Goldenhar syndrome: current perspectives Bogusiak, Katarzyna; Puch, Aleksandra; Arkuszewski, Piotr
World journal of pediatrics : WJP,
10/2017, Letnik:
13, Številka:
5
Journal Article
Recenzirano
Background
Progress in medical branches that has taken place since the first child with Goldenhare syndrome (GS) had been described in 1952 by Maurice Goldenhar, facilitated better understanding of ...this congenital defect. It also gave new perspectives and the opportunity to achieve satisfactory treatment results, mainly due to development of surgical techniques.
Data sources
Based on the literature and own experience, we discussed the phenotype of presentation of GS, ethiopathogenesis, genetic counselling and treatment with particular emphasis on surgery correction of hemifacial microsomia.
Results
The spectrum of GS abnormalities ranges from mild to severe ones and include patients with barely noticeable facial asymmetry to very pronounced facial defect with more or less severe abnormalities of internal organs and/or skeleton. It is characterized most commonly by impaired development of eyes, ears, lips, tongue, palate, mandible, maxilla, zygomatic and orbital structures and deformations of the teeth structures. Ethiopathogenesis is multifactorial and dependent on genetic and environmental factors but there are still many unknowns about the syndrome which should be revealed.
Conclusions
Patients with GS due to a large variety of abnormalities and different severity of symptoms pose a challenge for clinicians. All of this necessitate an individual approach to each single patient and involvement a team of specialists in treatment planning. It is a complex, long-lasting, multidisciplinary process and should be divided into stages, according to patient’s age, as well as the extent and severity of observed abnormalities. Neonatologists and pediatricians are involved in care of these patients from the onset.
The aim of this study was to analyze the characteristics, namely, cause, type, site of fracture, and epidemiology data, of zygomaticomaxillary complex (ZMC) fractures.
Hospital records and computed ...tomographic scans of 468 patients, treated for ZMC fractures at the Department of Craniomaxillofacial and Oncological Surgery between January 1990 and December 1995 and between January 2000 and December 2007, were selected and analyzed according to several factors including age, sex, cause, type, site of fracture, alcohol use before injury treatment modalities, complications, and mean treatment delay.
A total of 468 patients (400 males and 68 females; male to-female ratio, 5.88:1) were included in this study. Their ages ranged from 15 to 85 years (mean T SD age, 37.1 T 14.83 y). Type B, by Zingg classification, was the most common type of ZMC fractures and accounted for 73.1% of cases. Assaults (64.5%), traffic accidents (13.9%), falls (13.0%), sports accidents (5.8%), and work accidents (2.8%) were noted. More than one-third of all the patients experienced injury after alcohol consumption. Of these patients, 96.6% were treated surgically. The most favored technique was miniplate osteosynthesis. The complication rate associated with the inaccurate reduction of the fractures was the most common. In this group of complications, minor asymmetry was the most common and occurred in 35 patients. Mean treatment delay was 42.7 hours. It ranged from 0.25 to 1080 hours, and the lowest value was observed in work accidents (2.7 hours).
Facial trauma can result in fractures limited to 1 component of the tetrapod structure but more commonly results in a tetrapod fracture involving all 4 buttresses. Males are the most common victims of ZMC fractures, and assault remains the major cause of ZMC injuries in Poland, like in most developed countries. Alcohol involvement among trauma patients is high, especially in case of assaults and falls. Each patient with ZMC fracture should be evaluated individually.
The aim of this paper was to characterise the isotopic composition of oral squamous cell carcinoma (OSCC) specimens of different areas of the oral cavity. Secondly, we assessed whether there was a ...correlation between clinical stages of OSCC and isotopic abundance. The IRMS procedure was performed on 124 samples derived from 31 patients with OSCC of 15 N and 13 C to assess the isotopic composition. From each individual, four samples from the tumour, two from the margins, and two samples of healthy oral mucous membranes were derived. The two samples from the tumour and two samples from the margin were additionally subjected to histopathological assessment. Then, statistical analysis was conducted. Tumour infiltration tissues of the lower lip were characterised by higher mean δ13C values compared to samples derived from cancers of the other oral cavity regions (−23.82 ± 1.21 vs. −22.67 ± 1.35); (p = 0.04). The mean percentage of nitrogen content in tumour tissues was statistically higher in patients with the most advanced cancers (11.89 ± 0.03%) versus the group of patients with II and III stage cancers (11.12 ± 0.02%); (p = 0.04). In patients at stage IV, the mean δ13C value in the cancer samples equalled −22.69 ± 1.42 and was lower than that in patients at less severe clinical stages (p = 0.04). Lower lip cancer tissues differed in the isotopic abundance of carbon in comparison with tissues derived from the group of combined samples from other locations. Values of δ13C observed in specimens derived from lower lip cancers were similar to those observed in healthy oral mucous membranes. Cancer tissues obtained from patients in the last stage of OSCC had a different isotopic composition in comparison with those obtained from earlier stages. To confirm these observations, further research on larger groups of patients is needed.
Overall prognosis for patients with oral squamous cell carcinomas (OSSC) is still unfavourable. However, there is a hope that a novel diagnostic method may establish better cancer biology ...characteristics. The aim of this study was to evaluate the isotope ratio of nitrogen and carbon in OSSC as compared to margin and healthy tissue. A total of 18 patients with OSSC were included in the study. Specimens collected covered: four tumour, four margin and two healthy oral mucosa samples. The samples underwent further procedures: lyophilization and isotope ratio mass spectrometry. Measurements of the ratio of stable isotopes of nitrogen 15N/14N and carbon 13C/12C were performed. It is noticeable that the highest average nitrogen concentration was observed in tumour 12 ± 0.4% and the lowest in healthy tissues 8 ± 0.9% (p < 0.00001). The highest average carbon content was observed in healthy tissues 57 ± 2.2% and the lowest in tumour 46 ± 1.3% (p < 0.00001). Moreover, values of 15N/14N expressed in delta notation were the highest in healthy tissues 9.84 ± 0.61 and the lowest in tumour 8.92 ± 0.58. Values of 13C/12C tended to be higher in tumour −22.2 ± 0.89 and the lowest in healthy tissues −23.7 ± 1.2. Tumour tissues differ in isotopic composition from tissues taken from margin and healthy tissues taken from distant oral mucosa.
The aim of this study was to analyze the mechanisms of animal-related injuries in Polish rural areas, and to evaluate the effects of such injuries on subjects' health and social life.
Data concerning ...animal-related injuries were collected from 102 patients (45 females and 57 males, mean age 45.01±11.4 years) on the basis of a questionnaire. The study was conducted in the rural area of central Poland. Moreover, to assess the severity of injuries to the head and neck region, the Facial Injury Severity Scale (FISS) was applied.
The most commonly affected body areas are the upper and lower limbs, which explains the fact that most subjects do not recognize the injury-related deformity as an aesthetic defect.Statistical correlations were observed in several aspects, amongst others: - women were significantly more likely than men to consider undergoing surgical procedures to eliminate/reduce post-traumatic deformities and scars (p<0.05); - injury-related deterioration in appearance resulted in limitations of patients' social life (p<0.0001).
Abstract Atherosclerosis was considered the main cause of abdominal aorta aneurysms. Many researchers suggest the presence of the association between these two entities. The aim of this paper was to ...evaluate the presence of atherosclerosis in the aorta and the arteries of the lower extremities, as well as stenoses and occlusions of carotid arteries in patients with abdominal aorta aneurysm. One-hundred and eighty patients with abdominal aorta aneurysm (23 women and 157 men), aged 50–86 years old (mean 67.28 ± 9.95) were qualified for the study. Each patient had ultrasound of abdominal aorta, arteries of the lower extremities and extracranial carotid arteries. The patients were divided into two groups: A – isolated abdominal aorta aneurysm (AAA-92 patients), B – AAA with atherosclerotic lesions in the abdominal aorta and/or the arteries of the lower extremities (88 patients), in which four different localizations of atherosclerotic lesions were distinguished. The statistically significant differences between the groups were observed in the prevalence of carotid arteries stenosis (CCA + ICA). No correlation was found between the aneurysm diameter and the stenosis grade of the extracranial segments of the carotid arteries. The presented results confirm the common occurrence of atherosclerotic lesions in aorta and/or arteries of the lower extremities and carotid arteries in patients with abdominal aorta aneurysm, yet their etiology is different. Such patients represent a heterogeneous group in respect to the presence of carotid arteries stenoses.
Background The aim of this research was to assess the neurologic status of patients a year after endarterectomy with the use of National Institutes of Health Stroke Scale (NIHSS) and the degree of ...disability using the modified Rankin Scale (mRS) and to examine the patients' subjective evaluation of their health. Methods One hundred two patients with symptomatic internal carotid artery stenosis who underwent endarterectomy and attended a 1-year follow-up examination were enrolled in the study. The material comprised 72 (70.6%) men and 30 (29.4%) women. Before the surgery, the patients' neurologic status was assessed according to the NIHSS, and their functional status was rated with the mRS. Additionally, the patients were asked to assess their life quality on a 10-point Likert scale. Results The mean NIHSS score before the operation was 2.76 points (SD 2.47), whereas a year after it was 2.05 points (SD 1.84) ( P < .0001). The NIHSS scores that improved significantly a year after endarterectomy were level of consciousness-questions and commands, motor leg, and sensory ( P < .05). Conclusions The patients' neurologic status assessed with the NIHSS improved significantly 1 year after carotid endarterectomy mostly because of the improvement in their verbal and motor communication ability, physical condition and agility, and reduction in sensory disturbances. The observed changes in the neurologic status were reflected in the functional status and subjective life quality assessment, which appeared to be significantly better a year after the surgical treatment.
Treatment strategy in Goldenhar syndrome Bogusiak, Katarzyna; Arkuszewski, Piotr; Skorek-Stachnik, Katarzyna ...
The Journal of craniofacial surgery
25, Številka:
1
Journal Article
Recenzirano
Goldenhar syndrome is a rare congenital defect characterized by ocular symptoms including (epibulbar dermoids, microphthalmia, anophthalmia, eyes asymmetry/dysmorphy, cleft eyelid, exophthalmia, ...strabismus), auricular symptoms (dacryocystitis), preauricular appendages, preauricular fistulas, ear asymmetry, microtia, atresia of the external auditory canal), craniofacial deformities (cleft face, cleft lip, cleft palate, macrostomia, bifid tongue, hypoplasia of the mandible, hypoplasia of the maxilla, asymmetry of the mandible and maxilla, malocclusion, tooth discrepancies, agenesis of third molars and second premolars, supernumerary teeth, enamel and dentin malformations, delay in tooth development), and skeletal abnormalities (cleft spine, microcephaly, dolichocephaly, plagiocephaly, vertebral defects) or abnormalities of internal organs. The degree of abnormalities vary from severe to mild. In this article, we present a long-term observation of a patient with Goldenhar syndrome. During the patient's life, the intensification of anomalies varied. We describe preoperative and postoperative orthodontic treatment and surgical correction procedures of maxillofacial deformation.
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