Anatomical changes and audiological profile in branchio-oto-renal syndrome: a literature review

Introduction  Branchio-oto-renal (BOR) syndrome is an autosomal-dominant genetic condition with high penetrance and variable expressivity, with an estimated prevalence of 1 in 40,000. Approximately 40% of the patients with the syndrome have mutations in the gene EYA1, located at chromosomal region 8q13.3, and 5% have mutations in the gene SIX5 in chromosome region 19q13. The phenotype of this syndrome is characterized by preauricular fistulas; structural malformations of the external, middle, and inner ears; branchial fistulas; renal disorders; cleft palate; and variable type and degree of hearing loss. Aim  Hearing loss is part of BOR syndrome phenotype. The aim of this study was to present a literature review on the anatomical aspects and audiological profile of BOR syndrome. Data Synthesis  Thirty-four studies were selected for analysis. Some aspects when specifying the phenotype of BOR syndrome are controversial, especially those issues related to the audiological profile in which there was variability on auditory standard, hearing loss progression, and type and degree of the hearing loss. Mixed loss was the most common type of hearing loss among the studies; however, there was no consensus among studies regarding the degree of the hearing loss.

Inflammatory fibroid polyp (Vanek’s polyp): a case report and literature review

Inflammatory fibroid polyp (IFP) is a benign uncommon lesion (1%-4% of gastric benign lesions), originated from the submucosa of the gastrointestinal tract. Its origin is controversial and immunohistochemical studies of lesions have largely refuted the possible vascular, neural or smooth muscle origin. Recent studies suggest a neoplastic etiology due to a mutation, in some cases, in the alpha-type platelet-derived growth factor receptor gene (PDGFRa). Our objective is to report the case of a patient aged 70 years, with gastric IFP, comparing her immunohistochemical profile with those of other studies, and a brief review of the literature.

Osseous metaplasia of the endometrium associated with infertility: a case report and review of the literature

Abstract Introduction Endometrial ossification is an uncommon disease related to secondary infertility and its etiology and pathogenesis are controversial. More than 80% of reported cases occur after pregnancy. Case presentation A 33-year-old Caucasian woman was admitted with a history of secondary infertility and with a regular menstrual cycle. She reported a miscarriage at 12 weeks of gestation 7 years previously and subsequent dilatation and curettage in another medical facility. Vaginal ultrasound was performed and showed an intrauterine structure described as a hyperechogenic image suggesting calcification related to chronic endometritis. Office hysteroscopy revealed a wide endometrial cavity and proliferative endometrium, with a coral-like white plaque 1.5 cm in length on the right horn and posterior wall of the uterus. The lesion was treated by hysteroscopy without complications. Microscopic examination showed endometrial tissue with osseous metaplasia in the stroma. Nine months after the procedure, the patient became pregnant spontaneously. Conclusion In our patient, hysteroscopy was effective in the diagnosis and treatment of osseous metaplasia of the endometrium associated with infertility.

Redundant nerve roots of the cauda equina: review of the literature

In imaging diagnosis, redundant nerve roots of the cauda equina are characterized by the presence of elongated, enlarged and tortuous nerve roots in close relationship with a high-grade lumbar spinal canal stenosis. This is not an independent entity, but it is believed to be a consequence of the chronic compression at the level of the lumbar canal stenosis and thus may be part of the natural history of lumbar spinal stenosis. The present paper is aimed at reviewing the histopathological, electrophysiological and imaging findings, particularly at magnetic resonance imaging, as well as the clinical meaning of this entity. As the current assessment of canal stenosis and root compression is preferably performed by means of magnetic resonance imaging, this is the imaging method by which the condition is identified. The recognition of redundant nerve roots at magnetic resonance imaging is important, particularly to avoid misdiagnosing other conditions such as intradural arteriovenous malformations. The literature approaching the clinical relevance of the presence of redundant nerve roots is controversial. There are articles suggesting that the pathological changes of the nerve roots are irreversible at the moment of diagnosis and therefore neurological symptoms are less likely to improve with surgical decompression, but such concept is not a consensus.

[Primary malignant melanoma of the parotid gland: a case report and review of the literature]

Malignant melanomas (MMs) of the parotid gland are relatively uncommon. They occur almost invariably as metastases from a primary tumour located in the region of the scalp or the mucous membranes of the nose, paranasal sinuses, or throat. Primary MMs arising in the parotid gland are extremely rare. It is assumed that they originate in the glandular tissue or in intraglandular lymph nodes. We present a case report and review of the literature on the diagnosis, treatment, and prognosis of intraparotid malignant melanoma. Diagnosis is based primarily on B-scan ultrasonography and fine-needle aspiration cytology. Patients with a cytological diagnosis of MM are further evaluated by magnetic resonance imaging and positron emission tomography and receive a thorough ear-nose-throat and dermatological examination. The treatment of choice is total parotidectomy and selective neck dissection. The effectiveness of adjuvant treatments such as radiotherapy, chemotherapy, or immunotherapy remains controversial. Patients with primary MMs of the parotid gland appear to have a better prognosis than those with parotid metastases from melanomas of the skin or mucous membranes.

Lhermitte-Duclos disease with atypical vascularization--case report and review of the literature

OBJECTIVE: A case of Lhermitte-Duclos disease (LDD, dysplastic gangliocytoma) with atypical vascularization is reported. LDD is a rare cerebellar mass lesion which may be associated with Cowden's syndrome and the PTEN germline mutation. CASE MATERIAL: A 61-year-old male presented 15 years before with a transient episode of unspecific gait disturbance. Initial magnetic resonance (MR) imaging revealed a right-sided, diffuse, nonenhancing cerebellar mass lesion. No definitive diagnosis was made at that time, and the symptoms resolved spontaneously. 15 years later, the patient presented with acute onset of vomiting associated with headache and ataxic gait. MR imaging showed a progression of the lesion with occlusive hydrocephalus. The lesion depicted a striated pattern characteristic for LDD with T1-hypointense and T2-hyperintense bands, nonenhancing with contrast. After resection of the mass lesion, the cerebellar and hydrocephalic symptoms improved rapidly. The pathological examination confirmed the diagnosis of dysplastic gangliocytoma (WHO Grade I) with enlarged granular and molecular cell layers, reactive gliosis and dysplastic blood vessels. No other clinical features associated with Cowden's syndrome were present. CONCLUSIONS: This case illustrates that LDD with atypical vascularization is a slow-growing posterior fossa mass lesion which may remain asymptomatic for many years. Timing of surgical treatment and extent of resection in patients with LDD is controversial. The typical features on standard T1-/T2-weighted MR imaging allow a diagnosis without surgery in most cases. The authors believe that the decision to treat in these cases should be based on clinical deterioration.

Anterior Cruciate Ligament Injuries in Children and Adolescents: A Review of the Recent Literature

In contrast to the treatment of avulsion lesions of the anterior cruciate ligament (ACL) the management of intrasubstance ACL tears in the skeletally immature patient remains controversial. Prospective studies could show that conservative treatment results in severe instability with concomitant intraarticular damage and poor function of the knee. Reconstruction of a torn ACL always carries the risk of damaging the open growth plates; with consecutively affecting the longitudinal or axial growth of the lower extremity either on the femoral or the tibial side. Thus, several surgical procedures are available to prevent adverse events mentioned above. The purpose of this study is to review the recent literature regarding the treatment algorithm for ACL injuries in skeletally immature patients. This review will (1) investigate the indications for ACL surgery in children; (2) determine if a surgical procedure is clinically superior in skeletally immature patients; and (3) correlate the adverse events with the surgical technique.

State of the science on controversial topics: orthodontic therapy and gingival recession (a report of the Angle Society of Europe 2013 meeting)

BACKGROUND Controversy exists in the literature between the role of orthodontic treatment and gingival recession. Whilst movement of teeth outside the alveolar bone has been reported as a risk factor for gingival recession, others have found no such association. FINDINGS The Angle Society of Europe devoted a study day to explore the evidence surrounding these controversies. The aim of the day was for a panel of experts to evaluate the current evidence base in relation to either the beneficial or detrimental effects of orthodontic treatment on the gingival tissue. CONCLUSIONS There remains a relatively weak evidence base for the role of orthodontic treatment and gingival recession and thus a need to undertake a risk assessment and appropriate consent prior to the commencement of treatment. In further prospective, well designed trials are needed.

Facts and myths regarding the maxillary midline frenum and its treatment: a systematic review of the literature

OBJECTIVE To systematically review the current literature on the maxillary midline frenum and associated conditions and complications, as well as the recommended treatment options. METHOD AND MATERIALS A detailed MEDLINE database search was carried out to provide evidence about the epidemiology, associated pathologies, and treatment options regarding the maxillary frenum. Of the 206 initially identified articles, 48 met the inclusion criteria. RESULTS The maxillary frenum is highly associated with a number of syndromes and developmental abnormalities. A hypertrophic frenum may be involved in the etiology of the midline diastema. There is also a tendency by orthodontists to suggest posttreatment removal of the frenum (frenectomy). Studies on the cause of gingival recession due to the maxillary frenum are inconclusive. An injured frenum in combination with other traumas and doubtful history might point to child abuse. The involvement of hyperplastic frena in the pathogenesis of peri-implant diseases remains uncertain. There seems to be a clinical interest regarding lasers for surgery for treatment of maxillary frena. The superiority of laser treatment in relation to conventional surgical methods has not yet been demonstrated in the literature. CONCLUSION A maxillary frenum is a clinical symptom in numerous syndromic conditions and plays a role in the development of the median midline diastema. Nevertheless, the contribution to gingival recession and peri-implant diseases in the region of the maxillary incisors is rather controversial. Laser techniques are reported as the method of choice for the surgical removal of frena; however, this needs to be substantiated by appropriate prospective controlled studies.

Is clipping the preferable technique to perform sympathicotomy? A retrospective study and review of the literature

PURPOSE Thoracoscopic sympathetic surgery is nowadays a broadly accepted technique in the treatment of primary hyperhidrosis as well as facial blushing. The objective of this study was to compare the two currently most commonly used methods for thoracic sympathicotomy: transection (ETS) and clipping (ETC.). METHODS This is a retrospective study on a total of 63 patients, who underwent rib-oriented sympathicotomy, either by transection (n = 36, 57 %) or by clipping (n = 27, 43 %). Moreover, the up-to-date international literature is reviewed concerning which level(s) of the sympathetic trunk should be addressed, depending on the patients underlying condition. Furthermore, the highly controversial topic of reversibility of sympathetic clipping is debated. RESULTS Our results confirm that clipping is at least as effective as transection of the sympathetic chain in the treatment of hyperhidrosis and facial blushing. Furthermore, the analysis of all larger studies on unclipping in humans shows a surprisingly high reported reversal rate between 48 and 77 %. CONCLUSIONS Depending on the symptoms of the patient, different levels of the sympathetic chain should be addressed. When a higher rib level such as R2 is approached, which more likely will result in moderate to severe compensatory sweating, clipping should be preferred as it seems that this technique has indeed a potential for reversibility. As demonstrated, this method is at least as effective as an irreversible transection of the sympathetic chain.

Management of pelvic discontinuity in revision total hip arthroplasty: a review of the literature

Pelvic discontinuity is a complex problem in revision total hip arthroplasty. Although rare, the incidence is likely to increase due to the ageing population and the increasing number of total hip arthroplasties being performed. The various surgical options available to solve this problem include plating, massive allografts, reconstruction rings, custom triflanged components and tantalum implants. However, the optimal solution remains controversial. None of the known methods completely solves the major obstacles associated with this problem, such as restoration of massive bone loss, implant failure in the short- and long-term and high complication rates. This review discusses the diagnosis, decision making, and treatment options of pelvic discontinuity in revision total hip arthroplasty.

The evolution of the laws of software evolution. A discussion based on a systematic literature review

After more than 40 years of life, software evolution should be considered as a mature field. However, despite such a long history, many research questions still remain open, and controversial studies about the validity of the laws of software evolution are common. During the first part of these 40 years the laws themselves evolved to adapt to changes in both the research and the software industry environments. This process of adaption to new paradigms, standards, and practices stopped about 15 years ago, when the laws were revised for the last time. However, most controversial studies have been raised during this latter period. Based on a systematic and comprehensive literature review, in this paper we describe how and when the laws, and the software evolution field, evolved. We also address the current state of affairs about the validity of the laws, how they are perceived by the research community, and the developments and challenges that are likely to occur in the coming years.

Do tinted lenses or filters improve visual performance in low vision? A review of the literature

This is a review of studies that have investigated the proposed rehabilitative benefit of tinted lenses and filters for people with low vision. Currently, eye care practitioners have to rely on marketing literature and anecdotal reports from users when making recommendations for tinted lens or filter use in low vision. Our main aim was to locate a prescribing protocol that was scientifically based and could assist low vision specialists with tinted lens prescribing decisions. We also wanted to determine if previous work had found any tinted lens/task or tinted lens/ocular condition relationships, i.e. were certain tints or filters of use for specific tasks or for specific eye conditions. Another aim was to provide a review of previous research in order to stimulate new work using modern experimental designs. Past studies of tinted lenses and low vision have assessed effects on visual acuity (VA), grating acuity, contrast sensitivity (CS), visual field, adaptation time, glare, photophobia and TV viewing. Objective and subjective outcome measures have been used. However, very little objective evidence has been provided to support anecdotal reports of improvements in visual performance. Many studies are flawed in that they lack controls for investigator bias, and placebo, learning and fatigue effects. Therefore, the use of tinted lenses in low vision remains controversial and eye care practitioners will have to continue to rely on anecdotal evidence to assist them in their prescribing decisions. Suggestions for future research, avoiding some of these experimental shortcomings, are made. © 2002 The College of Optometrists.