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1.
Acta Med Philipp ; 58(3): 23-33, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38966839

RESUMO

Background: One of the early problems that children born with cleft lip and palate encounter is difficulty in feeding. This affects the child's nutritional needs and the timing of the surgical intervention. Information on the appropriate feeding methods for children with cleft lip and palate will enable mothers to feed their babies properly and facilitate the implementation of appropriate interventions. Objectives: The study described the feeding problems experienced by children with cleft lip and palate (CLP), and cleft palate (CP) ages 0-24 months, the feeding methods most preferred by Filipino mothers, the methods they found most useful, and the mothers' reactions to the feeding issues their children face. Methods: The research is a pilot study which used a quantitative, cross-sectional, descriptive mixed method design. Thirty-two (32) mothers of children with cleft lip and palate, and cleft palate answered an 11-item online survey and participated in focused interviews from January to June 2022. Inferential statistics was used specifically frequency distribution to describe the data, and Fishers' Exact Test and Pearson's Chi-Square Test were used to analyze the data quantitatively to determine the significant association between the variables identified. Results: Results showed that the feeding problems encountered by the children included nasal regurgitation, sucking, aspiration of liquids, latching on nipples, and swallowing. Mothers preferred to use regular feeding bottles (24.3%), specialized feeding bottles for children with cleft (21.6%), breast feeding and dropper (17.6%), syringe (9.5%), cup (6.8%), and spoon feeding (2.7%) methods. They also mentioned that they found the following feeding methods to be the most useful, regular feeding bottles (32.7%), specialized feeding bottles for cleft (23.1%), breast feeding (11.5%), spoon and dropper feeding (7.7%), and syringe feeding (1.9%). Conclusion: The feeding problems experienced by Filipino children with CLP and CP mirror those that have been reported in other studies. The study revealed that mothers still prefer to use the traditional regular feeding bottles in feeding their babies and found this to be the most useful. Maternal reactions of the participants to the cleft condition and its feeding issues are similar to reported studies in other countries. The internet has been the primary source of information on cleft and feeding of the participants in the study.

2.
Nagoya J Med Sci ; 86(2): 223-236, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38962411

RESUMO

Cleft palate is the most common facial birth defect worldwide. It is caused by environmental factors or genetic mutations. Environmental factors such as pharmaceutical exposure in women are known to induce cleft palate. The aim of the present study was to investigate the protective effect of Sasa veitchii extract against medicine-induced inhibition of proliferation of human embryonic palatal mesenchymal cells. We demonstrated that all-trans-retinoic acid inhibited human embryonic palatal mesenchymal cell proliferation in a dose-dependent manner, whereas dexamethasone treatment had no effect on cell proliferation. Cotreatment with Sasa veitchii extract repressed all-trans-retinoic acid-induced toxicity in human embryonic palatal mesenchymal cells. We found that cotreatment with Sasa veitchii extract protected all-trans-retinoic acid-induced cyclin D1 downregulation in human embryonic palatal mesenchymal cells. Furthermore, Sasa veitchii extract suppressed all-trans-retinoic acid-induced miR-4680-3p expression. Additionally, the expression levels of the genes that function downstream of the target genes ( ERBB2 and JADE1 ) of miR-4680-3p in signaling pathways were enhanced by cotreatment with Sasa veitchii extract and all-trans-retinoic acid compared to all-trans-retinoic acid treatment. These results suggest that Sasa veitchii extract suppresses all-trans-retinoic acid-induced inhibition of cell proliferation via modulation of miR-4680-3p expression.


Assuntos
Proliferação de Células , Fissura Palatina , Palato , Extratos Vegetais , Tretinoína , Humanos , Tretinoína/farmacologia , Proliferação de Células/efeitos dos fármacos , Palato/efeitos dos fármacos , Palato/embriologia , Palato/citologia , Extratos Vegetais/farmacologia , MicroRNAs/metabolismo , MicroRNAs/genética , MicroRNAs/efeitos dos fármacos , Ciclina D1/metabolismo , Ciclina D1/genética , Células Cultivadas , Células-Tronco Mesenquimais/efeitos dos fármacos , Células-Tronco Mesenquimais/metabolismo , Transdução de Sinais/efeitos dos fármacos
3.
Trials ; 25(1): 453, 2024 Jul 04.
Artigo em Inglês | MEDLINE | ID: mdl-38965585

RESUMO

BACKGROUND: Cleft lip and palate (CLP) are among the most common congenital anomaly that affects up to 33,000 newborns in India every year. Nasoalveolar moulding (NAM) is a non-surgical treatment performed between 0 and 6 months of age to reduce the cleft and improve nasal aesthetics prior to lip surgery. The NAM treatment has been a controversial treatment option with 51% of the cleft teams in Europe, 37% of teams in the USA and 25 of cleft teams in India adopting this methodology. This treatment adds to the already existing high burden of care for these patients. Furthermore, the supporting evidence for this technique is limited with no high-quality long-term clinical trials available on the effectiveness of this treatment. METHOD: The NAMUC study is an investigator-initiated, multi-centre, single-blinded randomized controlled trial with a parallel group design. The study will compare the effectiveness of NAM treatment provided prior to lip surgery against the no-treatment control group in 274 patients with non-syndromic unilateral complete cleft lip and palate. The primary endpoint of the trial is the nasolabial aesthetics measured using the Asher McDade index at 5 years of age. The secondary outcomes include dentofacial development, speech, hearing, cost-effectiveness, quality of life, patient perception, feeding and intangible benefits. Randomization will be carried out via central online system and stratified based on cleft width, birth weight and clinical trial site. DISCUSSION: We expect the results from this study on the effectiveness of treatment with NAM appliance in the long term along with the cost-effectiveness evaluation can eliminate the dilemma and differences in clinical care across the globe. TRIAL REGISTRATION: ClinicalTrials.gov CTRI/2022/11/047426 (Clinical Trials Registry India). Registered on 18 November 2022. The first patient was recruited on 11 December 2022. CTR India does not pick up on Google search with just the trial number. The following steps have to be carried out to pick up. How to search: ( https://ctri.nic.in/Clinicaltrials/advsearch.php -use the search boxes by entering the following details: Interventional trial > November 2022 > NAMUC).


Assuntos
Fenda Labial , Fissura Palatina , Estudos Multicêntricos como Assunto , Ensaios Clínicos Controlados Aleatórios como Assunto , Humanos , Fenda Labial/cirurgia , Fenda Labial/terapia , Fissura Palatina/cirurgia , Fissura Palatina/terapia , Lactente , Método Simples-Cego , Resultado do Tratamento , Recém-Nascido , Índia , Estética , Processo Alveolar/cirurgia , Feminino , Masculino , Nariz/anormalidades , Obturadores Palatinos
4.
Front Endocrinol (Lausanne) ; 15: 1413810, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38952395

RESUMO

Rathke's cleft cysts (RCC) are a common type of lesion found in the sellar or suprasellar area. They are usually monitored clinically, but in some cases, surgery may be required. However, their natural progression is not yet well understood, and the outcomes of surgery are uncertain. The objective of this study is to evaluate the natural history of Rathke's cleft cysts in patients who are clinically monitored without treatment, and to determine the outcomes of surgery and the incidence of recurrences over time. Design and patients: National multicentric study of patients diagnosed of Rathke's cleft cyst (RCC- Spain) from 2000 onwards and followed in 15 tertiary centers of Spain. A total of 177 patients diagnosed of RCC followed for 67.3 months (6-215) and 88 patients who underwent surgery, (81 patients underwent immediate surgery after diagnosis and 7 later for subsequent growth) followed for 68.8 months (3-235). Results: The cyst size remained stable or decreased in 73.5% (133) of the patients. Only 44 patients (24.3%) experienced a cyst increase and 9 of them (5.1%) experienced an increase greater than 3 mm. In most of the patients who underwent surgery headaches and visual alterations improved, recurrence was observed in 8 (9.1%) after a median time of 96 months, and no predictors of recurrence were discovered. Conclusions: Rathke's cleft cysts without initial compressive symptoms have a low probability of growth, so conservative management is recommended. Patients who undergo transsphenoidal surgery experience rapid clinical improvement, and recurrences are infrequent. However, they can occur after a long period of time, although no predictors of recurrence have been identified.


Assuntos
Cistos do Sistema Nervoso Central , Humanos , Cistos do Sistema Nervoso Central/cirurgia , Cistos do Sistema Nervoso Central/patologia , Feminino , Masculino , Espanha/epidemiologia , Adulto , Pessoa de Meia-Idade , Adulto Jovem , Adolescente , Resultado do Tratamento , Idoso , Neoplasias Hipofisárias/cirurgia , Neoplasias Hipofisárias/patologia , Progressão da Doença , Seguimentos , Recidiva Local de Neoplasia/cirurgia , Recidiva Local de Neoplasia/epidemiologia , Recidiva Local de Neoplasia/patologia , Criança
5.
Cureus ; 16(5): e61268, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38947637

RESUMO

Branchial cleft cysts are congenital anomalies that form during fetal development and originate from the second branchial cleft. They typically manifest as painless masses on the side of the neck and can become symptomatic when infected. These cysts can create a cavity that may foster infection and, in rare instances, facilitate the spread of primary tumors. It is unusual to find ectopic thyroid tissue within a brachial cyst and it is even rarer to see papillary thyroid carcinoma developing from this tissue. Whenever physicians find a case of lateral neck cyst containing thyroid neoplasm without a known primary in the thyroid, there is always a confusion about whether it is a case of metastatic disease with an undetected primary tumor, or is a carcinoma originating from ectopic thyroid tissue. This is a case report of a papillary thyroid cancer that was unintentionally discovered inside a branchial cyst. So far, only five cases akin to this have been documented. There was no sign of an underlying primary thyroid tumor after the patient had a complete thyroidectomy and selected neck dissection, according to a comprehensive evaluation. This article touches on the development of thyroid tissue within branchial cysts and discusses the etiology of lateral neck tumors. The outcome for such patients appears to be favorable after cyst excision and total thyroidectomy. This article also emphasizes the importance of doing routine histopathological examinations on surgically removed samples that look benign.

6.
World J Clin Pediatr ; 13(2): 90583, 2024 Jun 09.
Artigo em Inglês | MEDLINE | ID: mdl-38947997

RESUMO

Apart from listening to the cry of a healthy newborn, it is the declaration by the attending paediatrician in the labour room that the child is normal which brings utmost joy to parents. The global incidence of children born with congenital anomalies has been reported to be 3%-6% with more than 90% of these occurring in low- and middle-income group countries. The exact percentages/total numbers of children requiring surgical treatment cannot be estimated for several reasons. These children are operated under several surgical disciplines, viz, paediatric-, plastic reconstructive, neuro-, cardiothoracic-, orthopaedic surgery etc. These conditions may be life-threatening, e.g., trachea-oesophageal fistula, critical pulmonary stenosis, etc. and require immediate surgical intervention. Some, e.g., hydrocephalus, may need intervention as soon as the patient is fit for surgery. Some, e.g., patent ductus arteriosus need 'wait and watch' policy up to a certain age in the hope of spontaneous recovery. Another extremely important category is that of patients where the operative intervention is done based on their age. Almost all the congenital anomalies coming under care of a plastic surgeon are operated as elective surgery (many as multiple stages of correction) at appropriate ages. There are advantages and disadvantages of intervention at different ages. In this article, we present a review of optimal timings, along with reasoning, for surgery of many of the common congenital anomalies which are treated by plastic surgeons. Obstetricians, paediatricians and general practitioners/family physicians, who most often are the first ones to come across such children, must know to guide the parents appropriately and convincingly impress upon the them as to why their child should not be operated immediately and also the consequences of too soon or too late.

7.
Clin Oral Investig ; 28(7): 409, 2024 Jul 02.
Artigo em Inglês | MEDLINE | ID: mdl-38954126

RESUMO

OBJECTIVES: Orofacial clefts are complex congenital anomalies that call for comprehensive treatment based on a thorough assessment of the anatomy. This study aims to examine the effect of cleft type on craniofacial morphology using geometric morphometrics. MATERIALS AND METHODS: We evaluated lateral cephalograms of 75 patients with bilateral cleft lip and palate, 63 patients with unilateral cleft lip and palate, and 76 patients with isolated cleft palate. Generalized Procrustes analysis was performed on 16 hard tissue landmark coordinates. Shape variability was studied with principal component analysis. In a risk model approach, the first nine principal components (PC) were used to examine the effect of cleft type. RESULTS: We found statistically significant differences in the mean shape between cleft types. The difference is greatest between bilateral cleft lip and palate and isolated cleft palate (distance of means 0.026, P = 0.0011). Differences between cleft types are most pronounced for PC4 and PC5 (P = 0.0001), which together account for 10% of the total shape variation. PC4 and PC5 show shape differences in the ratio of the upper to the lower face, the posterior mandibular height, and the mandibular angle. CONCLUSIONS: Cleft type has a statistically significant but weak effect on craniofacial morphological variability in patients with non-syndromic orofacial clefts, mainly in the vertical dimension. CLINICAL RELEVANCE: Understanding the effects of clefts on craniofacial morphology is essential to providing patients with treatment tailored to their specific needs. This study contributes to the literature particularly due to our risk model approach in lieu of a prediction model.


Assuntos
Pontos de Referência Anatômicos , Cefalometria , Fenda Labial , Fissura Palatina , Humanos , Fissura Palatina/patologia , Fenda Labial/patologia , Masculino , Feminino , Adolescente , Criança , Análise de Componente Principal
8.
J Clin Sleep Med ; 2024 Jul 04.
Artigo em Inglês | MEDLINE | ID: mdl-38963072

RESUMO

STUDY OBJECTIVES: Severe respiratory distress of neonates with Robin sequence (RS) is traditionally managed by surgery. Stanford Orthodontic Airway Plate treatment (SOAP) is a nonsurgical option. The study aimed to determine if SOAP can improve polysomnography (PSG) parameters of neonates with RS. METHODS: PSG of neonates with RS treated with SOAP at a single hospital were retrospectively analyzed. Patients without PSG at all 4 time points (pre-, start of-, mid-, and post-treatment) were excluded. Data were analyzed using a linear mixed effects model. RESULTS: Sixteen patients were included. All patients had cleft palate (CP). The median age (min, max) at the start of treatment was 1.1 months (0.5, 2.3) with the treatment duration of 4.5 months (3.5, 6.0). The mean obstructive apnea-hypopnea index (95% confidence interval) decreased from 39.3 events/hour (32.9, 45.7) to 12.2 events/hour (6.7, 17.7) (P < 0.001), obstructive apnea index decreased from 14.1 (11.2, 17.0) events/hour to 1.0 (-1.5, 3.5) events/hour (P < 0.001), and oxygen nadir increased from 79.9% (77.4, 82.5) to 88.2% (85.5, 90.8) (P < 0.001) between pre- and start of treatment. Respiratory improvements were sustained during and after the treatment. All patients avoided mandibular distraction osteogenesis or tracheostomy following SOAP. CONCLUSIONS: As being a rare diagnosis, the number of participants was, as expected, low. However, the current study demonstrates that SOAP can improve PSG parameters, demonstrating its potential utility before surgical interventions for neonates with RS and CP experiencing severe respiratory distress.

9.
Artigo em Inglês | MEDLINE | ID: mdl-39003216

RESUMO

Large-volume autologous iliac cancellous bone grafting for alveolar cleft may lead to undesirable bone resorption and susceptible donor-site morbidity, whereas the addition of deproteinized bovine bone (DBB) could optimize outcomes. This study aimed to evaluate the effectiveness of combining autologous iliac bone with DBB using three-dimensional cone beam computed tomography (3D-CBCT) for better analysis of bone generation than conventional evaluation methods. Thirty-six patients with unilateral alveolar cleft were assigned into two groups. Group A (n = 21) underwent autogenous cancellous bone graft harvested from the anterior iliac crests, while Group B (n = 15) received a composite of autogenous iliac cancellous bone and DBB. Patients in Group B displayed higher bone filling rates (P < 0.0001) and lower bone absorption rates (P < 0.001) than those in Group A at both 6 months and 1 year postoperatively. Additionally, there were directional differences in bone absorption within the bone grafts, with more absorption observed on the alveolar crest and palatal sides than that on the nasal and labial sides (P < 0.001). This study demonstrates that employing a combination of DBB and autologous bone in alveolar cleft repair achieves better outcomes of bone grafting.

10.
Artigo em Inglês | MEDLINE | ID: mdl-39003217

RESUMO

PURPOSE: This preliminary study aimed to assess the efficacy of zygomatic buttress bone grafting for nasal floor augmentation in patients with a unilateral alveolar cleft who were referred after the optimal timetable for this surgery had elapsed. CASE SERIES: Five patients, aged 12-18 years, with unilateral alveolar clefts were treated at Qaem Hospital, Mashhad, Iran. Initially, a mucous layer was established on the side of the cleft nose, followed by forming a bony bridge between the defect's sides through a bone graft derived from the zygomatic buttress and xenograft bone powder. Subsequently, the grafted region was covered with an absorbable collagen membrane, and the oral-side flap was sealed. Post-operative follow-ups occurred at 1 week, 1 month, and 3 months, and cone beam computed tomography (CBCT) was performed 6 months post-treatment. Discrepancy between the anterior edge height of the pyriform aperture on the healthy and cleft sides post-grafting was assessed. The average disparity between the height of the anterior edge of the pyriform aperture on the healthy side and the peak height achieved post-grafting on the cleft side was 1.90 ± 2.82 mm. CONCLUSION: Within the limitations of the study, it seems that zygomatic buttress is applicable for late unilateral alveolar bone grafting as an intraoral source, and is helpful in symmetric bony nasal floor reconstruction, with a good success rate.

11.
Artigo em Inglês | MEDLINE | ID: mdl-39073435

RESUMO

INTRODUCTION: To date, recurrent neck abscesses associated with branchial anomalies are treated using a variety of techniques. Management strategies may include various imaging modalities and surgical methods. Endoscopic assessment and electrocauterization are the preferred diagnostic modalities and treatment strategies that have recently gained widespread acceptance and popularity. METHODOLOGY AND RESULTS: This was a retrospective review on patients' medical record from 2016 to 2023. Seven patients underwent endoscopic cauterization at our centre, a tertiary academic institution. Five of the patients (71.5%) achieved complete remission. Two patients experienced recurrence within 6 months that necessitated re-cauterization once but subsequently recovered completely. Currently, endoscopic management is the preferred approach compared to the typical open neck excision surgery as it is significantly less invasive, resulting in lesser morbidity and similar success rates. At presentation, all of them had ultrasound neck that suggestive of neck abscess. Computed tomography or magnetic resonance imaging unable to provide adequate information about the side of internal opening of fistula where only 3 out of 7 patients demonstrated tract up to the ipsilateral region of pyriform fossa. DISCUSSION: Management outcomes of this limited case series showed the potential benefits of endoscopic cauterization as the minimally invasive therapeutic method for recurrent neck abscesses caused by third and fourth branchial cleft fistulas but also to suggest the possibility as the first diagnostic tool prior to imaging studies.

12.
Clin Oral Investig ; 28(8): 449, 2024 Jul 26.
Artigo em Inglês | MEDLINE | ID: mdl-39060480

RESUMO

OBJECTIVE: The aim of the present study was to objectively assess the degree of residual facial asymmetry after primary treatment of non-syndromic unilateral cleft lip and palate (UCLP) in children and to correlate it with subjective ratings of facial appearance. MATERIALS AND METHODS: Stereophotometry was used to record the faces of 89 children with UCLP for comparison of cleft and non-cleft sides up to 5 years after primary cleft closure. Root mean square values were calculated to measure the difference between the shape of cleft and non-cleft sides of the face and were compared to controls without a cleft lip. The Asher-McDade Aesthetic Index (AMAI) was used for subjective rating of the nasolabial area through 12 laypersons. RESULTS: Children with a cleft lip (CL) showed no significant difference in RMS values compared to controls. Significant differences occurred when the evaluation was limited to the nasolabial area, however only in patients with cleft lip alveolus (CLA) and cleft lip palate (CLAP)(p < 0.001). In contrast, subjective ratings showed significantly higher values for all three cleft severity groups (CL, CLA, CLAP) compared to controls (p < 0.001). There was a non-linear correlation between the RMS (root mean square) values and the AMAI score. CONCLUSIONS: Even non-significant discrete objective deviations from facial symmetry in children after primary closure of UCLP are vigilantly registered in subjective ratings and implemented in the judgement of facial appearance. CLINICAL RELEVANCE: 3D stereophotometry is a usefull tool in monitoring asymmetry in patients with a cleft.


Assuntos
Fenda Labial , Fissura Palatina , Assimetria Facial , Humanos , Fenda Labial/cirurgia , Fissura Palatina/cirurgia , Feminino , Masculino , Criança , Estética , Pré-Escolar , Fotogrametria
13.
J Multidiscip Healthc ; 17: 3589-3603, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39070687

RESUMO

Objective: In the USA, the American Cleft Palate Association-Craniofacial Association (ACPA-CPF) specifies guidelines to ensure craniofacial teams function in a multidisciplinary fashion to provide care in a sequence that mirrors the patient's needs. Among these guidelines is the expectation that teams hold regular multidisciplinary team meetings to discuss patient care. The purpose of this study was to identify factors that contribute to optimal team functioning during these meetings. The impact of the virtual format on meetings was also evaluated. Design: One-hour semi-structured interviews of craniofacial team members, queried on current and ideal team meetings, were conducted from December 2020 - January 2021. Interviews were recorded, transcribed, and coded to identify common themes until thematic saturation was achieved. Setting/Participants: Sixteen team members from three major American craniofacial centers were interviewed virtually. Results: Three major categories were identified as integral to successful meetings: (1) meeting content, (2) meeting processes, and (3) team dynamics. Within these categories are several factors that participants reported as important to optimize their multidisciplinary meetings: key content for discussions, integration of patient perspective, recognition of collaboration in determining proper sequence of treatments, an attentive discussion leader promoting equitable discussions, managing absences, and team diversity. Participants also identified benefits and pitfalls of hosting meetings in the virtual setting, including lack of engagement and awkward communication. Conclusion: Diverse groups of disciplines are expected to come together during craniofacial multidisciplinary meetings to formulate intricate care plans for complex patients. In this study, craniofacial team members have identified several key factors to optimize these meetings. The research group used these factors to propose a self-evaluation instrument for meeting quality improvement, provided in printable format. Further studies should evaluate how implementation of these factors affects meetings and ultimately guides patient care.

14.
World J Clin Cases ; 12(21): 4609-4617, 2024 Jul 26.
Artigo em Inglês | MEDLINE | ID: mdl-39070819

RESUMO

BACKGROUND: Osteoporotic vertebral compression fractures (OVCFs) contribute to back pain and functional limitations in older individuals, with percutaneous vertebroplasty (PVP) emerging as a minimally invasive treatment. However, further height loss post-PVP prompts investigation into contributing factors. AIM: To investigate the factors associated with further height loss following PVP with cement augmentation in OVCF patients. METHODS: A total of 200 OVCF patients who underwent successful PVP between January 2021 and December 2022 were included in this study. "Further height loss" during 1 year of follow-up in OVCF patients with bone edema was defined as a vertical height loss of ≥ 4 mm. The study population was divided into two groups for analysis: The "No Further Height Loss group (n = 179)" and the "Further Height Loss group (n = 21)." RESULTS: In comparing two distinct groups of patients, significant differences existed in bone mineral density (BMD), vertebral compression degree, prevalence of intravertebral cleft (IVF), type of bone cement used, and cement distribution patterns. Results from binary univariate regression analysis revealed that lower BMD, the presence of IVF, cleft distribution of bone cement, and higher vertebral compression degree were all significantly associated with further height loss. Notably, the use of mineralized collagen modified-poly(methyl methacrylate) bone cement was associated with a significant reduction in the risk of further height loss. In multivariate regression analysis, lower BMD and the presence of IVF remained significantly associated with further height loss. CONCLUSION: Further height loss following PVP in OVCF patients is influenced by a complex interplay of factors, especially lower BMD and the presence of IVF. These findings underscore the importance of assessing and managing these factors when addressing height loss following PVP in OVCF patients.

15.
Med J Armed Forces India ; 80(4): 488-491, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39071755

RESUMO

Pre-nasoalveolar molding (PNAM) was developed to reduce the severity of the initial cleft alveolar and nasal deformity. The nasoalveolar moulding appliance (NAM) consists of an intraoral moulding plate with nasal stents to mould the alveolar ridge and nasal cartilage concurrently. Use of the NAM technique also reduces surgical columella reconstruction and the resultant scar tissue in bilateral cleft lip and palate. The nasoalveolar moulding technique has been shown to significantly improve the surgical outcome of the primary repair in cleft lip and palate patients compared to other techniques of presurgical orthopaedics. But the adaptability of nasal stent with support from NAM plate is cumbersome for many cleft patients due to its bulkiness, interfere with feeding and difficult for parents to manage at home. The Modified Indigenous Nasal Elevator (MINE) is a novel innovation for nasal correction for cleft lip and palate patients. This innovative design, non-invasive, precision, fewer visits, cost effective and adaptability make it a valuable tool to help surgeons to achieve optimal correction in lip repair surgeries in cleft lip & palate patients. MINE's innovative design allows for customization based on the patient's specific nasal anatomy. This adaptable feature ensures optimal fit and function for each patient, maximizing the surgical outcomes.

16.
Diagnostics (Basel) ; 14(14)2024 Jul 17.
Artigo em Inglês | MEDLINE | ID: mdl-39061674

RESUMO

Non-syndromic orofacial cleft (OFC) is the most common facial developmental defect in the global population. The etiology of these birth defects is complex and multifactorial, involving both genetic and environmental factors. This study aimed to determine if SNPs in the WNT gene family (rs1533767, rs708111, rs3809857, rs7207916, rs12452064) are associated with OFCs in a Polish population. The study included 627 individuals: 209 children with OFCs and 418 healthy controls. DNA was extracted from saliva for the study group and from umbilical cord blood for the control group. Polymorphism genotyping was conducted using quantitative PCR. No statistically significant association was found between four variants and clefts, with odds ratios for rs708111 being 1.13 (CC genotype) and 0.99 (CT genotype), for rs3809857 being 1.05 (GT genotype) and 0.95 (TT genotype), for rs7207916 being 0.86 (AA genotype) and 1.29 (AG genotype) and for rs12452064 being 0.97 (AA genotype) and 1.24 (AG genotype). However, the rs1533767 polymorphism in WNT showed a statistically significant increase in OFC risk for the GG genotype (OR = 1.76, p < 0.001). This research shows that the rs1533767 polymorphism in the WNT gene is an important risk marker for OFC in the Polish population.

17.
Children (Basel) ; 11(7)2024 Jul 04.
Artigo em Inglês | MEDLINE | ID: mdl-39062268

RESUMO

BACKGROUND/OBJECTIVES: Orofacial clefts (OFCs) are some of the most common congenital anomalies worldwide. The aim of this case-control study was to evaluate the association of OFCs with selected maternal characteristics. METHODS: Data on isolated non-syndromic cases of OFCs were extracted from the population-based registry of congenital anomalies of Tuscany. A sample of live-born infants without any congenital anomaly was used as the control group. We investigated the association with sex and some maternal characteristics: age, body mass index, smoking, and education. Adjusted odds ratios (OR) were calculated using a logistic regression model. Analyses were performed for the total OFCs and separately for cleft lip (CL) and cleft palate (CP). RESULTS: Data on 219 cases and 37,988 controls were analyzed. A higher proportion of males (57.9%) was observed, particularly for CL. A decreasing trend among the maternal age classes was observed (OR:0.81 (95%CI 0.70-0.94)). Underweight mothers had a higher prevalence of OFCs, in particular for CL (OR:1.88 (95%CI 1.08-3.26)). CONCLUSIONS: We found an association of OFCs with lower maternal age. The association with maternal age remains controversial and further epidemiological evidence is needed through multicenter studies. We observed that CL was more common in underweight mothers, suggesting actions of primary prevention.

18.
Children (Basel) ; 11(7)2024 Jul 06.
Artigo em Inglês | MEDLINE | ID: mdl-39062276

RESUMO

Cleft lip and palate (CL/P) are a common congenital craniofacial anomaly requiring precise impressions for effective treatment. Conventional impressions (CIs) pose challenges in neonates with CL/P due to their delicate oral anatomy. While digital impressions (DIs) are increasingly recognised for their potential benefits over conventional methods in dentistry, their accuracy and application in neonates with cleft lip and palate (CL/P) remain underexplored. This study aimed to assess the accuracy of DIs compared to CIs in neonates with CL/P, using alginate and putty materials as references. A laboratory-based case-control study was conducted, utilising soft acrylic models resembling neonatal mouths with CL/P. Alginate and putty impressions were obtained conventionally, while digital impressions were captured using an intraoral scanner (IOS). A total of 42 models were analysed, divided evenly into three groups, with each group comprising 14 models. Superimposition and surface discrepancy analyses were performed to evaluate impression accuracy. The results revealed no statistically significant differences between the digital and conventional impressions in their intra-arch measurements and surface discrepancies. The mean measurement values did not significantly differ among groups, with p values indicating no significant variations (p > 0.05), confirmed by an analysis of variance. High intra-examiner reliability with Intra Class Coefficient (ICC) values close to 1 indicated consistent measurements over time. The current study demonstrates that DIs are equally accurate as conventional alginate and putty impressions in neonates with cleft lip and palate, offering a viable and less invasive alternative for clinical practise. This advancement holds promise for improving the treatment planning process and enhancing patient comfort, particularly in vulnerable neonatal populations. Further research is warranted to explore the clinical implications and factors affecting DI accuracy in this population.

19.
Children (Basel) ; 11(7)2024 Jul 05.
Artigo em Inglês | MEDLINE | ID: mdl-39062273

RESUMO

OBJECTIVES: This investigation aimed to assess the optimal timing for lip repair in children with cleft lip and palate via 3D anthropometric analysis to evaluate their maxillofacial structures. METHODS: The sample comprised 252 digitized dental models, divided into groups according to the following timing of lip repair: G1 (n = 50): 3 months; G2 (n = 50): 5 and 6 months; G3 (n = 26): 8 and 10 months. Models were evaluated at two-time points: T1: before lip repair; T2: at 5 years of age. Linear measurements, area, and Atack index were analyzed. RESULTS: At T1, the intergroup analysis revealed that G1 had statistically significant lower means of I-C', I-C, C-C', and the sum of the segment areas compared to G2 (p = 0.0140, p = 0.0082, p = 0.0004, p < 0.0001, respectively). In addition, there was a statistically significant difference when comparing the cleft area between G2 and G3 (p = 0.0346). At T2, the intergroup analysis revealed that G1 presented a statistically significant mean I-C' compared to G3 (p = 0.0461). In the I-CC' length analysis, G1 and G3 showed higher means when compared to G2 (p = 0.0039). The I-T' measurement was statistically higher in G1 than in G2 (p = 0.0251). In the intergroup growth rate analysis, G1 and G2 showed statistically significant differences in the I-C' measurement compared to G3 (p = 0.0003). In the analysis of the Atack index, there was a statistically significant difference between G1 and the other sample sets (p < 0.0001). CONCLUSION: Children who underwent surgery later showed better results in terms of the growth and development of the dental arches.

20.
Genes (Basel) ; 15(7)2024 Jul 12.
Artigo em Inglês | MEDLINE | ID: mdl-39062689

RESUMO

Structural variation is a source of genetic variation that, in some cases, may trigger pathogenicity. Here, we describe two cases, a mother and son, with the same partial inverted duplication of the long arm of chromosome 8 [invdup(8)(q24.21q24.21)] of 17.18 Mb, showing different clinical manifestations: microcephaly, dorsal hypertrichosis, seizures and neuropsychomotor development delay in the child, and a cleft lip/palate, down-slanted palpebral fissures and learning disabilities in the mother. The deleterious outcome, in general, is reflected by the gain or loss of genetic material. However, discrepancies among the clinical manifestations raise some concerns about the genomic configuration within the chromosome and other genetic modifiers. With that in mind, we also performed a literature review of research published in the last 20 years about the duplication of the same, or close, chromosome region, seeking the elucidation of at least some relevant clinical features.


Assuntos
Cromossomos Humanos Par 8 , Humanos , Feminino , Masculino , Cromossomos Humanos Par 8/genética , Adulto , Inversão Cromossômica/genética , Microcefalia/genética , Microcefalia/patologia , Duplicação Cromossômica/genética , Criança , Pré-Escolar
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