could provide valuable insights into the etiopathogenesis of PRS.
PubMed: 34012376
DOI: 10.1159/000513217