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Objective: To assess the aesthetics of the nasolabial appearance of patients with cleft lip and palate aged 8-12 years by experienced and inexperienced professionals. Methods: A cross-sectional study was conducted on 32 patients with cleft lip and palate, who underwent surgery and follow-up treatment at the Cleft Center. The research tools included a parent-completed survey providing GO graphic data and two-dimensional frontal view photographs of patients from both left and right sides. The aesthetic of the lip, nose, and nasolabial region was evaluated by an experienced and inexperienced medical professional team in groups of four individuals. In addition, data analysis was performed using descriptive statistics, mean values, standard deviations, Cronbach's alpha reliability coefficient, and the Wilcoxon signed-rank test. Results: The average age of patients was 10.32 years, mainly male (65.63%), had unilateral cleft lip and palate (62.50%), and underwent bone grafting (96.88%). Regarding the assessment in three aspects, the aesthetic score assessed by experienced evaluators is fair level (2.64 ± 1.09) with an acceptable value of 0.73. In contrast, the inexperienced evaluator showed a high level (2.43 ± 0.83) with a high inter-rater reliability acceptable value of 0.60. Inexperienced evaluators showed higher scores for the lip and nasolabial region than experienced evaluators, which was statistically significant (p-values < 0.01). Conclusions: The inexperienced evaluators showed significantly higher scores for appearance than experienced evaluators. This result can improve surgical techniques in future procedures to meet the needs of patients seeking lip and nasolabial appearance corrections across different age groups.
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INTRODUCTION: The objectives of this study were to obtain the birth prevalence of cleft lips and/or cleft palates (CL±P) and to identify potential associated risk factors in the population of the Northeast (NE) region of Thailand. METHODS: The data were collected from October 1, 2012, to September 30, 2013, for infant deliveries with nonsyndromic CL±P in all hospitals of 4 provinces in the region. Workshops were conducted to establish diagnostic criteria, treatment guidelines, referral systems, data collection, and data reporting. All patients included in this study, including a case (the child born with cleft lip and palate [CLP]) and 2 control cases (2 following children born without CLP in the same hospital), completed a questionnaire regarding demographics, cleft characteristics, and factors of interest such as alcohol intake, smoking, vitamin use, and medication. Unadjusted and adjusted odds ratio were presented for the magnitude of associations between proposed risk factors and CL±P along with 95% CIs. RESULTS: The overall birth prevalence of CL±P was 1.93 per 1000 live births. There was a significant difference in percentages of infants with low birth weights (P = .03), family history of CL±P (P = .01) in cases than controls. Mothers who took self-medication or a menstrual regulation supplement were more likely to have the child with CL±P (P = .01 adjusted). CONCLUSIONS: The prevalence of CL±P in the NE Thailand was high. Low infant birth weight, family history of CL±P, and the use of self-medication or menstrual regulation herbal supplement was significant factors.
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Labio Leporino , Fisura del Paladar , Niño , Labio Leporino/epidemiología , Fisura del Paladar/epidemiología , Femenino , Humanos , Lactante , Prevalencia , Factores de Riesgo , Tailandia/epidemiologíaRESUMEN
OBJECTIVE: Post-surgical hypertrophic scar is more frequently reported in Asians. Many modalities can treat scars but there have not been any publications to define the efficacy of silicone gel plus herbal extracts for scar prevention or amelioration. DESIGN: 48 patients, who underwent median sternotomy were randomized and double-blinded to 2 groups to use topical silicone gel plus herbal extract gel or placebo for 6 months. Patients were treated either with topical silicone gel plus herbal extract gel or control using only placebo for 6 months. The scars were observed by experienced plastic surgeons using the Vancouver scar scale. SETTING: A single tertiary care center at Khon Kaen University. PATICIPANTS: 48 patients who underwent median sternotomy were enrolled in this study. All patients were aged over 18 years. All the wounds were sutured with polyglycolic 4/0 subcuticular suture material and did not receive other scar management before participating in this study. INTERVENTION: The silicone gel plus herbal extract gel (Bangkok Botanica, Bangkok, Thailand) in semi-liquid form was formulated from 15% Herbal extract (Allium Cepa extract, Centella Asiatica extract, Aloe Vera extract and Paper Mulberry extract), 50% polydemethysiloxane, 30% cyclopentasiloxane and 5% silica. The placebo gel was a composite of water, acrylate, C10-30 alkyl acrylate cross-polymer, polysorbate 20 and fragrance that was similar in color and consistency as that of the active gel and packed in the similar sealed packages. MAIN OUTCOME MEASURES: The scar was assessed using the Vancouver scar scale to determine pigmentation, vascularity, pliability and height. RESULTS: the study showed the silicone gel plus herbal extract gel could improve scar amelioration in height (p = 0.005) and pliability (p < 0.001) when compared to the placebo. The vascularity and pigmentation showed improvement using silicone gel plus herbal extracts but the improvement was not statistically significant. CONCLUSION: The silicone gel plus herbal extracts gel was effective for scar improvement in median sternotomy wounds.
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OBJECTIVE: Silicone gel has been shown effective in improving healing post-sternotomy scars. It remains to be determined whether adding herbal extracts to the gel would augment the healing effect. METHOD: After median sternotomy, patients were randomised into two groups. Group 1: topical silicone gel plus herbal extract gel (Allium cepa, Centella Asiatica, Aloe vera and Paper Mulberry) and Group 2: silicone gel. Patients were treated for six months. The postoperative scars were assessed at three and six months by plastic surgeons using the Vancouver Scar Scale (VSS) and the patient assessment scar scale. RESULTS: Each group comprised 23 patients (n=46 in total). The VSS was significantly lower in Group 1 than in Group 2 (p=0.018 and p=0.051, respectively). In Group 1, the four differences from baseline were vascularity scores at three and six months (-0.391, p=0.025; -0.435, p=0.013, respectively), and pigmentation scores at three and six months (-0.391, p=0.019; -0.609, p=0.000, respectively). In Group 2, differences from baseline were the pigmentation and vascularity score at six months (-0.6609, p=0.000; -0.348, p=0.046, respectively). CONCLUSION: Our results suggest, post-sternotomy scars trend to have better vascularity and pigmentation when treated with silicone gel plus herbal extracts.
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Cicatriz Hipertrófica/tratamiento farmacológico , Geles de Silicona/administración & dosificación , Esternotomía , Método Doble Ciego , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Resultado del Tratamiento , Cicatrización de HeridasRESUMEN
OBJECTIVE: To evaluate the aesthetic outcomes of surgery in preschool-aged bilateral complete cleft lip patients by comparing their nasal aesthetic parameters with those of normal children. SETTING AND SAMPLE POPULATION: Twenty-six 4 to 6-year-old (preschool age) patients with bilateral complete cleft lip who underwent primary cheiloplasty and a control group of 30 children in Northeast Thailand of the same age were enrolled. MATERIALS AND METHODS: Nasal aesthetic parameters were analyzed in terms of 3 ratios and 1 angle using three-dimensional photographs. The data from bilateral cleft lip patients were compared with those from a control group. RESULTS: The nasal parameters of patients in the cleft group were the same as those in the control group in terms of nasal tip height (NTH), columella height (CH), and dome height (DH) (P values were 0.361, 0.494, and 0.086), but nasal width (NW) was greater in the cleft group (Pâ<â0.001). The nasal aesthetic parameters differed significantly between the 2 groups in terms of CLA (Pâ<â0.001) and ratio of NTH and NW (Pâ<â0.001), but not in terms of the CH:NW (Pâ=â0.190) and DH:CH ratios (Pâ=â0.147). CONCLUSION: This treatment protocol for bilateral cleft lip was able to achieve most of the aesthetic goals in terms of NTH, CH, DH, ratio of CH to NW, and ratio of DH to CH. However, more surgical correction of NW and CLAs may be needed.
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Antropometría , Labio Leporino , Niño , Preescolar , Labio Leporino/cirugía , Femenino , Humanos , Masculino , Tabique Nasal , TailandiaRESUMEN
BACKGROUND: Clinical assessment of indeterminate burn wounds has been reported to yield poor accuracy, even when performed by burn experts. Indocyanine green (ICG) dye angiography has been found to be highly accurate in assessing burn depth, but there is still limited evidence of its use in indeterminate burn wounds. This study aims to compare the accuracy of ICG angiography to that of clinical assessment in assessing indeterminate burn wounds. METHODS: This is a prospective, multicentered, triple-blinded, experimental study. Participants were stable patients, admitted to the hospital with burn wounds of indeterminate depth. The burn wounds were clinically assessed by an attending plastic surgeon. ICG angiography was performed and evaluated by another surgeon. Tissue biopsies were obtained and sent for histological study to be assessed as the gold standard. RESULTS: In the 30 burn sites that were assessed, the accuracy of ICG angiography was 100.0%, compared with 50.0% for clinical assessment (p < 0.001). Clinical assessment yielded a sensitivity of 33.3% and specificity of 66.7%, while ICG angiography yielded both a sensitivity and specificity of 100.0%. Therefore, the number needed to treat for using ICG angiography in indeterminate burn wounds was two. CONCLUSION: Indocyanine green angiography yields a significantly higher accuracy than clinical assessment in indeterminate burn wounds. This intervention can, thus, be a useful tool to aid clinical judgment. TRIAL REGISTRATION: Thai Clinical Trials Registry, number TCTR20170821001. LEVEL OF EVIDENCE: Diagnostic test, level I.
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Angiografía/métodos , Quemaduras/diagnóstico , Colorantes , Verde de Indocianina , Adulto , Quemaduras/patología , Método Doble Ciego , Femenino , Humanos , Masculino , Estudios Prospectivos , Reproducibilidad de los ResultadosRESUMEN
OBJECTIVE: This study was performed to evaluate the efficacy of Centella asiatica extract in cream, a preparation for the prevention of scar development of the split-thickness skin graft (STSG) donor site. METHODS: A prospective randomized, double-blind control study was performed to evaluate the efficacy of Centella cream in 30 patients who underwent a STSG operation. Both Centella cream and placebo were applied equally to the donor site at least 2 weeks after epithelialization was completed. A scar assessment using the Vancouver Scar Scale (VSS) was taken at 4, 8, and 12 weeks. RESULTS: Of the original 30 patients, 23 patients completed evaluation. There were significant differences in pigmentation parameter of VSS and comparative total VSS scores between 4 and 12 weeks in Centella cream group. CONCLUSION: The effect of Centella cream on scar development of a STSG operation may be attainable in terms of better pigmentation. By means of objective measurements and longer follow-up times, Centella cream may prove to be an alternative product for hypertrophic scar amelioration.
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Osteoradionecrosis (ORN) is a common consequence resulting from radiation in patients with cancer. Presently, hyperbaric oxygen therapy (HBOT) is proposed to have a role in improving wound healing in ORN patients. There is no strong scientific evidence to confirm the benefits of HBOT for treatment of ORN as an adjunctive treatment. This study aimed to determine the benefits of adjunctive treatment of HBOT in ORN. A retrospective study was conducted at the Srinagarind Hospital, the Faculty of Medicine, Khon Kaen University, Thailand, between 2011 and 2017. The patients diagnosed with ORN, who received adjunctive HBOT before the operation, were enrolled. Complete healing of wounds was the primary outcome. There were 84 ORN patients with a mean age of 58.78 years; 54.76% were male and 45.24% were female. HBOT had a role significant in improving wound healing of ORN patients with stages 1 and 2. Poisson regression analysis showed that stage 3 of ORN negatively correlated with the number of HBOT dives (p = 0.001, incidence rates ratio = 0.85). In conclusion, HBOT improved wound healing of ORN patients with stages 1 and 2. In addition, stage 2 of ORN patients significantly required the highest number of HBOT dives compared to other types of ORN to promote wound healing, whereas stage 3 patients, who underwent bone debridement combined with HBOT, initiated to success of treatment process and required a smaller number of dives.
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BACKGROUND: Reconstruction of extensive lower lip defects is challenging, and functional outcomes are difficult to achieve. METHODS: A modified bilateral neurovascular cheek (MBNC) flap has been described. The data of patients with cancer of the lower lip treated with wide excision and reconstructed with the MBNC flap in the Plastic Surgery Unit, Srinagarind Hospital, Khon Kaen University, from 1966 to 2012 were reviewed. RESULTS: Of the total of 143 patients included, 90.91% were women, and their age ranged from 32 to 100 years. All defects involved 70% or greater of the lower lip, which included oral commissure, buccal mucosa, or cheek skin and upper lip. All 20 patients who were followed up demonstrated good outcomes of intercommissural distance, interlabial distance, sulcus depth, and 2-point discrimination compared with normal lip parameters according to age group and satisfaction with treatment. CONCLUSIONS: Reconstruction of extensive lower lip defects with the MBNC flap provided good oral competence and functional outcomes. The flap provided adequate lip height and width, with proper position of oral commissure and vermilion reconstruction. The awareness about neurovascular anatomy of the lip and cheek and gentle dissection preserve the lip function. The flap overcomes the drawbacks of Karapandzic technique, which is microstomia, and of Bernard technique, which is a tight adynamic lower lip. It can be used in defects of more than two-thirds of the lip, extending to the cheek, commissural reconstruction, and secondary reconstruction.
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BACKGROUND: One infant in 700 is born with an oral cleft. Prior studies suggest low micronutrient status is associated with an increased risk of oral clefts. Environmental factors such as passive smoke exposure or supplement use may also affect oral cleft risk. We examined nutrition and environmental related risk factors for oral clefts. METHODS: We conducted a case-control study in Northeast Thailand in 2012 to 2013. We enrolled 95 cases and 95 controls. We recruited cases with a nonsyndromic cleft lip with or without a cleft palate (CL±P) less than 24 months old. Cases were matched to controls on age and place of conception. We collected survey data, a food frequency questionnaire, and measured zinc concentrations in toenail trimmings. We calculated descriptive statistics by case and control status. We used conditional logistic regression to estimate unadjusted and adjusted associations, 95% confidence intervals (CIs), and p-values. RESULTS: Any liver intake (adjusted OR [aOR] for ≥1/week versus none), 10.58; 95%CI, 1.74-64.37, overall p = 0.02) and the presence of food insecurity (aOR, 9.62; 95% CI, 1.52-61.05; p = 0.02) in the periconceptional period increased CL±P risk. Passive smoke exposure increased the risk of CL±P (aOR, 6.52; 95% CI, 1.98-21.44; p < 0.01). Toenail zinc concentrations were not associated with CL±P risk. CONCLUSION: Our findings add to a growing body of knowledge of environmental risk factors for oral clefts from low- and middle-income countries. Our findings on liver are contradictory to prior results. Large multisite studies are needed to identify environmental and genetic risk factors for oral clefts. Birth Defects Research (Part A) 106:624-632, 2016. © 2016 Wiley Periodicals, Inc.
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Labio Leporino , Fisura del Paladar , Exposición a Riesgos Ambientales/efectos adversos , Micronutrientes/deficiencia , Estudios de Casos y Controles , Labio Leporino/epidemiología , Labio Leporino/etiología , Fisura del Paladar/epidemiología , Fisura del Paladar/etiología , Femenino , Humanos , Recién Nacido , Masculino , Factores de Riesgo , Tailandia/epidemiologíaRESUMEN
Background: Cleft lip and palate (CLP) is a congenital anomaly of the lip and palate that is caused by several factors. It was found in approximately one per 500 to 550 live births depending on nationality and socioeconomic status. The Tawanchai Center and out-patients surgical room of Srinagarind Hospital are responsible for providing care to patients with CLP (starting from birth to adolescent) and their caregivers. From the observations and interviews with nurses working in these units, they reported that both patients and their caregivers confronted many problems which affected their physical and mental health. Based on the Soukup's model (2000), the researchers used evidence triggers from clinical practice (practice triggers) and related literature (knowledge triggers) to investigate the problems. Objective: The purpose of this study was to investigate the problems of care for patients with CLP in the Tawanchai Center and out-patient surgical room of Srinagarind Hospital. Material and Method: The descriptive method was used in this study. For practice triggers, the researchers obtained the data from medical records of ten patients with CLP and from interviewing two patients with CLP, eight caregivers, two nurses, and two assistant workers. Instruments for the interview consisted of a demographic data form and a semi-structured questionnaire. For knowledge triggers, the researchers used a literature search. The data from both practice and knowledge triggers were collected between February and May 2016. The quantitative data were analyzed through frequency and percentage distributions and the qualitative data were analyzed through a content analysis. Results: The problems of care gained from practice and knowledge triggers were consistent and were identified as holistic issues, including 1) insufficient feeding, 2) risks of respiratory tract infections and physical disorders, 3) psychological problems, such as anxiety, stress, and distress, 4) socioeconomic problems, such as stigmatization, isolation, and loss of income, 5)spiritual problems, such as low self-esteem and low quality of life, 6) school absence and learning limitation, 7) lack of knowledge about CLP and its treatments, 8) misunderstanding towards roles among the multidisciplinary team, 9) no available services, and 10) shortage of healthcare professionals, especially speech language pathologists (SLPs). Conclusion: From evidence-triggers, the problems of care affect the patients and their caregivers holistically. Integrated long-term care by the multidisciplinary team is needed for children with CLP starting from birth to adolescent. Nurses should provide effective care to these patients and their caregivers by using a holistic approach and working collaboratively with other healthcare providers in the multidisciplinary team.
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Labio Leporino/terapia , Fisura del Paladar/terapia , Accesibilidad a los Servicios de Salud/estadística & datos numéricos , Pacientes Ambulatorios/estadística & datos numéricos , Adolescente , Adulto , Niño , Preescolar , Femenino , Personal de Salud , Hospitales , Humanos , Lactante , Masculino , TailandiaRESUMEN
Objective: Evaluate the clinical outcomes regarding the time needed for Eustachian tube recovery and evaluate associated factors for the recovery in children with cleft palate undergoing primary 2-flap palatoplasty with intravelarveloplasty at Srinagarind Hospital. Material and Method: This was a retrospective descriptive study of 82 consecutive non-syndromic cleft palate patients with/without cleft lip, who underwent primary palatoplasty at Srinagarind Hospital between January 2007 and December 2010. Demographic data were collected including sex, cleft type, age of palatoplasty, operating surgeon, type of tympanogram, oronasal fistula, ventilation tube insertion, age of ventilation tube insertion, and number of ventilation tube insertion. Results: Forty-five boys and 37 girls were included in the study for a total sample of 82 patients. The majority of cleft types was Veau IIIb (37.8%), followed by Veau IV (21.95%), Veau IIIa (20.73%), Veau I (9.76%), and Veau II (9.76%). Mean age of palatoplasty was 11.4 months (range, 9-23). There were three plastic surgeons and plastic surgery residents. The average time for Eustachian tube recovery was 37.5 months. Oronasal fistula was 15.9%. Ventilation tube insertion was 58.5% (one time: 40.2%, two and three times: 18.3%). Average age of ventilation tube insertion was 16 months (range, 9-64). There was no statistically significant difference in sex, age of palatoplasty, operating surgeon, ventilation tube insertion, or number of ventilation tube insertions in Eustacian tube recovery, but there was a statistically significant difference in cleft type, oronasal fistula, and mean age for ventilation tube insertion in Eustachian tube recovery. Conclusion: The median recovery time for Eustachian tube function after primary 2-flap palatoplasty with intravelarveloplasty at Srinagarind Hospital was 37.5 months. Eustachian tube recovery was associated with severity of cleft types, oronasal fistula formation, and age of ventilation tube insertion.
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Fisura del Paladar/cirugía , Trompa Auditiva/fisiología , Procedimientos de Cirugía Plástica/efectos adversos , Colgajos Quirúrgicos/efectos adversos , Niño , Preescolar , Fisura del Paladar/clasificación , Femenino , Humanos , Lactante , Masculino , Recuperación de la Función , Estudios RetrospectivosRESUMEN
Objectives: To report the treatment expenses of the congenital malformations of craniofacial of in-patients of Srinagarind Hospital between 2010 and 2014 Material and Method: The expenses of congenital malformations of craniofacial in-patients of Srinagarind Hospital were studied by analyzing the actual amount charged and the reimbursement of treatment expenses. Results: One thousand eight hundred forty five in-patients were treated 2,144 times. The average treatment was about once or twice per person. Male patients were 54.1% and female were 45.9%. About 84% of the patients were under the universal coverage, with an average Relative Weight (RW) between 2010 and 2014 of 1.6988, 1.7059, 1.4847, 1.4165, and 1.5096, respectively. The average of the RW and the treatment expenses differentiated by the patients' eligible medical expenses for self-paid, Government or State Enterprise Officer (OFC), Social Security Scheme (SSS), and universal coverage (UC) were 1.0398, 1.1596, 1.2759, 1.3477, respectively. The average RW calculated under diagnosis-related group (DRG) for each patient was 1.3148. The estimated RW of OFC at 13,378 and UC at 9,600 baht per RW were 18,081, 14,535, 14,259, and 17,118 baht, for an average of 16,842 baht. The average of the treatment expenses charged by the hospital to the OFC was 14,535 baht and to the UC was 17,118 baht for each treatment. The treatment expense under DRG was lower than the cost under the hospital charge by 2,051,072 baht. Conclusion: The present study analyzed the treatment expense by patients' eligible medical expenses between 2010 and 2014. The universal coverage and government or state enterprise officer's charges were reimbursed to the hospital under DRG system for 32,257,000 baht while the hospitals actual charges were 34,308,072 baht. This indicated that Srinagarind Hospital must set up the fund to support congenital malformations of craniofacial patients for a minimum sum of 410,214 baht per year. This is likely to increase in the future.
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Anomalías Craneofaciales/economía , Anomalías Craneofaciales/cirugía , Precios de Hospital , Hospitalización/estadística & datos numéricos , Femenino , Hospitalización/economía , Humanos , Masculino , TailandiaRESUMEN
Background: The Dorsalis pedis perforator flap is a thin and pliable fasciocutaneous tissue. No previous study has demonstrated the surgical anatomy among Asians. Material and Method: Demonstrate the surgical anatomy of Dorsalis pedis perforator flap in 12 limbs from Thai cadavers. Results: We found the Dorsalis pedis perforators in all limbs and average the distance of distal perforators was 3.25+0.5 cm proximal to the metatarso-phalangeal joint. The first dorsal metatarsal artery was mainly type 1 (83.3%) while another 16.7% were type 2. Conclusion: Dorsalis pedisperforator flaps were versatile with a constant surgical anatomy and acceptable donor site morbidity.
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Colgajo Perforante/clasificación , Arterias Tibiales/anatomía & histología , Cadáver , Femenino , Humanos , Masculino , TailandiaRESUMEN
Objective: In this study we conducted the vascular anatomy of sural flap to determine the peroneal artery perforator contribution relative to anatomical landmark of tip of lateral malleolus, include the first peroneal artery perforator to identify safely pivot point of the flap. Material and Method: A retrospective study of an anatomical study of Vascular supply of the Distally Based Sural Artery Flap was performed by dissection on 12 fresh adult cadavers legs. We recorded number of the perforator, location of each perforators in relationship to the tip of lateral malleolus and location of first peroneal artery perforator. Results: The anatomical of vascular supply of the distally based sural artery flap, anatomical of peroneal artery perforators was identified and measured from anatomical landmark is tip of lateral malleolus. The mean number of perforators was 3.4 (range, two to five), grouped in 5 perforators at the following average locations proximal to the tip of lateral malleolus: first, at 6.3+0.9 cm; second, at 8.5+1 cm; third, at 11.17+1.4 cm; fourth, at 12.7+1.2 cm; and fifth, at 14.6+0.2 cm proximal to the tip of the lateral malleolus. Conclusion: Complete vascularization of venoneurofasciocutaneous sural flap was accomplished by peroneal perforator, the blood supply of the distally based sural venoneurofasciocutaneous flap can be pivoted at the lowest perforators in the posterolateral region, which are about 5.4 to 7.2 cm proximal to the tip of lateral malleolus.
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Colgajos Quirúrgicos/irrigación sanguínea , Arterias Tibiales/anatomía & histología , Articulación del Tobillo/irrigación sanguínea , Cadáver , Disección , Humanos , Estudios Retrospectivos , TailandiaRESUMEN
Background: The prevalence of 22q11.2 deletion in patients presenting with isolated cleft palate has not been systematically assessed. Objective: To assess the evidence in the literature for the prevalence of 22q11.2 deletion in patients who were presenting with isolated cleft palate. Material and Method: A systematic literature search was conducted through PubMed between 1992 and June 2016 using search terms of 22q11.2 deletion OR 22q11 deletion AND cleft palate. Results: Of the six prospective studies reported, 328 patients with isolated cleft palate had been screened with FISH (Fluorescence In Situ Hybridization) test for 22q11.2 deletion. Among the 328 patients, there was one (0.3%) patient with positive FISH test for 22q11.2 deletion. This patient was clinically assessed and did not have an associated malformation or clinically recognized syndrome. Conclusion: The prevalence of 22q11.2 deletion among patients with isolated cleft palate is rather low. Of more than 400 genetic disorders involving occurrences of isolated cleft palate, FISH testing for 22q11.2 deletion in a patient with isolated cleft palate is recommended on clinical suspicion of additional clinical presentations of 22q11.2 deletion syndrome such as conotruncal congenital heart diseases, dysmorphic facies, velopharyngeal insufficiencies, immune deficiencies, hypoparathyroidisms, and neuropsychiatric disorders.
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Fisura del Paladar/complicaciones , Síndrome de DiGeorge/epidemiología , Síndrome de DiGeorge/etiología , Humanos , Hibridación Fluorescente in Situ , Prevalencia , Estudios ProspectivosRESUMEN
Background: A birth prevalence of chromosome 22q11.2 deletion syndrome among population-based reports has been documented to vary, however, a systematic assessment is lacking. Objective: To assess the evidence in the literature for the birth prevalence of chromosome 22q11.2 deletion syndrome. Material and Method: A systematic literature search was conducted through PubMed between 1992 and June 2016 using search terms of 22q11.2 deletion OR 22q11 deletion and prevalence. Results: Of the six studies reported, there were 156 patients with 22q11.2 deletion syndrome found in total study populations of 1,111,336 live births. According to countries, the birth prevalence of this deletion syndrome (95% confidence interval) from United States, Belgium, Sweden, United Kingdom, France, and Singapore were 1.68 (1.22-2.26), 1.56 (1.33-1.72), 1.36 (0.91-2.08), 1.30 (0.45-2.15), 1.03 (0.53-2.23), and 1.02 per 10,000 live births, respectively. Estimates of minimum prevalence rates on the basis of the presence of this syndrome in cohorts of patients with cardiovascular malformations were from one in 4,000 to one in 7,092 live births. Conclusion: This systematic review indicates that the 22q11.2 deletion syndrome is rather common. The findings can help physicians, health care planners and other health professionals to plan and manage better care of these patients.