External Malformations Research Articles

Surgical technique and effect of proximal femoral nail anti-rotation internal fixation assisted with large retractor for the treatment of femoral intertrochanteric fractures

To investigate the surgical technique and efficacy of large retractor assisted maintenance of proximal femoral nail antirotation(PFNA) in the treatment of femoral intertrochanteric fracture in the absence of a retractor. A total of 55 patients with intertrochanteric fractures treated with PFNA internal fixation were selected from April 2012 to December 2016 with a large retractor assisted in maintaining reduction, including 18 males and 37 females with an average age of 75.65 years old ranging from 47 to 90 years old; 31 cases were on the left side and 24 on the right side. All patients had preoperative ipsilateral hip pain, limited mobility, ipsilateral lower extremity extreme external rotation malformation or accompanied by shortening, and preoperative radiographs were clearly diagnosed intertrochanteric fractures. The operative time, intraoperative blood loss, and intraoperative fluoroscopy time were recorded. Postoperative hip function were evaluated. The average operation time was 45.35 min, the average intraoperative blood loss was 117.64 ml and the mean intraoperative fluoroscopic time was 3.42 min. All the fractures were well restored. All patients were followed up from 12 to 24 months with an average of 16.43 months. All the intertrochanteric fractures were bone healed without hip varus deformity, and there were no complications such as internal fixation loosening and fracture. According to Harris hip function score criteria, the results were excellent in 40 cases, good in 8 cases, fair in 5 cases, poor in 2 cases. Large retractor assisted in maintaining the use of PFNA under reposition can fix various types of femoral intertrochanteric fractures. It has simple requirements for surgical position, low equipment requirements, short operation time, less trauma, reliable fixation, and good postoperative recovery. The surgical procedure can be carried out in a primary hospital without a traction bed.

Clinical Presentation of Congenital Cholesteatoma of the External Auditory Canal in Goldenhar Syndrome: A Case Series

Background: Goldenhar Syndrome, also called Oculoauricular Vertebral Dysplasia, includes abnormalities of the first and second branchial arches. Ear abnormalities are present in approximately 92% of those with Goldenhar Syndrome [1]. There is a wide spectrum for ear anomalies; they can range from preauricular tags and pits, microtia, external auditory canal (EAC) atresia, ossicular malformations, and facial nerve hypoplasia, which can lead to an array of clinical findings [5]. Hearing loss is an unfortunate consequence of these clinical findings, and often results in subsequent speech and language delays [4]. Despite the widely reported auricular and audiologic manifestations of this disease, a review of the literature revealed no detailed description or analysis of congenital canal cholesteatoma specifically in this patient population. Objective: This study aims to characterize congenital external auditory canal cholesteatoma as a feature of Goldenhar Syndrome. Method: A retrospective case series was conducted with patients seen at the UNC Craniofacial Center in Chapel Hill, NC. Inclusion criteria included patients with a diagnosis of Goldenhar Syndrome also found to have congenital cholesteatoma necessitating surgery. A total of three patients were identified who met inclusion criteria. Results: Three patients with Goldenhar Syndrome were identified who also had congenital external auditory canal cholesteatoma. All three patients underwent surgical management of their disease. Conclusion: Congenital external auditory canal cholesteatoma appears to be a feature of Goldenhar Syndrome not widely described in current literature. Though rare, it is a relevant disease process with significant clinical implications for both hearing as well as speech and language development. Awareness of this condition can thus help guide practitioners in the care of these patients.

Preferential Associated Malformation in Patients With Anotia and Microtia

Few epidemiological studies have investigated the external ear malformations anotia and microtia. The authors' study aimed to investigate the relationships between age, sex, type of microtia, and birth place and associated malformation as seen in 1 private Japanese clinic. Cases of anotia/microtia that presented in Nagata Microtia and Reconstructive Plastic Surgery Clinic (Saitama, Japan) between 2005 and 2018 were included in the study. The authors identified 1896 patients with anotia/microtia with or without associated malformation. Most were primary cases, with some secondary reconstruction cases wherein the primary surgery was performed at another hospital. Cases were classified with Nagata classification; lobule type, small concha type, concha type, and anotia. Cryptotia was also observed in this study. Among the patients, 61.1% were male, 85.4% had unilateral defects (69.0% LB), and 59.1% had a right-sided defect. Most patients were less than 1 year old (15.0%) or 8 to 10 years old (5.5%-6.3%) on first examination, while 58% were from the Kanto region, including Tokyo. Regarding concomitant disorders, 32.7% had an accompanying malformation, while 13.3% had associated syndromes (eg, craniofacial microsomia, Treacher Collins syndrome). To conclude, in the authors' clinic, most cases of anotia/microtia were LB, unilateral, and seen in male patients. Information regarding several characteristic clinical features was obtained, especially that clefts and musculoskeletal deformities of the skull/face and jaw were the main accompanying malformations.

Ear anomalies (congenital) at referral hospital

Background: In otorhinolaryngology region, about half of the malformation affects the ear. Congenital anomalies of the ear can affect the external ear, middle ear, and inner ear. The ear malformations can be unilateral or bilateral. In this study, we enrolled patients with preauricular cyst, tag, accessory tragus, preauricular sinus, pinna sinus, microtia, anotia, EAC atresia, and congenital sensorineural hearing loss (SNHL). Hearing loss may lead to delayed language development and poor school performance. Universal newborn hearing screening allows for earlier detection and intervention in infants with hearing loss, which may result in improved language development in affected children. Estimated rates of congenital SNHL range from 1/1000 to 3/1000 live births. Aim and Objective: Proper and early diagnosis can change the future of a child by providing hearing rehabilitation and speech therapy. Materials and Methods: It is a prospective study of 122 patients of ear-related anomalies, conducted at the Government Medical College and Sir T. Hospital, Bhavnagar, Gujarat, India, from January 2016 to July 2018. Results: we have observed patients with otological malformations which includes external, middle and inner ear malformations. Conclusion: This study contains 122 patients, of which more than half of the patients are male (54.91%). We obsereved patients with Congenital SNHL, pinna anomalies, congenital facial weakness. We have also obtained cases with Waardenburg syndrome and Goldenhar syndrome.

Teratogenic Effect of Meloxicam on Pregnant Rats: Implication of Organogenesis Period

This study was carried out to detect the risk of meloxicam use on fetuses. It was given to pregnant rats orally by dose1.35 and 2.70 mg/kg b.wt, from 6th day until the 15th day of gestation daily. At 20th day of gestation female sacrified; morphological, visceral, skeletal, biochemical and histopathological studies were carried out to evaluate its harmful effect. Meloxicam increased abortion rate and fetal resorptions as well as growth retardation and external malformations as hematoma and paralysis of limbs. Visceral examination showed defects in internal organs. Weak and incomplete ossification in axial and appendicular system were observed by skeletal examination. Drug caused increased level of MDA meanwhile reduction of glutathione reduced in liver tissue of fetuses. The histopathological examination revealed presence of marked degenerative changes in liver and kidney of fetuses. This study support and proof the potential risks of the Meloxicam administration on fetuses.

Fatal atlantoaxial dislocation due to an odontoid synchondrosis fracture in a child with chromosome 9 abnormality: A case report

A 5-year-old boy with a chromosome-9 abnormality and multiple external and visceral malformations was found in cardiopulmonary arrest during a regular visit to the hospital; he did not respond to cardiopulmonary resuscitation and died. An odontoid process fracture and calcification and fibrosis of the muscles around the superior cervical vertebra were observed during the autopsy. Postmortem computed tomography revealed an anterior dislocation of the atlas; odontoid synchondrosis fracture; and delayed, incomplete bony fusion of the odontoid process relative to his age. The cause of his death was a superior spinal cord injury. The tissue surrounding the upper cervical spine presented with myositis ossificans, suggesting a prior injury. He experienced a minor traffic accident 3 months before his death. It was concluded that the odontoid synchondrosis fracture occurred during the accident based on the incomplete bony fusion and atlantoaxial instability, which were consistent with the findings of myositis ossificans. Delayed fatal dislocation may then have occurred under the influence of a minor external force. Odontoid process abnormalities and atlantoaxial instability are common in patients with trisomy 21 and other congenital diseases; however, the condition's association with chromosome-9 abnormalities has not been reported. In children with various chromosomal abnormalities, periodic assessment of instability and morphology of the cervical spine, and a lowered examination threshold for the children at risk, could prove useful in the prevention injuries leading to fatality, and provide additional information to rule out abuse.

Usefulness of zebrafish in evaluating drug-induced teratogenicity in cardiovascular system

To confirm the usefulness of zebrafish for evaluating the teratogenic potential of drug candidates, the effect of O-ethylhydroxylamine hydrochloride (OHY), which induces mutagenesis by methylation, was evaluated in teratogenicity studies in rats and zebrafish. In the rat teratogenicity study, OHY-induced cardiovascular malformations such as increased abnormal vascular structures and ventricular septal defects. In the teratogenicity study using zebrafish-injected microspheres and green fluorescent protein-expressing Tg zebrafish (flk1:EGFP), OHY exposure was associated with the loss or malformation of the mandibular arch, opercular artery, and fourth branchial arch. These results suggested that OHY-induced external malformations in zebrafish eleutheroembryos adequately reflect OHY’s teratogenicity in rat fetuses. Moreover, the zebrafish teratogenicity study incorporating vascular morphological examinations, including those of blood vessels in the heart, head and trunk, is an easy and reliable screening method to detect potential drug-induced teratogenicity and phenotypic characteristics.

Simultaneous auricular reconstruction combined with bone bridge implantation-optimal surgical techniques in bilateral microtia with severe hearing impairment

BackgroundCongenital bilateral microtia with external ear canal (EAC)/middle ear malformation lead to severe appearance defects, hearing impairment and language barrier. Here we report an optimal integrated surgical technique for BoneBridge implantation and auricular reconstruction, which reduce time span of operation, total cost and patients' suffering as well. MethodSeven patients with bilateral external and middle ear malformation received 2-stage auricular reconstruction (age from 7 to 11 years old). In the 1st stage, 6th, 7th, and part of 8th autologous costal cartilage were used to make main body and C-shaped base part of the framework. In 2nd stage of the operation, dissect and lift the framework, isolate postauricular fascia and periosteum, put the BoneBridge subperiosteally and fixed with titanium screw. The C-shaped cartilage base was further attached to the framework and retroauricular fascial flaps and a full-thickness skin graft obtained from the donor site was used to cover posterior raw surface. ResultsPatients were followed up for about 8 months post operation, all of them satisfied with the outcomes and symmetric shape on both sides about desirable 3D detail without adverse complications. Hearing test indicated the mean improvement of auditory threshold of 34.8 dB HL 3 weeks after BoneBridge implantation, with mean scores of speech recognition test ranging from 26% to 62%. ConclusionThe combined 2-stage surgical techniques of simultaneous auricular reconstruction and BoneBridge implantation is safe and efficient for bilateral microtia with significant advantages in decreasing operation difficulties, shortening treatment span and relieving suffering for patients.

Renal ultrasound abnormalities in children with syndromic and non-syndromic microtia

ObjectiveRenal abnormalities are commonly considered in the work up of pediatric patients with external ear malformations. However, there is little consensus regarding an appropriate renal screening protocol for patients with microtia. We sought to characterize renal abnormalities detected on ultrasonography in pediatric patients with microtia. MethodsWe conducted a retrospective cohort study of pediatric patients diagnosed with microtia who underwent renal ultrasound from 1991 to 2014 at a single tertiary academic institution. Renal ultrasound reports and medical records were reviewed to assess for renal abnormalities and to determine whether patients required specialist follow-up or interventions. Audiograms and otolaryngology notes were used to determine patterns of hearing loss. The following additional information was recorded from the electronic medical records: patient sex, microtia grade (I-IV), microtia laterality, and known associated syndromes. Characteristics were compared between those who did and did not have renal ultrasound findings using Fisher's exact test. Univariate logistic regression analysis was performed to determine factors associated with renal ultrasound findings. ResultsThe majority of patients in this cohort were syndromic (n = 51, 64%) with grade III microtia (n = 46, 58%) and conductive hearing loss (n = 58, 72%). Syndromic children with microtia demonstrated a higher crude rate of renal ultrasound abnormalities (22%) than children with isolated microtia (7%). Of these patients, 69% required specialist follow-up. Univariate logistic regression analysis did not identify predictors that were significantly associated with renal ultrasound findings. ConclusionFairly high rates of abnormalities in syndromic and non-syndromic patients may warrant screening renal ultrasound in all patients with microtia, especially given the high percentage of findings requiring renal follow-up. A prospective study to formally evaluate screening efficacy is needed.

PECULIARITIES OF THE TOXIC EFFECT OF DIISONONYL PHTHALATE PLASTICIZER PHTHALATE ON EXPERIMENTAL MODELS

Introduction. The purpose of the study was to determine the characteristics of the biological effect of diisononyl phthalate, a new plasticizer for polymer products. Material and methods. Toxic properties of the compound have been studied in various ways of its entering in the organism of laboratory animals, local irritating, cumulative and skin-resorptive actions have been established, the potential ability of the compound to induce remote effects in experimental models in vivo/in vitro has been revealed. Results and discussion. The obtained data show diisononyl phthalate do not pose a risk of the acute poisoning under intragastric, intraperitoneal, epicutaneous and inhalation modes of exposure, being incapable of inducing signs of the irritation of the skin and mucous membranes, is not allergic. With subchronic intragastric administration of diisononyl phthalate in doses from 10,000 to 100 mg/kg, the dose dependence of toxic effect and its ability to cause chronic polytropic poisoning of the action in the form of disturbance of the pattern of peripheral blood, calcium and phosphorus metabolism and changes in the functional state of internal organs are revealed. In the study of the reproductive toxicity against the background of the administration of the drug at a dose of 10,000 mg/kg, an increase in total postimplantation, embryonic and the postnatal mortality rate was established. Intragastric administration of diisononyl phthalate at the mentioned dose to female animals during pregnancy triggered the formation of multiple (combined), external and internal malformations of embryos that were single in response to a reduced dose of up to 100 mg/kg. Changes in the state of the reproductive function of males have not been established. In the study of mutagenic toxicity in the Ames test, the effect of the compound has not been established to lead to an increase in the number of revertant colonies, which indicates the lack of ability of diisononyl phthalate to induce point mutations. Conclusion. The results of the studies showed that further study of the toxic effect of diisononylphthalate in chronic exposure and in vitro tests is necessary.

Evaluation of the effects of the larvicides temephos on reproductive performance, embryofetal development and DNA integrity of Swiss mice

Temephos is considered the gold standard by the Ministry of Health for controlling the larvae of the mosquito Aedes aegypti. The present study evaluated the effects of Temephos larvicide on the reproductive performance, embryo-fetal development and DNA integrity of Swiss mice. This study used 30 pregnant female mice: 10 were controls treated with drinking water at a dosage of 0.1 mL/10 g (body weight – b.w., administered orally - a.o.), and 20 were treated with Temephos at doses of 0.0043 mg/kg and 0.043 mg/kg (b.w., a.o.) during the gestational period. Statistical analysis showed that Temephos did not alter the biometric or reproductive parameters. Comparing the weight of the fetus to the stage of pregnancy demonstrated that the 0.0043 mg/kg dosage increased the size of the fetuses. No external malformations were detected. However, the 0.043 mg/kg dosage induced changes in the sternum, with the main change being the center of the sternum, xiphoid processes and absence of the manubrium. The other skeletal and visceral alterations did not differ from the control group and are considered variants of normality. The analysis of head measurements showed an increase in the anterior/posterior measurements of the glabella, the external occipital protuberance and the biauricular plane. The circumference and area of the head did not present significant differences. The micronucleus test showed only a 0.043 mg/kg increase in 48 h. Thus, it is considered that Temephos has a low teratogenic and genotoxic risk.

Is omphalocele a non-specific malformation in New Zealand White rabbits?

We evaluated the incidence of omphalocele, a malformation that occurs sporadically in many studies. We assembled data on external malformations using all treatment groups from every study published in three major journals over the past 35 years using New Zealand White rabbits. Fifty-eight papers were included: 4905 litters and 36,977 fetuses. Omphalocele was reported in 43% and was among the most common defects, occurring at a rate of 1.10% (litter) and 0.16% (fetus). The defect did not appear to be treatment-related, although it may have been in two studies, based on rate and dose-responsiveness. Removing these two studies from the analysis, the defect was still prevalent (0.77% litter, 0.11% fetal incidence). Three studies evaluated the effects of food restriction and omphalocele was observed with food restriction in two of them, suggesting that decreased maternal weight gain or food consumption may be causal. Otherwise, it appears to be spontaneous and common.

OZONE THERAPY: TERATOGENIC STUDY OF OZONE. POSSIBLE INDICATIONS IN OBSTETRICS AND GYNECOLOGY

OZONE THERAPY: TERATOGENIC STUDY OF OZONE. POSSIBLE INDICATIONS IN OBSTETRICS AND GYNECOLOGY

From Tissue Engineering to Regenerative Surgery

From Tissue Engineering to Regenerative Surgery

In Vitro Regeneration of Patient-specific Ear-shaped Cartilage and Its First Clinical Application for Auricular Reconstruction

Microtia is a congenital external ear malformation that can seriously influence the psychological and physiological well-being of affected children. The successful regeneration of human ear-shaped cartilage using a tissue engineering approach in a nude mouse represents a promising approach for auricular reconstruction. However, owing to technical issues in cell source, shape control, mechanical strength, biosafety, and long-term stability of the regenerated cartilage, human tissue engineered ear-shaped cartilage is yet to be applied clinically. Using expanded microtia chondrocytes, compound biodegradable scaffold, and in vitro culture technique, we engineered patient-specific ear-shaped cartilage in vitro. Moreover, the cartilage was used for auricle reconstruction of five microtia patients and achieved satisfactory aesthetical outcome with mature cartilage formation during 2.5years follow-up in the first conducted case. Different surgical procedures were also employed to find the optimal approach for handling tissue engineered grafts. In conclusion, the results represent a significant breakthrough in clinical translation of tissue engineered human ear-shaped cartilage given the established in vitro engineering technique and suitable surgical procedure.This study was registered in Chinese Clinical Trial Registry (ChiCTR-ICN-14005469).

Morphological diversity of carp Cyprinus carpio in the western part of the Balkhash Lake and Kapshagay water reservoir

Negative human impact on freshwater ecosystems lead to decreasing of diversity and fall down offish catches around the world. Fishes are one of the biological indicators of state of aquatic ecosystems.And so, carp Cyprinus carpio from the Balkhash watershed was chosen for the investigation in respect tohigh level of human impact and big commercial importance of the fish here. Investigation of variabilityof external morphology of carp from the western part of the Balkhash Lake and the Kapshagay waterreservoir had been done. Existence of external morphological abnormalities (malformations), fluctuating asymmetry of bilateral characteristics, variability of 30 morphometric and 12 meristic measures aswell as distribution of pores of the head lateral line. Principal components analysis was applied to intrapopulation variability assessment. Many of the investigated fishes were in well condition, but individual variability for both water bodies became larger then it was before strong human impact. Developmentalhomeostasis was disturbed in the both water bodies. The carp was presented generally with similarmorphological forms in the western part of the Balkhash Lake and Kapshagay water reservoir samplesof carps with a few specific forms. Big percent of external malformations was revealed in the sample ofcarp from the western part of the Balkhash Lake. That could be a result of lack of adaptation ability inconditions of strong negative human impact in this part of the lake.Key words: ichthyomonitoring, variability, carp, Balkhash basin, homeostasis

Treacher Collins Syndrome, Intellectual Disability, and Self-Inflicted Bilateral Traumatic Cataracts: A Case Report

Introduction: Treacher Collins syndrome is a congenital craniofacial disorder with unique ocular signs and an increased risk of a variety of visual abnormalities, including strabismus and amblyopia. Although most patients with Treacher Collins syndrome are of average intelligence, it can also be present in patients with intellectual disabilities. Patients with autism spectrum disorder and/or intellectual disability are at risk for developing selfinjurious behavior, which is often directed at the head and face. Traumatic cataracts are one of the more serious injuries that can occur secondary to this behavior. When cataracts become visually significant, extraction is required. After cataract extraction, aphakia can be corrected with intraocular lenses, glasses, or contact lenses. Case Report: A 6-year-old African American male with Treacher Collins syndrome, intellectual disability, hearing impairment, and autism spectrum disorder presented with bilateral traumatic cataracts secondary to selfinjurious behavior. His vision declined rapidly as the cataracts progressed. His mobility became extremely limited and he was no longer able to fixate on faces. After cataract extraction, the patient was left aphakic due to an increased risk of complications from ongoing self-injurious behavior directed at the eyes and face. He was prescribed aphakic sports goggles due to these behaviors and his external ear malformation. He will be considered for secondary intraocular lens implantation in the future. Conclusion: Patients with Treacher Collins syndrome and those who exhibit self-injurious behavior are at an increased risk for developing ocular abnormalities and should be monitored closely. For pediatric patients with cataracts, the decision whether or not to proceed with an intraocular lens insertion should be based on the patient’s behaviors, visual demands, and age. When choosing a treatment approach, it is essential to evaluate the patient’s lifestyle and visual demands, not just the diagnosis.

The external phenotype-skeleton link in post-hatch farmed Chinook salmon (Oncorhynchus tshawytscha).

Skeletal deformities in farmed fish are a recurrent problem. External malformations are easily recognized, but there is little information on how external malformations relate to malformations of the axial skeleton: the external phenotype-skeleton link. Here, this link is studied in post-hatch to first-feed life stages of Chinook salmon (Oncorhynchus tshawytscha) raised at 4, 8 and 12°C. Specimens were whole-mount-stained for cartilage and bone, and analysed by histology. In all temperature groups, externally normal specimens can have internal malformations, predominantly fused vertebral centra. Conversely, externally malformed fish usually display internal malformations. Externally curled animals typically have malformed haemal and neural arches. External malformations affecting a single region (tail malformation and bent neck) relate to malformed notochords and early fusion of fused vertebral centra. The frequencies of internal malformations in both externally normal and malformed specimens show a U-shaped response, with lowest frequency in 8°C specimens. The fused vertebral centra that occur in externally normal specimens represent a malformation that can be contained and could be carried through into harvest size animals. This study highlights the relationship between external phenotype and axial skeleton and may help to set the framework for the early identification of skeletal malformations on fish farms.

Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation

BackgroundTownes-Brocks syndrome (TBS) is a rare autosomal dominant condition characterized by renal, anal, limb, and auditory abnormalities. TBS diagnosis can be challenging in settings where genetic analysis is not readily available. TBS traits overlap with those of Goldenhar and VACTERL syndromes.Case presentationHere, we present the case of a 5-year-old Brazilian boy born with an anorectal abnormality, limb and external ears malformations, genitourinary anomalies, and a congenital heart defect. Genetic analysis revealed a SALL1 nonsense mutation. The case is discussed in the context of the current literature.ConclusionsBecause of the variability in TBS clinical presentation, genetic analysis is key to the differential diagnosis of TBS relative to phenotypically similar syndromes.

Ophthalmological abnormalities in Dubowitz Syndrome

Introduction: Dubowitz syndrome is a rare autosomal recessive disorder characterized by several congenital abnormalities, which include a wide range of both external and intraocular ophthalmologic deformities. We present a case report of a patient with Dubowitz Syndrome. Case report: A 3-year-old boy with Dubowitz syndrome was referred for ophthalmology consultation. The external ophthalmological examination showed bilateral blepharophimosis/ptosis, telecanthus and epicanthic folds. Cycloplegic retinoscopy revealed high hyperopia (+ 8.00 diopters) and the patient had convergent strabismus. Biomicroscopy and fundus examination were normal. Discussion/Conclusion: Dubowitz syndrome should be considered in the differential diagnosis of syndromes that present with the described external ophthalmological malformations. The ophthalmologist has to refer these patients to a specialized group able to integrate these anomalies with other systemic deformities, allowing a correct diagnosis and proper treatment.