Benign Anomaly Research Articles

The Long-Term Natural History of Fibrous Dysplasia.

Fibrous dysplasia (FD), a developmental, nonfamilial, benign anomaly of bone development, is characterized by the replacement of normal bone by proliferating fibro-osseous tissue. Marked craniofacial deformities, functional disturbances, and emotional stress are major indications for treatment, and various surgical procedures have been performed; however, excision and regrowth issues have also been reported. While several treatment options are available, no studies have reported the natural history of untreated FD. Here, we report 2 patients, aged 73 and 50 years, respectively, who had not received treatment. Both patients presented to the hospital complaining of noise when moving their heads. Computed tomography scans showed niveau with honeycomb cavities in both patients, indicating abscess formation, and resection was performed. Relatively large cranial FD leads to the development of central necrosis over time. In such cases, surgical intervention should be performed at an early disease stage.

The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations

BackgroundAn isochromosome of the long arm of chromosome 7, i(7)(q10), and an interstitial deletion of the long arm of chromosome 20, del(20)(q), are the most frequent anomalies in the bone marrow of patients with Shwachman-Diamond syndrome, which is caused in most cases by mutations of the SBDS gene. These clonal changes imply milder haematological symptoms and lower risk of myelodysplastic syndromes and acute myeloid leukaemia, thanks to already postulated rescue mechanisms.ResultsBone marrow from fourteen patients exhibiting either the i(7)(q10) or the del(20)(q) and coming from two large cohorts of patients, were subjected to chromosome analyses, Fluorescent In Situ Hybridization with informative probes and array-Comparative Genomic Hybridization. One patient with the i(7)(q10) showed a subsequent clonal rearrangement of the normal chromosome 7 across years. Four patients carrying the del(20)(q) evolved further different del(20)(q) independent clones, within a single bone marrow sample, or across sequential samples. One patient with the del(20)(q), developed a parallel different clone with a duplication of chromosome 3 long arm. Eight patients bore the del(20)(q) as the sole chromosomal abnormality. An overall overview of patients with the del(20)(q), also including cases already reported, confirmed that all the deletions were interstitial. The loss of material varied from 1.7 to 26.9 Mb and resulted in the loss of the EIF6 gene in all patients.ConclusionsAlthough the i(7)(q) and the del(20)(q) clones are frequent and clinically benign in Shwachman Diamond-syndrome, in the present work we show that they may rearrange, may be lost and then reconstructed de novo, or may evolve with independent clones across years. These findings unravel a striking selective pressure exerted by SBDS deficiency driving to karyotype instability and to specific clonal abnormalities.

The influence of subject learning on the skills of decoding autofluorescent images of the oral mucosa

Background. Despite the ease of implementation, harmlessness, painlessness and speed of the study, the method of autofluorescence does not belong to the routine and often used because of the dependence on the skill of the dentist in interpretation of the resulting visualization. Foreign and domestic researchers speak about the need for thematic training of dentists for the widespread introduction of the autofluorescence method into practice. There is no data proving the influence of training on the skill of interpretation autofluorescence images and showing the dependence of the skill on the duration of training and its frequency.The aim of the study was to conduct a comparative analysis of the results of interpreting autofluorescence images of the oral mucosa by dentists before and after thematic training.Methods. 308 dentists interpreted 20 images of autofluorescence of the oral mucosa before and after the thematic training, 10 of them were of potentially malignant diseases of the oral mucosa, 10 – of benign lesions and paraphysiological anomalies. Correctly identified mucosal changes presented in the autofluorescence image were considered positive results of decoding. The results were evaluated relative to the duration of training and its frequency, taking into account the duration of breaks, according to the average number of positive results.Results. Before the thematic training, dentists on average decoded 8.41 ± 4.89 images, after training – 12.11 ± 3.12 images. The difference before and after the thematic training between the number of positive results of interpretation autofluorescence images is statistically significant (t = –14.1, p˂ 0.001). There was no significant difference in the results of interpretation potentially malignant oral diseases (F = 1.67; p = 0.190) and benign lesions and conditions (F = 0.647; p = 0.524) between the three groups that studied for 6, 12 and 18 hours. There is a correlation to the duration of the interruption of training with positive results of decoding (r = –0.3376; p˂ 0.001). The positive results of interpretation of autofluorescence with regular monthly 6-hour training had significant increasing trends (12.11 ± 3.12 and 13.22 ± 1.76, t = –3.41, p = 0.001; 13.22 ± 1.76 and 14.40 ± 1.81, t = –4.74, p˂ 0.001).Conclusion. Thematic training improves the skill of interpretation autofluorescence images in dentists. The regularity of short-term training is more important for maintaining the interpretation skill than the duration of training.

Impact of ankyloglossia on the language development of children

Objective: Ankyloglossia is a benign anomaly of the tongue which may cause functional limitation. Evidence regarding the impact ofankyloglossia on children’s language development is limited. We aimed to evaluate the language development of children born withankyloglossia.Patients and Methods: Children diagnosed with ankyloglossia were followed up prospectively. Demographic characteristics, degreeof ankyloglossia assessed by Hazelbaker score in infancy and its effects on breastfeeding were evaluated. Language development wastested by the Turkish version of the Test of Early Language Development-Third Edition and the Denver II Test at 3-5 years of age.Results: Out of 53 children diagnosed with ankyloglossia, 38 (71.7%) children had language development testing and were included intothe study. Significant ankyloglossia was detected in infancy in 10 of these children (26.3%). Median time of exclusively breastfeedingwas not different according to the severity of ankyloglossia. All children evaluated with Denver II Test were developmentally normalin all domains. Scores of Test of Early Language Development-Third Edition were not different between children with and withoutsignificant ankyloglossia.Conclusion: Long term language development of children with ankyloglossia was not adversely affected. Parents should beappropriately informed and efforts must be paid to prevent unnecessary surgical interventions concerning language delay.

Intra-articular venous malformations of the knee: a diagnostic challenge

BackgroundIntra-articular venous malformations (IAVM) are rare benign vascular anomalies that usually affect young patients and most common locate in the knee. The terminology of these lesions is still ill-defined, as they are often termed in the literature as synovial hemangiomas. Early diagnosis can be difficult, because they usually present with nonspecific clinical manifestations that are similar those of other rheumatic diseases, especially juvenile idiopathic arthritis (JIA).Case seriesWe conducted a retrospective analysis of five pediatric patients admitted to our units for recurrent swelling of the knee, and compared their characteristics with those of literature reports. The average age at first symptom and time from onset to diagnosis was 3.9 years (range 18 months-7 years) and 3.5 years (range 1-7 years), respectively. In our patients, an initial misdiagnosis of JIA, bleeding disorder or traumatic arthropathy was made. On MRI imaging, the features of the lesion were similar in all patients, and were marked by isointense-to-hypointense signal in T1-weighted images, and hyperintense signal in T2-weighted images. When performed, arthrocentesis led to aspiration of bloody fluid. The diagnosis was confirmed with a biopsy and histopathologic assessment in all patients. Open surgery enabled complete excision of the mass and was followed by stable remission over time in all cases.ConclusionsOur report highlights the challenges that may be posed by the detection of knee IAVM and the frequent long delay between onset of symptoms and diagnosis. The key elements for early recognition include careful assessment of patient history, demonstration of bloody fluid on arthrocentesis, and proper interpretation of MRI scanning.

1521 Oral Foregut Duplication Cyst in A Neonate: A Case Report and Review of The Literature

Abstract A four-day-old neonate was referred to the Oral and Maxillofacial Surgery department by the Paediatric medical team regarding a cystic lesion associated with the child’s lingual frenulum. The lesion appeared to be affecting feeding causing a potential failure to thrive. An MRI showed a 22 x 14 x 17 mm thin-walled oval cystic structure within the midline of the tongue/floor of the mouth. The decision was made with the family to surgically excise the lesion under a general anaesthetic. The histopathology results demonstrated the cyst to be lined with both gastric surface mucus cells and ciliated respiratory-type epithelium. The patient was diagnosed with having an Oral Foregut Duplication Cyst (OFDC), also known as a lingual choristoma, enteric duplication cyst or heterotopic gastrointestinal cyst of the oral cavity. OFDCs are benign developmental anomalies that contain foregut derivatives. The cyst linings can contain gastrointestinal, respiratory, squamous or mixed cell types. There are only approximately 58 cases reported in the literature, demonstrating the rarity of these lesions. OFDCs can be asymptomatic but in some neonates, they can present with difficulties feeding, swallowing and even has been shown to cause airway obstruction. If left in situ an OFDC can potentially go on to hinder speech development. Although rare, OFDCs should be considered in a differential diagnosis of congenital oral lesions and in particular those of the anterior floor of mouth and tongue. With the use of pre-op imaging to help planning, surgical excision is both diagnostic and therapeutic.

The Unusual Association of Congenital Hydronephrosis with Intestinal Obstruction In a Newborn

Hydronephrosis in a newborn in typically asymptomatic. It is one of the most common and usually benign anomalies detected on prenatal ultrasonography, with only a minority causing significant problem requiring urgent intervention. Grading systems are in place to classify hydronephrosis based on trimester and the antero-posterior diameter of the fetal renal pelvis. Albeit a cause for parental and physician anxiety, it is reassuring that most cases tend to be transient according to established literature, and may only require watchful waiting along with adequate follow up, the protocols for which are in place in most countries. Sometimes however, a large hydronephrosis could cause mass effect, pressing on the anatomically adjacent structures in the body, and could therefore present in ways not commonly thought of. We present a neonate with giant congenital hydronephrosis with feed intolerance resulting from duodenal obstruction. A brief description of the case is followed by a mini review.

LIPOMATOUS MASS OF THE LIMBUS PORTION OF THE ATRIAL SEPTUM - AN UNUSUAL CAUSE OF DYSPNEA

Lipomatous hypertrophy of the atrial septum (LHAS) is a benign anomaly of the heart characterized by an infiltration of adipocytes into myocytes of the atrial septum. We report a case of a large lipomatous mass primarily localized to the limbus portion of the atrial septum which occupied the right

A Review of Benign Congenital Anomalies.

Benign congenital anomalies are common in neonates. Some of these common benign congenital anomalies include preauricular pits, sacral dimples, supernumerary digits, accessory nipple, and natal teeth. It is important for health care providers who take care of newborns to recognize these benign anomalies so that unnecessary evaluations and investigations are not performed. However, some of these anomalies may be associated with clinically significant conditions. In this article, we discuss when further evaluation should be performed in babies presenting with these common benign congenital anomalies. [Pediatr Ann. 2020;49(2):e66-e70.].

LIP HEMANGIOMA IN A YOUNG PATIENT: AN AESTHETIC CHALLENGE MANAGED BY AN ASSOCIATION OF TREATMENT TECHNIQUES

Treatment of benign lip vascular anomalies can be an aesthetic challenge even though several techniques are available to manage these lesions. A difficult case treated with an association of techniques is presented. A 12-year-old boy with an extensive congenital hemangioma in the upper lip was referred with an aesthetic complaint and past history of treatment failures. Sclerotherapy with 5% ethanolamine oleate was proposed. Intriguingly, after 6 sessions of sclerotherapy, the size and the consistency of the lesion remained almost the same, although some color improvement was observed. Therefore, an aesthetic surgery was considered and the patient was referred to a vascular surgeon. After arteriography, 3 sessions of percutaneous embolization with 3% polidocanol foam was performed. Afterward, the patient underwent 2 surgical interventions using diode high-potential laser achieving a satisfactory result. Although uncommon, a refractory vascular lesion may occur and an association of different techniques may be necessary.

Mining association rules for anomaly detection in dynamic process runtime behavior and explaining the root cause to users

Detecting anomalies in process runtime behavior is crucial: they might reflect, on the one side, security breaches and fraudulent behavior and on the other side desired deviations due to, for example, exceptional conditions. Both scenarios yield valuable insights for process analysts and owners, but happen due to different reasons and require a different treatment. Hence a distinction into malign and benign anomalies is required. Existing anomaly detection approaches typically fall short in supporting experts when in need to take this decision. An additional problem are false positives which could result in selecting incorrect countermeasures. This paper proposes a novel anomaly detection approach based on association rule mining. It fosters the explanation of anomalies and the estimation of their severity. In addition, the approach is able to deal with process change and flexible executions which potentially lead to false positives. This facilitates to take the appropriate countermeasure for a malign anomaly and to avoid the possible termination of benign process executions. The feasibility and result quality of the approach are shown by a prototypical implementation and by analyzing real life logs with injected artificial anomalies. The explanatory power of the presented approach is evaluated through a controlled experiment with users.

Internal jugular phlebectasia: A systematic review.

Background:Internal jugular phlebectasia (IJP), the abnormal dilatation of internal jugular vein, is generally considered a benign anomaly. However, because IJP is uncommon, little is known about its natural history, and currently, no consensus on the best treatment modality is available.Methods:The purpose of this article is to conduct a systematic review of available literature on recently reported IJP cases to understand the main characteristics of IJP and its most frequent therapeutic approaches. Following the preferred reporting items for systematic reviews and meta-analyses guidelines, literature search for IJP cases was conducted in the COCHRANE, PUBMED, EBSCOHOST, SCOPUS, OVID, and SCIELO databases.Results:A total of 97 original articles were found, with a total of 247 IJP cases reported including both pediatric and adult patients.Conclusions:To the best of our knowledge, this study is the largest systematic review analyzing all the reported cases of IJP. IJP is considered by most authors as a benign abnormality that predominantly affects the right jugular vein. It is most commonly diagnosed in children. At present, conservative treatment is preferred for pediatric but not for adult patients. Multicenter randomized prospective studies are required to further understand this rare anomaly.

Image Case : Pancreatic Rest

18 years old female patient presented by epigastric pain and dyspepsia.Upper gastrointestinal endoscopy revealed umplicated small antral mass(pancreatic rest). Pancreatic rests are benign congenital anomalies defined as pancreatic tissue that lacks anatomic or vascular continuity with the pancreas itself . Also referred to as pancreatic heterotopia, heterotopic pancreas, ectopic pancreas, aberrant pancreas, and accessory pancreas. Although they can be located in many sites throughout the body, they are most commonly found in the upper gastrointestinal tract, with the gastric antrum being the most common site. The differential diagnosis of gastric antral subepithelial lesions includes benign entities such as pancreatic rests, lipomas, inflammatory polyps, hyperplastic mucosa, Leiomyoma and cysts as well as entities with malignant potential such as carcinoid tumors and gastrointestinal stromal tumors. Mucosal biopsies can exclude epithelial tumors, and EUS can help exclude other lesions (such as cysts, lipomas, stromal tumors, or extrinsic lesions). The treatment of symptomatic pancreatic rest is:Endoscopic band ligation snare polypectomy(EBLSP) or Surgery. EUS should be performed prior to endoscopic mucosal resection to ensure safety of resection by making sure the lesion is superficial, not vascular, and does not involve the muscularis propria.

Smart pothole detection system using vehicle-mounted sensors and machine learning

Road networks are critical assets supporting economies and communities. Despite budget and time constraints, road authorities strive to maintain them to ensure safety, ongoing service, and economic productivity. This paper proposes a virtual road network inspector (VRNI), which continuously monitors road conditions and provides decision support to managers and engineers. VRNI uses acceleration data from vehicle-mounted sensors to assess road conditions. It proposes a novel road damage detection method based on two adaptive one-class support vector machine models, which were applied on the vertical and lateral acceleration data. We evaluated this method on data from a real deployment on school buses in New South Wales, Australia. Experimental results show that our method consistently detects 97.5% of the road damage with a 4% false alarm rate that relate to benign anomalies such as expansion joints.

Balloon Catheter for Cervical Priming before Operative Hysteroscopy in Young Women: A Pilot Study

Aim: To investigate regarding the safety and effectiveness of a balloon catheter (Aqueduct-100 device) to dilate the uterine cervix before operative hysteroscopies. Secondary objectives were to evaluate the duration of the dilatation procedure and to investigate on physicians’ satisfaction with the device. Methods: Fifty women younger than 40 years, wishing pregnancies and diagnosed with apparently benign intrauterine lesions and/or uterine anomalies, were enrolled into this study and submitted to cervical priming with Aqueduct-100 device before operative hysteroscopy. Results: Initial cervical dilatation was ≤4 mm in all but one patient. Adequate (10 mm) cervical dilatation was achieved in only one patient, the remaining forty-nine needed additional cervical dilatation. All women, however, presented with a ≥6 mm cervical width after balloon catheter removal. The mean time to final cervical dilatation was 8.5 minutes. No perioperative complications occurred. Physicians reported, in the majority of cases, satisfaction for the dilatation achieved (66%), the ease of balloon catheter insertion/use (82%), and for the ease of additional dilatation (96%). Conclusions: Aqueduct-100 device before operative hysteroscopy is safe and useful to increase the baseline cervical width and facilitate additional dilatation, with good effects on physician satisfaction and acceptable dilatation times.

Pitfalls in pancreatic lesion diagnostics: an accessory intrapancreatic spleen

Introduction. Accessory spleen (splenunculus) is one of the most common benign congenital anomalies in humans. The location of splenunculus may vary from perisplenic, greater omental or mesenterial to intraparenchymal (pancreas, stomach, duodenum, etc.). In the latter case, the additional spleen is called ectopic (from the greekektoposdisplaced). Most frequently detection of such splenic lobules occurs accidentally via abdominal ultrasound.Objective: two cases of verified intrapancreatic accessory spleen (IPAS) and main criteria for differential diagnosis with other hypervascular pancreatic lesions.Materials and methods. We present two case reports: a 43-year-old woman with a history of kidney cancer and a healthy 61-year-old man. In both cases, pancreatic neuroendocrine neoplasia (NEN) was initially suspected. Preoperative diagnostics included abdominal ultrasound examination and multiphase dynamic computed tomography (CT) with intravenous bolus nonionic iodine-based contrast agent (native, arterial – 10 sec, venous – 60 sec and delayed – 300 sec after threshold density of 150 HU in the aorta was exceeded). In one case magnetic resonance imaging (MRI) including axial, sagittal and coronal T1and T2-weighted images, diffusion-weighted images and dynamiccontrast-enhanced series with gadolinium chelate was performed. Both patients underwent robotic assisted distal pancreas resection. Morphological examination revealed IPAS.Results. In contrast-enhanced computed tomography IPAS has densitometric parameters similar to the spleen. Generally, magnetic resonance imaging does not differentiate IPAS, NEN and hypervascular metastases, since all three are generally T2-hyperintense and T1-hypointense. Contrast enhancement pattern with gadolinium chelateswas similar to CT-contrast enhancement pattern.Conclusion. Intrapancreatic accessory spleen does not require surgical treatment. Therefore, differential diagnosis between IPAS and neuroendocrine neoplasia, solid pseudopapillary tumor and hypervascular pancreatic metastases is crucial. MRI has an advantage with non-invasive diffusionweighted images (DWI). The apparent diffusion coefficient (ADC) of IPAS will be quantitatively similar to the main spleen while other lesion will demonstrate lower ADC values. Scintigraphy with red blood cells bound with 99mTc utilizes the reticuloendothelial system (RES) in the spleen demonstrating characteristic uptake in the IPASand the main spleen. Ultrasound with color Doppler and contrast enhancement may be a good addition to our armamentarium. One can evaluate the vascular pedicle of the IPAS, as well as contrast agent retention in RES via sonography. We believe the multimodal approach including MRI with DWI/ADC to be the most effective.

Three-flap umbilicoplasty: a novel and preliminary method of laparoendoscopic single-site transumbilical surgical approach for urachal remnants.

Symptomatic urachal remnants are rare benign anomalies affecting young adults. For these patients, both curative treatment and acceptable postoperative aesthetic outcomes are important. Here, we describe a novel transumbilical approach, using Y-shaped incisions and three-flap umbilicoplasty techniques, to improve repair and aesthetic outcomes. The clinical and perioperative data of 16 patients (11 men; median age, 25years; range 16-46years) who underwent LESS surgery and three-flap umbilicoplasty (LESS group) between December 2013 and March 2017 were analyzed. For comparison, the perioperative data of those who underwent conventional laparoscopic surgery (CL group) between May 2010 and November 2013 at the same institutions were investigated. The median operative time of the LESS group was longer than that of the CL group (146.5 vs 107min; p=0.009). The estimated blood loss and postoperative hospital stay were not significantly different between the two groups. The two perioperative complications were injury to the transverse colon serosa and minor surgical site infection. Both complications were resolved with appropriate management. This novel umbilical approach is useful for patients with symptomatic urachal remnants, with the reduction in port-site scarring resulting in good postoperative cosmesis.

Thymus ectopique : une cause rare de tuméfaction cervicale chez le nourrisson

Ectopic cervical thymus (ECT) is a rare embryological abnormality in children. It can be revealed by a compressive neck mass mistaken for a malignant tumor. Through a new case of ECT, we review the embryopathogenesis, diagnostic difficulties and therapeutic features. A 19-month-old girl presented a right cervical mass that quickly increased in size, causing intermittent dyspnea. The physical examination objectified a 6-cm, soft and compressible, painless right cervical tumefaction, extending from the mastoid area to the ipsilateral supraclavicular fossa. The diagnosis suggested based on CT was a cervicomediastinal cystic lymphangioma. The diagnoses discussed based on MRI were a collection of necrotic lymphadenopathy, rhabdomyosarcoma or neurofibroma debris. The mass was surgically excised through a laterocervical incision. A whitish multilobular tissular mass was found, adherent to the neurovascular axis of the neck. Pathological examination concluded in normal ectopic thymus tissue. The postoperative course was uneventful. Although ECT is a rare benign anomaly, it should be considered as a possible cause of a neck mass in children. Surgery is the curative treatment. Before surgery, the presence of a mediastinal thymus must be confirmed to avoid the risk of a total thymectomy in children. MRI is helpful in delineating thymic ectopia compared to the mediastinal thymus.

Assessment of indirect inflammatory markers in patients with myocardial bridging.

SummaryIntroduction:Myocardial bridging (MB) is a congenital variant of the coronary artery in which a portion of the epicardial coronary artery takes an intramuscular course. Although it is considered a benign anomaly, it may lead to such complications as myocardial ischaemia, acute coronary syndrome, coronary spasm, exercise-induced dysrhythmias or even sudden death. MB may be related to increased inflammatory and atherosclerotic processes. This study was conducted with the aim of evaluating the relationship between neutrophil/ lymphocyte ratio (NLR) and MB.Methods:Taking into consideration the inclusion criteria, 86 patients with MB and 88 with normal coronary angiographies (control group) were included in the study. The association between MB and laboratory and other clinical parameters was evaluated.Results:The platelet distribution width (PDW) (17.3 ± 0.40 vs 16.1 ± 0 .5; p < 0.05), NLR (3.2 ± 1.3 vs 2.2 ± 0.9; p < 0.05) and red cell distribution width (RDW) (14.3 ± 1.3 vs 13.1 ± 1.1; p < 0.05) were significantly higher in the MB group than in the control group.Conclusions:This study demonstrated that compared to normal coronary arteries, PDW, NLR and RDW were significantly higher in MB patients. Further studies are needed to clarify the increased inflammatory parameters in patients with MB.

Testicular tumors of adrenogenital syndrome: From physiopathology to therapy

Testicular tumor of adrenogenital syndrome is a rare and benign anomaly usually presenting as bilateral testicular masses. It is the most important cause of infertility in adult male congenital adrenal hyperplasia. Distinction between testicular tumors of adrenogenital syndrome and Leydig cell tumors can be problematic; it is based on clinical, histopathologic, immunohistochemical and endocrine features. Biopsy is advised in cases of longstanding tumors in infertile patients and when surgery is indicated. Fertility preservation is a key management goal in testicular tumor of adrenogenital syndrome. In stages2 and 3, intensified glucocorticoid treatment is recommended as a first step treatment. Sparing surgical approach is preferred for tumors of stage4 and steroid unresponsive masses. Magnetic resonance imaging is recommended before surgery. The only indication of surgery in stage5 is testicular pain.