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 complications associated with Meckel's diverticulum (MD) are well-known. However, blunt injuries regarding MD have not been widely described in the literature. This was the reason for ...undertaking research on MD lesions.
: The materials consisted of 28 cases of damage to MD after blunt trauma published during the years 1921-2022. The collected data were subjected to statistical analysis.
: The following MD injuries have been identified, starting with the most common isolated perforation of MD, bleeding from the area of MD, perforation of MD with concomitant tearing of the mesentery intestines and bleeding, intussusception of MD, and intramural hematoma of MD with adjacent mesenteric hematoma. Most injuries were caused by a traffic accident, followed by sports, accidents at work, and then violence. Almost all the cases (27) involved men. Several possible mechanisms may contribute to post-traumatic damage to MD. First of all, they are associated with abdominal compression and a secondary increase in intra-abdominal pressure as well as with the action of shearing forces during deceleration.
: Traumatic MD injuries are differentiated and very rare. They can coexist with other serious injuries to the abdominal organs.
Summary Introduction Orbital structures are affected in approximately 40% of all cases of craniofacial trauma. Changes in the bony orbital dimensions can alter the function of intraorbital contents ...and lead to serious complications. The unique anatomy of the orbit and the resulting surgical approaches make the process of fitting and aligning implants difficult, time consuming and operator dependent. It is now possible to make relatively inexpensive anatomical models on the basis of computed tomography images, using rapid prototyping. Such models can be used as templates to form titanium mesh implants, which are then used in the reconstruction of orbital floor defects. Material and methods Six patients with facial trauma were included in this study. First, 3D virtual models and then physical models were created. These were used as templates to shape the titanium mesh and then intraoperatively as guides to aid correct implant placement in the orbit. Results Significant improvement resulted in three cases and total recovery in three cases. Conclusion It is financially viable to build anatomical models, on the basis of CT studies, that can be used in the repair of orbital floor fractures.
Incorrect declaration of death is not a frequent situation in medico-legal reports, and such cases are usually of great interest. In this study the authors present a case of improper declaration of ...death by a physician, despite the absence of early definitive signs of death and without a full medical examination. However, the investigation of the case was dropped, and the conduct of the physician was not assessed by experts.
Aim: The aim of the study was to verify during forensic autopsies the occurrence of liver lacerations resulting from deceleration traumas in the locations reported in professional literature, and ...also to check whether they are located near the left coronary ligament and its extension, i.e. the left triangular liver ligament.
Methods: The liver injuries were assessed on the base of cases of forensic autopsies, performed at the Department of Forensic Medicine of the Medical University of Lodz from 1 st September 2011 to 15 th April 2014. In order to analyze the collected data, descriptive methods and statistical inference methods were used.
Results: Three types of liver rupture turned out to be characteristic and statistically significant: 1 - on the diaphragmatic surface of the right lobe between its two sectors; 2 - within the left lobe to the right (in segment IV) or to the left (in segment III) of the falciform ligament; 3 - located near the left coronary ligament (in segment II).
Conclusion: Typical location of liver lacerations after deceleration trauma, i.e. the right triangular ligament and falciform ligament, are confirmed in the analysed autopsy material. The place not previously described in the literature, which should be regarded as a characteristic location of a liver rupture after deceleration trauma is the diaphragmatic surface of segment II of the left lobe.
Abstract Purpose The accessory spleen is quite a common abdominal anomaly. However, the traumatic accessory spleen rupture is an extremely rare condition requiring surgical intervention, even ...laparotomy. 9 cases of traumatic accessory spleen were found published between 1962 and 2022. The study aims to evaluate traumatic accessory spleen rupture cases regarding their causes, clinical course, and possible diagnosis without surgery and treatment. Methods Desk research method using available online databases. Descriptive methods were employed to analyze the collected data. The results are summarized in the Table concerning gender, age, injury details, accessory spleen injury characteristics, treatment, and others such as previous splenectomy or primary spleen involvement in injury or accompanying abdominal injuries. Results In total, there were 9 cases of traumatic accessory spleen, of which 2 were managed conservatively and the remaining 7 were treated operatively. All the patients survived. One-third of all included patients already had their primary spleen removed, which facilitated the diagnosis of traumatic rupture of an accessory spleen. The proper diagnosis of an accessory spleen rupture was concluded in 2 cases and confirmed in surgery. Conclusion The recognition of the traumatic rupture of an accessory spleen before surgery is challenging but can be made easier if the patient underwent splenectomy before. The traumatic accessory spleen rupture does not coexist with an injury of a primary spleen.
The aim of the paper is analysis of the impact of immobilization treatment of "less severe" motor organ injuries affecting soft tissues on the position of medical experts and court decisions in ...crimes against health. We also analysed the attitude of courts to expert opinions and present a proposal for a model of judicial and medical opinion in such cases.
In the study, we analysed judgments of the criminal divisions of common courts, in which the use of medical immobilization of a given part of the body or lack thereof could have an impact on the degree of health impairment determined by the medical expert.
Some experts consider medical immobilization to be tantamount to an impairment of the function of a body organ, and the courts rarely reject such opinions. For some experts, the key is not the actual function of the immobilized part of the musculoskeletal system after 7 days from injury, but the immobilization treatment itself, and not the time it takes. In addition, experts determine the severity of injuries when immobilization is/is not used.
The degree of health impairment, as defined in the Penal Code, should be determined by a medical check-up carried out 7 days after the injury, with an assessment of its "biological" effects, and not by the use of immobilization treatment and the time for which it is maintained.
Hydrogels have various applications in medicine, for example, in systems for controlled drug release or as wound dressings, where they provide an appropriate environment for healing and constitute a ...barrier to microorganisms. The aim of this study was to evaluate the action of carboxymethyl chitosan (CMCS) hydrogels in wound healing therapy in vivo using a laboratory rat model. The hydrogels were formed from aqueous solutions of a CMCS biopolymer via electron beam irradiation, with the presence of a crosslinking agent of poly(ethylene glycol) diacrylate. A histopathological examination of injured tissue, using a model of a hard-to-heal wound, indicated that the CMCS hydrogel supported healing. The new gel dressing, being noncytotoxic, presents great potential in wound treatment, with positive effects on the amount of inflammatory infiltration, young collagen formation, and the degree of epidermalization. A key advantage of the current approach (i.e., using competitive radiation technology for synthesis) is that it includes only one step, with the product being sterilized as it is synthesized. The hydrogel effectively supports wound healing and can serve as a bio-based and biodegradable platform for other medical applications.
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