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This review describes the definitions of sedentary used to screen community dwelling adults in physical-activity-intervention trials published from 2000 to 2005. Results of 42 trials showed that definitions of sedentary varied from <20 to <150 min/week of physical activity, and few reported the type (work, household, or leisure) or intensity of activity that was used to screen participants. The range of “sedentary” samples makes it difficult to compare trial results or generalize findings. Published reports of exercise trials would be more useful to practitioners and researchers if they included an explicit description of the cut point used to define sedentary adults in the sample, in terms of maximum minutes or days per week of activity and the wording of the screening measure in terms of type and intensity of activity. [ABSTRACT FROM AUTHOR]

Background Infectious aneurysm is a rare complication in intracranial aneurysm. Moreover, giant aneurysm is a rare entity in intracranial aneurysm. In the great majority of infectious intracranial aneurysms, vasculitis and/or endocarditis is associated. Case Description Here, we report the case of an 83-year-old man who developed a giant infectious intracranial aneurysm on the anterior communicating artery. This patient had never shown any intracranial bleeding. A surgery was performed, and purulent liquid and aneurysm wall were removed during procedure. The bacteriologic analyses reported Campylobacter fetus. Conclusions This bacterium seems to be more and more frequent in North America and Europe, according to the current literature. Moreover, cases of mycotic extracranial aneurysm were reported. Here we report the first case of intracranial giant infectious aneurysm in an adult patient, without any endocarditis or vasculitis. This new entity could be the cause of a bacterial graft on an asymptomatic giant preexisting intracranial aneurysm or a consequence of campylobacteriosis. Highlights • Campylobacter is more and more frequent in North America and Europe. • Campylobacter is a bacterium with a vascular tropism. • This germ seems to induce intracranial aneurysms. • Extracranial aneurysms were also reported due to campylobacteriosis. [ABSTRACT FROM AUTHOR]

Background Moyamoya disease (MMD), arterial venous malformations (AVMs), and intracranial aneurysms are distinct cerebrovascular disease processes that most commonly occur in isolation. The literature on the treatment algorithm of each individual condition is well established. An association between MMD and intracranial aneurysms is also known, but MMD in association with AVM is rare. Case Descriptions The authors discuss various dilemmas in the multimodality management of these conditions when they coexist with an illustrative case of a 46-year-old woman who presented following a stroke, with 1) left-sided MMD, 2) left-sided frontal AVM, and 3) an aneurysm arising from the A1 segment of the right anterior cerebral artery. These were managed respectively by 1) the left external carotid artery to M2 segment of middle cerebral artery bypass using an autologous radial artery graft and left indirect superior temporal artery—encephaloduroarteriosynangiosis, 2) stereotactic radiosurgery, and 3) endovascular coiling of the aneurysm. Three years following intervention, cerebral angiography showed a patent bypass, complete obliteration of the AVM, and no residual filling of the coiled aneurysm. Conclusions Our strategy of surgical revascularization for MMD, radiosurgery for AVM, and endovascular coiling for aneurysm resulted in a positive long-term clinical outcome. In view of the rarity of the condition, the authors propose a management algorithm for such patients. Highlights • Moyamoya disease leads to cerebrovascular steno-occlusion and collateral formation. • Moyamoya disease with both arterial venous malformation and aneurysm is rare. • In our report, we separately managed all 3 disease processes in 1 patient. • We propose a treatment algorithm, based on presenting features, for such cases. [ABSTRACT FROM AUTHOR]

Objective To assess outcomes and complications of stereotactic radiosurgery treatment for trigeminal schwannoma (TS). Methods A retrospective analysis was performed to describe the presentation and outcomes of patients undergoing Gamma Knife radiosurgery (GKRS) for TS. Clinical, radiographic, and stereotactic radiosurgery dose plans were reviewed. Descriptive statistics and univariate analysis were performed to identify factors associated with poor tumor control. Results A total of 22 patients with TS were treated with GKRS between 1990 and 2018. One patient had a history of neurofibromatosis type II. Of the study population, 81% underwent GKRS as a first-line treatment. The average tumor volume was 3.3 cm3 and the average margin treatment dose was 14.1 Gy. The median clinical and radiographic follow-up period were 18.5 and 27 months, respectively. Tumor control was achieved in 17 patients (77.3%). Symptomatic improvement was noted in 8 patients (42.1%). Tumor expansion was observed in 7 patients (31.8%) and was associated with poor tumor control at last follow-up (P < 0.05). Patients who developed transient tumor expansion had higher margin doses (14.9 ± 1.1 Gy) compared with patients who did not have expansion (13.6 ± 1.3 Gyk P < 0.05). Conclusions GKRS provides effective control for most TS. Increased margin doses are associated with tumor expansion, which was a poor prognostic event associated with progression and clinical decline. Based on these results, combined with analysis of available data from other series of TS treated with GKRS, we believe that margin dose between 13 and 14 Gy offers a high probability of tumor control, yet minimizing risk of adverse radiation effects. Highlights • Control of trigeminal schwannoma was achieved in 77% of patients with gamma knife. • Transient tumor expansion was associated with margin dose >14 Gy. • Patients with margin doses <14 Gy had fewer adverse effects with good tumor control. • Literature review indicates that margin doses between 13 and 14 Gy are likely optimal. [ABSTRACT FROM AUTHOR]

Background Juvenile xanthogranuloma (JXG) is a rare, non-Langerhans cell histiocytic disorder that primarily presents as multiple cutaneous lesions in young males. Solitary lesions in the spinal column are an especially rare presentation of this disease, and central nervous system involvement can portend a poor prognosis. We report an unusual case of an adult woman with an unresectable JXG of the lumbar spine. A review of the reported cases of thoracolumbar JXG and the current data regarding diagnosis and treatment are presented. Case Description A 28-year-old woman presented with back pain and worsening lower extremity pain, numbness, and weakness. Magnetic resonance imaging demonstrated an enhancing lumbar mass. However, at surgery, no discrete mass was identified. Multiple roots were grossly enlarged, and electrical stimulation identified the L4 root with the most abnormal findings. Despite an attempt at debulking, most of the mass could not be safely removed. The patient experienced incomplete improvement of the symptoms postoperatively but elected to forgo chemotherapy. The 3-month follow-up imaging study showed active lumbar spinal disease, and imaging and follow-up examinations at 27 months revealed no changes. Her symptoms were satisfactorily controlled with conservative therapy. Conclusions JXG of the spine is a rare disease with nonspecific clinical and radiographic findings that can make it difficult to diagnose and dictates the use of immunohistochemical staining. If possible, total surgical resection will offer the best outcomes; however, other modalities such as chemotherapy can be viable alternatives or adjuvant modalities. Highlights • JXG are rare, non-Langerhans cell histiocytic lesions that primarily present as multiple cutaneous lesions in young males. • Solitary lesions in the spinal column are an especially rare presentation of JXG. • Treatment strategies have varied and depend on the resectability of the tumor, because complete resection can be curative. • Poorly accessible tumors require aggressive systemic therapy including corticosteroids and vinca alkaloids and/or radiation. • The efficacy of the treatments has not yet been clearly established. [ABSTRACT FROM AUTHOR]

Background Myelocystoceles, which are classified as closed neural tube defects, are usually covered by skin and rarely complicated by hydrocephalus. We encountered an unusual case of a terminal myelocystocele with hydrocephalus with clinical characteristics of a myelomeningocele. Case Description Severe hydrocephalus and a lumbosacral lesion were detected in the fetus of a gravid 34-year-old woman. Cesarean section was performed at 37 weeks. The neonate presented with a lumbosacral mass with a partial skin defect. As myelomeningocele was suspected, the neonate underwent surgery on the day of birth. The intraoperative findings pointed to a myelocystocele rather than a myelomeningocele. After insertion of a ventriculoperitoneal shunt, the neonate was discharged without any neurologic deficits. Conclusions Presence of skin abnormalities, hydrocephalus, and lumbosacral mass strongly suggests a diagnosis of myelomeningocele. However, such cases should be differentiated from myelocystocele, especially when associated with severe hydrocephalus. Highlights • A case of a terminal myelocystocele with clinical characteristics of a myelomeningocele is reported. • Skin defect, hydrocephalus, and lumbosacral mass strongly suggest the presence of a myelomeningocele. • Myelocystocele should be differentiated from myelomeningocele, especially when it is associated with severe hydrocephalus. [ABSTRACT FROM AUTHOR]

Objective Type II odontoid fractures of the axis (C2) account for more than 20% of all cervical fractures. If an odontoid screw is contraindicated, the treatment approach for type II C2 fractures typically involves C1–C2 posterior fusion or occipito-cervical (O-C) fusion, each of which has distinct advantages and disadvantages. In this study, postoperative outcomes of C1–C2 fusion and O-C fusion for high cervical fractures were compared. Methods The American College of Surgeons National Surgical Quality Improvement Program database was queried to determine 30-day surgical outcomes of posterior C1–C2 fusion versus O-C fusion for adult patients with C2 fractures between 2005 and 2016. Demographics, operative factors, and postoperative events were analyzed, including returns to the operating room, readmission, and death. Results In total, 165 patients were identified. A majority of the patients (142, 86.1%) had independent functional status, although 133 (80.6%) had an American Society of Anesthesiologists classification ranging from 3 to 5, representing poor preoperative health. A significantly greater proportion of O-C (9.1%) versus C1–C2 fusion (1.7%) returned to the operating room (odds ratio 6.465, confidence interval 1.079–38.719, P = 0.041). The length of operation approached statistical significance (P = 0.053) between the 2 groups, with O-C fusion group having a longer average length of operation (196.4 minutes) versus the C1–C2 group (164.0 minutes). Conclusions This study provides a snapshot of the risk profiles of C1–C2 and O-C fusion for C2 fracture, demonstrating a statistically higher risk of reoperation in O-C fusion versus C1–C2 fusion. Future randomized trials are needed to identify the preferred technique to improve patient outcomes. Highlights • The study compares C1–C2 posterior fusion versus O-C fusion is used for C2 fractures. • O-C fusion had statistically significant increase in return to the operating room. • Patients undergoing O-C fusion had a longer average operation time. [ABSTRACT FROM AUTHOR]

Background Hemodynamics plays an important role in the natural history of intracranial aneurysms. However, it is difficult to obtain longitudinal aneurysm image data. In this study, we had a rare chance to follow the process of growth and rupture of a middle cerebral artery (MCA) aneurysm. The aim of this study was to investigate the role of hemodynamics for growth and rupture in this particular aneurysm patient. Methods A 57-year-old woman presented with 2 unruptured MCA aneurysms and 1 ruptured anterior choroidal artery (AchA) aneurysm. The unruptured left MCA aneurysm grew in 7 months and ruptured at 11 months. The rupture region was confirmed during the clipping treatment. Computational fluid dynamic (CFD) simulations were conducted on the AchA and MCA aneurysms in 3 serial imaging procedures, and calculated hemodynamics was correlated with aneurysm growth and rupture. Results The ruptured right AchA aneurysm had much lower wall shear stress (WSS) and higher oscillatory shear index (OSI) than the unruptured left MCA aneurysm. Comparison of the aneurysm growth region with the WSS distribution showed that growth occurred in a high WSS area. During the progression of the MCA aneurysm, we observed that the high aneurysmal WSS region grew first and then the growing region changed into a low WSS level; eventually, rupture occurred in a low WSS area. Conclusions This case suggests that aneurysm rupture might be associated with low WSS and high OSI, whereas aneurysm growth may be related to high WSS in this particular individual MCA aneurysm patient. Highlights • The ruptured right AchA aneurysm has much lower WSS and higher OSI than the unruptured left MCA aneurysm. • By comparing aneurysm growth region with WSS distribution, growth occurred in high WSS area. • The left MCA aneurysm grew in high WSS region and eventually rupture occurred in same region with low WSS. [ABSTRACT FROM AUTHOR]

Objective The incidental dural tear is a common complication in lumbar spine surgery. It has been reported that the incidence of dural tears is much greater in endoscopic procedures. Primary closure via suturing remains challenging in endoscopic procedures. The objective of this study was to conduct a literature review on the surgical technique for dural closure and repair in endoscopic spine surgery. Methods A systematic literature search was performed using the database PubMed. In total, 12 studies reported specifically about the surgical treatment for dural tear in percutaneous and tubular assisted endoscopic technique. The dural tear rate, the technique of dural closure, postoperative time of bed rest, postoperative symptoms related to cerebrospinal fluid fistula, and revision surgery were assessed. Results The overall rate of dural tears in endoscopic spinal surgery was 2.7%, with a range from 0% to 8.6%. The incidence of a dural tear was much greater in cases with lumbar stenosis (3.7%) than in lumbar disc herniation (2.1%). The greatest rate was accompanied by resecting synovial cysts. In addition, the risk of dural tear is greater in bilateral decompression procedures via a unilateral approach. There is no consensus about the ideal technique for dural closure in endoscopic procedures. Furthermore, there is a debate whether dural tear requires surgical treatment or not. Conclusions An autologous muscle or fat graft in combination with fibrin glue or a fibrin-sealed collagen sponge seems to be a good and safe method for the management of dural tear in lumbar endoscopic spine surgery. Highlights • The overall dural tear rate in endoscopic spine surgery is 2.7%. • Endoscopic closure of dural tears is feasible, and successful closure via fat and autologous muscle grafts has been reported. • Less than 2% of all cases required an open procedure after endoscopic dural tear closure. [ABSTRACT FROM AUTHOR]

The challenges faced by case managers when implementing case management have received little focus. Several qualitative studies have been published that may be able to shed light on those challenges. This study is a systematic review of qualitative literature to identify barriers case managers have when implementing case management. Five electronic bibliographic databases were systematically searched, and 10 qualitative studies were identified for inclusion in the review which were published from 2007 to 2016. Through thematic synthesis of findings, five themes were identified as barriers to case management implementation: unclear scope of practice, diverse and complex case management activities, insufficient training, poor collaboration with other health-care providers, and client relationship challenges. This review study suggested that standardized evidence-based practical protocols and certification programs may help overcome case managers’ barriers and improve case management practices. Health policymakers, case management associations, and health-care management researchers should develop educational and practical supports for case managers. [ABSTRACT FROM AUTHOR]

Endometrioid carcinoma is the most common histological type of uterine endometrial cancer and particularly dedifferentiated endometrioid carcinomas (DEC) are less commonly observed. Silva et al. reported the biological features of UC based on the undifferentiated component of DEC, although the component represented only 20% of undifferentiated carcinoma. In this study, we report two cases of DEC with different presentation. Case 2 presented with the invasion to the bladder, rectum, and LN metastases. In contrast, the tumor in case 1 advanced into the endometrial cavity, similar to an endometrial polyp, without myometrial invasion. Hence, the diagnosis was established early. While we strive to improve the diagnosis of DEC, it is also crucial to better assess the prognosis and the appropriate treatment for the patients with established diagnosis of DEC. [ABSTRACT FROM AUTHOR]

Sertoli-Leydig cell tumours of the ovary (SLCT) are rare tumours predominantly caused by mutations in the DICER1 gene. We present a patient with a unilateral SLCT who had an underlying germline DICER1 gene mutation. We discuss the underlying pathology, risks, and screening opportunities available to those with a mutation in this gene as SLCT is only one of a multitude of other tumours encompassing DICER1 syndrome. The condition is inherited in an autosomal dominant fashion. As such, genetic counselling is a key component of the management of women with SLCT. [ABSTRACT FROM AUTHOR]

The Abscopal effect is a rare phenomenon observed in the treatment of metastatic cancer, where localized irradiation causes a response in non‑irradiated tumor sites. Due to the recent success of immunotherapies, the Abscopal effect of radiation therapy has received renewed clinical interest. However, there is limited knowledge regarding the Abscopal effect and radiotherapy treatment of patients with esophageal carcinoma. The present study reports the case of a 65‑year‑old male patient, who presented with esophageal carcinoma and lymph node metastasis. A transthoracic esophagectomy with left cervical, mediastinal and abdominal lymphadenectomies was performed. A total of 4 cycles of chemotherapy and maintenance therapy with Pembrolizumab was performed until September 2016. Metastases in the left retroperitoneal lymph node in addition to extensive metastases to the pelvic lymph node were observed. The patient received Cyberknife radiotherapy with a dose of 42 Gy in 6 daily fractions targeted at the left retroperitoneal lymph node. Two months after radiation therapy, a positron emission tomography‑computed tomography scan revealed complete regression of all lymph node metastases. There is increasing clinical evidence supporting the efficacy of the Abscopal effect, which may be initiated by high‑dose radiation. Further research is required to make the Abscopal effect clinically relevant, however it may have potential as a treatment option. [ABSTRACT FROM AUTHOR]

Hepatocellular carcinoma (HCC) has a poor prognosis due to its asymptomatic onset and susceptibility to metastasis. The survival of patients with advanced HCC is 6‑12 months. As a first‑line medicine for the control of hepatitis B virus, interferon (IFN) is also capable of inhibiting tumor growth and modulating immunity. However, treatment of HCC with lung metastasis using IFN has been rarely reported. The present study reports the case of one patient with HCC having lung metastasis who underwent a one‑time treatment with transcatheter arterial chemoembolization (TACE) and was subsequently completely cured by single peginterferon α 2a (PEG‑IFNα2a); and has survived up to 108 months. A 53‑year‑old male patient diagnosed with HBV‑related HCC with lung metastasis underwent TACE using floxuridine (FUDR) 500 mg, cisdiamine dichloroplatinum (CDDP) 20 mg, mitomycin 10 mg, and ultrafluid lipiodol 10 ml, together with local thoracic aorta chemotherapy using FUDR 250 mg and CDDP 20 mg. His metastatic lung cancer aggravated. However, after 9 months of treatment with subcutaneous injections of PEG‑IFNα 2a once per week, the metastatic lung foci gradually shrunk until disappearance and the HCC lesion stabilized without progression. According to the World Health Organization criteria for the efficacy of solid tumors, this was a case of complete response. Upon follow‑up up to 108 months his metastatic lung cancer had disappeared and HCC did not recur. Therefore, IFN intervention may be an appropriate novel adjuvant therapy for patients with HCC with lung metastasis and requires further attention and study. [ABSTRACT FROM AUTHOR]

Objectives: To investigate current practices and perceptions of imaging in necrotising enterocolitis (NEC) according to involved specialists, put them in the context of current literature, and identify needs for further investigation.Methods: Two hundred two neonatologists, paediatric surgeons, and radiologists answered a web-based questionnaire about imaging in NEC at their hospitals. The results were descriptively analysed, using proportion estimates with 95% confidence intervals.Results: There was over 90% agreement on the value of imaging for confirmation of the diagnosis, surveillance, and guidance in decisions on surgery as well as on abdominal radiography as the first-choice modality and the most important radiographic signs. More variation was observed regarding some indications for surgery and the use of some ultrasonographic signs. Fifty-eight per cent stated that ultrasound was used for NEC at their hospital. Examination frequency, often once daily or more but with considerable variations, and projections used in AR were usually decided individually rather than according to fixed schedules. Predicting the need of surgery was regarded more important than formal staging.Conclusion: Despite great agreement on the purposes of imaging in NEC and the most important radiographic signs of the disease, there was considerable diversity in routines, especially regarding examination frequency and the use of ultrasound. Apart from continuing validation of ultrasound, important objectives for future studies include definition of the supplementary roles of both imaging modalities in relation to other diagnostic parameters and evaluation of various imaging routines in relation to timing of surgery, complications, and mortality rate.Key Points: • Imaging is an indispensable tool in the management of necrotising enterocolitis • Predicting the need of surgery is regarded more important than formal staging • There is great consensus on important signs of NEC on abdominal radiography • There is more uncertainty regarding the role of ultrasound • Individualised management is preferred over standardised diagnostic algorithms. [ABSTRACT FROM AUTHOR]

Introduction Behçet disease (BD) is a systemic vasculitis involving vessels from any size with various clinical features. Most BD cases are multifactorial and associated with the HLA B51 antigen. In rare and severe early onset cases, dominant Mendelian transmission has been linked to mutations in the TNFAIP3 gene encoding A20. Herein, we propose a systematic review of the literature about the haploinsufficiency A20 (HA20) published cases. Systematic review Our review of the 45 cases of HA20 from literature highlights the similarities and the differences between this genetic auto-inflammatory disease and classical BD. HA20 looks like BD if we consider recurrent oral (87%) and genital (67%) ulcers, arthralgia or arthritis (42%), skin involvement (53%) such as erythema nodosum or abdominal symptoms (60%) such as abdominal pain, digestive ulcers or diarrhea. However, HA20 differs from classical BD because its geographical distribution is ubiquitous, sex ratio is inversed (one man for two women), first symptoms occur in early childhood (median age = 5.5 years; interquartile range: 1–10) instead of adulthood, recurrent fever is common (62%) unlike classical BD, HLA B51 antigen is uncommon and abdominal symptoms are over-represented compared to classical BD. In addition, response to colchicine in HA20 is inconstant (24%) unlike classical BD. Discussion/conclusion High fever flares and digestive involvement starting in early childhood seem to be hallmarks of HA20 clinical features. Response to colchicine is unpredictable and biotherapies like anti-TNFα and anti IL1 appear to be treatments of choice, like for other auto-inflammatory diseases. Prospective description of larger cohort of HA20 cases is needed to understand better when this disease must be looked for and how to treat these patients. [ABSTRACT FROM AUTHOR]

We report here on the first family with short stature and Silver-Russell-like phenotype due to a microdeletion in 12q14.3. The Netchine-Harbison clinical scoring system was used for the clinical diagnosis of Silver-Russell syndrome (SRS). The three affected first-degree relatives (index patient, mother and brother) presented with prenatal and postnatal growth retardation, feeding difficulties, a prominent forehead and a failure to thrive, but did not show relative macrocephaly. In addition, our index patient showed dysmorphic facial features, periodically increased sweating, and scoliosis. Learning problems and cardiac arrhythmia presented as additional features of her brother. Using high-resolution array-CGH, heterozygosity for a 1.67 Mb deletion in 12q14.3 was detected in the index patient. The heterozygous loss was confirmed by MLPA in the index patient and the other two affected family members. The deletion includes the genes HMGA2, LLPH, TMBIM4, IRAK3, HELB, GRIP1, and the pseudogene RPSAP52 . We conclude from these results and from the data of other patients reported in the literature that haploinsufficiency of HMGA2 leads to the short stature in this family. [ABSTRACT FROM AUTHOR]

We are reporting the case of a woman who was admitted acutely to our intensive care unit without any collateral history. She was diagnosed with posterior reversible encephalopathy syndrome (PRES) as a consequence of poor adherence to anti-hypertensive, anti-diabetic and anti-retroviral medications. PRES is a rare condition, which may cause cortical blindness; contrary to its name it is not always reversible. Rapid diagnosis and aggressive management of underlying causes facilitate reversibility of PRES. We also summarise the literature on patients with HIV and PRES. [ABSTRACT FROM AUTHOR]

Hyponatremia is a potentially serious electrolyte abnormality observed in neuromyelitis optica spectrum disorders (NMOSDs), and its most common cause is syndrome of inappropriate antidiuretic hormone secretion (SIADH). Another potential cause of hyponatremia is cerebral salt‐wasting syndrome (CSWS), although CSWS has not previously been reported in NMOSDs. Accurate and early differentiation between SIADH and CSWS is difficult. However, the two conditions have important implications for the selection of therapy. Here, we describe two patients with aquaporin‐4 antibody (AQP4‐Ab)‐positive NMOSDs who developed hyponatremia as a result of CSWS and SIADH, respectively. Additionally, we review all previously reported studies of hyponatremia in patients with NMOSDs and propose several potential pathophysiological mechanisms of hyponatremia. In conclusion, NMOSDs accompanied by hyponatremia are not actually rare, but have previously been given little attention. Furthermore, SIADH should not be the only consideration, before the exclusion of rare but significant CSWS. [ABSTRACT FROM AUTHOR]

Abstract Obstructive sleep apnea is a chronic disease characterized by the appearance of apnea or hypopnea episodes during sleep. This condition is associated with several risk factors. Among them, the most important is obesity and it is the only potentially curable. The treatment is polimodal and it involves several therapeutic directions. The purpose of this paper is to establish the role of obesity in the etiology of sleep apnea, as well as the role of the weight loss in its management, both through intensive lifestyle interventions and surgical therapy. [ABSTRACT FROM AUTHOR]

Background: Disseminated superficial actinic porokeratosis (DSAP) is characterized by asymptomatic multiple papules with annular keratotic rim distributed symmetrically on the sun-exposed areas. Many approaches have been proposed in the past for treating DSAP, but the therapy is still a challenge for every physician, mostly because of the frequent relapses of the disease and the multiplicity of the skin lesions. Material and Methods: Two case reports were reported emphasizing the challenges of treatment approach. Therefore, a systemic English literature review was conducted searching Medline database using PubMed Central and Ovid software as search interface to collect evidence based on the various treatment modalities for DSAP. Results: The initial search yielded 146 articles, but only the relevant case reports, case series and studies relating to the treatment of DSAP have been described and summarized in a table. For each different therapy the efficacy of each treatment, side effects, cost-effectiveness and authors' recommendations were reported. Conclusion: Several factors need to be considered prior to physicians' decision of the most appropriate treatment for each patient like age, the extent of body surface area involvement, patients' medical history and social situation, the available resources, the side effects and cost-effectiveness of each treatment. However, l the exact value of each treatment is difficult to determine owing to the lack of controlled studies evaluating their efficacy. Due to few incidences of squamous cell carcinoma, patients need to be followed up and monitored closely for any early detection of recurrence or possible onset of malignancies. [ABSTRACT FROM AUTHOR]

Relapsing polychondritis (RP) is an autoimmune disorder that often occurs concomitantly with other autoimmune diseases, though RP has been infrequently associated with ankylosing spondylitis (AS). There is a small, but growing, body of the literature demonstrating case reports describing RP secondary to AS in patients treated with tumor necrosis alpha inhibitors (TNFi’s). We present the first case in which RP developed in AS while treated with an interleukin 17A inhibitor (IL-17Ai), secukinumab. With this case report, we hope to raise physician awareness of the possible autoimmune disorders that may arise subsequent to novel immunomodulation therapies, particularly that RP may develop subsequent to inhibition of IL-17A. [ABSTRACT FROM AUTHOR]

As the rate of cesarean sections continues to rapidly rise, knowledge of diagnosis and management of cesarean scar pregnancies (CSPs) is becoming increasingly more relevant. CSPs rest on the continuum of placental abnormalities which include morbidly adherent placenta (accreta, increta, and percreta). A CSP poses a clinical challenge which may have significant fetal and maternal morbidity. At this point, no clear management guidelines and recommendations exist. Herein we describe the case of a second trimester CSP with rapid diagnosis and management in a tertiary care center. The case underscores the need for well-coordinated mobilization of resources and a multidisciplinary approach. A review of the literature is performed and deficits in universal management principles are underscored. [ABSTRACT FROM AUTHOR]

Endometrial polyps exceeding 4 centimeters in length are exceedingly rare and are termed “giant polyps.” We describe two patients that presented to our hospital with giant endometrial polyps. Clinical implications and oncologic potential of giant endometrial polyps are discussed. Risk factors of oncologic transformation include advanced age, menopausal status, obesity, diabetes, arterial hypertension, use of tamoxifen, and size greater than 1.0 centimeter. A literature review of all documented cases of giant endometrial polyps is presented and management strategies for counseling and polypectomy are reviewed. [ABSTRACT FROM AUTHOR]

Abstract: Background: Myoepithelial carcinoma is a rare salivary carcinoma, which most often arises from the major salivary glands. Only a few cases of myoepithelial carcinoma of the nasopharynx have been reported, thus, the treatment guideline and prognosis remain undefined. Methods: We reported a case of nasopharyngeal myoepithelial carcinoma in a 31‐year‐old man. The tumor cells showed specific cell types and arrangements histologically, which were immunoreactive with myoepithelial markers. The patient received surgical excision with transpalatal approach. A literature review of previous cases was also presented. Results: The patient reflected residual tumor 4 weeks later. After concurrent chemoradiotherapy (CRT), the tumor reduced and remained stable without signs of progression. Conclusion: The nasopharyngeal mass with spindled, plasmacytoid, epithelioid, and clear cell types, was suggested to raise the suspicion of myoepithelial carcinoma in order to diagnose and treat early. The wide surgical excision followed by optimal adjuvant therapy might offer a mode of treatment with better survival results. [ABSTRACT FROM AUTHOR]

This systematic literature review focuses on the identification of risk and protective factors - sociodemographic, behavioral and structural - associated with orphans’ and vulnerable children’s (OVC) likelihood of being or becoming HIV infected to inform the development of a high-yield community screening tool to identify at-risk OVC and link them to HIV testing services. The review examines the state of the evidence regarding HIV risk, protective factors and screening for HIV testing, including algorithms used in OVC and youth community and clinical program settings to identify those already infected with HIV and those at risk of acquiring HIV. A total of 26 studies were found eligible for abstraction, encompassing 428,501 participants. The literature is sparse and inadequate related to screens for HIV testing among OVC, and only seven distinct screens were identified. Overall, it is clear that it is critical to identify children and youth most at risk of being HIV positive in community settings, while being mindful of risks associated with stigma and discrimination. Identifying these children and youth is critical to reaching the first and second UNAIDS targets - 90% of people living with HIV diagnosed and 90% of those with diagnosed HIV infection on treatment - and ultimately achieving viral suppression, leading to an AIDS-free generation. [ABSTRACT FROM AUTHOR]

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is characterized by recurrent episodes of inflammation with fever, abdominal pain, chest pain, rash, myalgia, arthralgia, conjunctivitis, and periorbital edema. This condition is a rare autosomal dominant disease that is strongly associated with heterozygous mutations in the tumor necrosis factor (TNF) receptor super family 1A (TNFRSF1A) gene. This condition is believed to be more common in Western countries than in Asian countries, and the AA amyloidosis rate for European countries is estimated to be 10%. Herein, we report the case of a 14-year-old girl with recurrent fever and arthralgia with inflammatory marker elevation for 10 years. After extensive investigation of the infectious etiology with negative results and similar phenomenon observed within her family, the diagnosis of TRAPS was made based on next-generation sequencing, which revealed a T50M mutation; she was also sensitive to corticosteroids. Although none of our TRAPS patients developed AA amyloidosis, we suggest the continual monitoring of urinalysis results and serum amyloid A concentrations during long-term follow-up. Moreover, we also reviewed the related literature and found no Asian patients who had developed AA amyloidosis. [ABSTRACT FROM AUTHOR]

IgG4-related disease (IgG4-RD) is a chronic and systemic disease that can involve multiple organs. The most commonly involved organs include the salivary glands, orbital adnexal structures, paranasal sinus, thyroid, lungs, breasts, aorta, pancreas, biliary ducts, kidneys, retroperitoneum, lymph nodes, prostate, pituitary, and endocranium. Due to increased disease research, several new site-specific nuances of IgG4-RD have been described. The authors have reviewed the recent literature and briefly summarize the infrequent organ involvement of IgG4-RD. [ABSTRACT FROM AUTHOR]

Thrombotic thrombocytopenic purpura (TTP) is a potentially lethal multisystem disorder which could be caused by autoimmune diseases. However, the concomitant occurrence of TTP and Sjögren’s syndrome (SS) is an extremely uncommon scenario, especially in male patients. A 56-year-old Chinese male was admitted for the appearance of diffuse ecchymosis. Then he gradually developed transient slurred speech, progressive confusion, agitation, extremity weakness, and fever. Laboratory investigations suggested anemia, thrombocytopenia, significantly increased lactic dehydrogenase, schistocytes in peripheral blood smear, and a disintegrin-like metalloproteinase with thrombospondin motif type 1 member 13 (ADAMTS13) activity deficiency with high inhibitor titers. TTP was thus diagnosed. The patient also had positive anti-nuclear antibody, anti-SSA, and anti-SSB; however, anti-double stranded DNA (dsDNA) was negative. These drove us to perform ocular and dental sicca evaluation and the finial diagnosis was TTP secondary to SS. Plasma exchange and corticosteroid therapy were effective to control TTP. Cyclophosphamide was subsequently added when the platelet count was stable. The total duration of corticosteroid and cyclophosphamide was 8 and 6 months, respectively. The patient recovered without relapse at 1-year follow-up. To our knowledge, this was the first case of SS initially presented as TTP in a male patient. The case also elucidated the importance of autoantibody screen in the workup of TTP and the benefits of adjunctive immunosuppressive therapy in relapse prevention. [ABSTRACT FROM AUTHOR]

This review summarizes the literature on QoL in early stage lung cancer patients who underwent surgery. PubMed and PsycINFO were searched. Twelve articles from 10 distinct studies were identified for a total of 992 patients. Five QoL measures were used. One study reported only on pre-surgical QoL, six only on post-surgical QoL and three studies reported on both pre- and post-surgical QoL. Timing for the administration of post-surgical QoL surveys varied. The literature on QoL in Stage I non-small-cell lung cancer patients is very sparse. Additional research is needed to explore the impact of different surgical approaches on QoL. [ABSTRACT FROM AUTHOR]

Although it is known that breast cancer can metastasize to many organ sites, metastasis to the uterus is uncommon and usually occurs during widespread metastatic disease. Lobular carcinoma is not the most common histological subtypes of breast carcinoma, but it is the most frequent histologic type that causes gastrointestinal, gynecological and peritoneal metastases. The main symptoms of the uterine metastasis depend on the anatomic involvement site. Abnormal uterine bleeding is by far the most important symptom. We highlight the importance of the follow up of patient with breast cancer. A rapid endometrial sampling for confirmation of the diagnosis, should be performed when the routine gynecological follow-up revealed any abnormality. We report two original observations of endometrium metastases of invasive lobular carcinoma of the breast which we detected during follow-up. [ABSTRACT FROM AUTHOR]

Purpose: To report anterior segment features in unclassified anterior segment dysgenesis with overlapping features of Axenfeld-Rieger syndrome and other developmental anomalies.Methods: This retrospective study included those with atypical or overlapping features in one or both eyes, which were identified as unclassified ASD. Typical ARS was defined as the presence of posterior embryotoxon with or without iris changes like stromal hypoplasia, corectopia, polycoria, or ectropion uvea with or without systemic features. Cases of ARS with overlapping features with other ASD, like aniridia (complete or incomplete absence of iris), iridocorneal endothelial (ICE) syndrome (beaten metal appearance of corneal endothelium), Peters anomaly, isolated trabeculodysgenesis (evidenced by Haab's striae, buphthalmos, and epiphora) in one or both eyes with other typical ARS features in the same or other eye were included and screened.Results: Of 56 cases of ARS seen over 10 years, a total of 17 eyes of 11 cases (M:F=9:2, unilateral n=3) with unclassified ASD were identified with a median age of patients of 28.45±17.75 years (range 6-30 years). All cases of unclassified ASD had the presence of focal atypical strands of non-progressive anterior synechiae extending from the iris mid-periphery to the cornea with no attachments to the Schwalbe's line in any case. Adjacent keratic precipitates or pigment were present in three eyes with focal beaten metal appearance in one eye. Three patients developed repeated episodes of anterior uveitis in one eye with stromal involvement seen in all cases, which responded to antiviral therapy.Conclusions: Atypical features like focal strands with differential corneal involvement and onset of viral uveitis in unclassified ARS suggest a possible viral etiology during different periods of eye development. [ABSTRACT FROM AUTHOR]

Introduction High-flow arteriovenous malformations (HF-AVMs) are congenital vascular malformations. Typical localizations include the face, oral cavity, and extremities. Due to the high recurrence rate of AVM after incomplete resection or embolization, a combination of both therapeutic modalities has become the preferred choice of treatment. Therefore, we have developed an interdisciplinary therapeutic treatment algorithm for facial HF-AVM and performed a systematic review of the literature. Patients and methods In a retrospective analysis, all patients who were treated using the interdisciplinary therapeutic treatment algorithm for facial HF-AVM between 10/2010 and 09/2014 were included in the study. Small HF-AVMs ( n = 2) without prior therapy and with clearly detectable arterial blood supply were treated by surgical monotherapy. Larger, previously unsuccessfully treated HF-AVMs and lesions with complex arterial blood supply were treated using a combined therapy ( n = 6). Combined therapy consisted of a preoperative embolization and a subsequent surgical resection 1–2 days later. If an extensive surgical reconstruction became necessary due to the size of the malformation, or the risk of recurrence was high due to the complex vascular anatomical situation, a second postoperative angiogram was performed to safely exclude a residual nidus, using a ‘second look’ prior to definitive wound closure ( n = 3). HF-AVMs that did not allow for curative therapeutic intervention due to their size and localization were treated by interventional monotherapy ( n = 1). Patients with suspicion of a primarily hormone-dependent growth during pregnancy were closely followed up clinically, following a ‘wait and see’ strategy ( n = 1). In addition, a systematic literature review was performed to analyze treatment outcomes and current standards. Results 13 patients with a mean age of 39 years were included in the analysis. Patients were followed up for a mean of 26.8 months (range 12–60 months). Combined treatment ( n = 9) was free of recurrence in all cases (100%) after a mean follow up of 30.3 months (range 12–60 months). Surgical monotherapy ( n = 2) was also successful in both cases. Non-curative, interventional monotherapy lead to significant decrease in symptoms and did not have to be repeated. A postpartum decrease of the tumor could be observed in the ‘wait and see’ group. However, at the end of the observational period, a hormone-independent growth occurred. Results were supported by findings of the review. Conclusion The treatment of HF-AVMs of the head and neck remains challenging due to high recurrence rates. In our cohort, following the Heidelberg treatment algorithm both surgical monotherapy and combined surgical and interventional therapy had very high success rates. For non-curative, symptomatic therapy, interventional treatment should be discussed in terms of the risk of growth induction of HF-AVMs. Findings from the literature concerning therapeutic strategies and success rates are in line with the developed Heidelberg treatment algorithm. However, a larger sample of patients will be necessary to prove the validity of this algorithm. [ABSTRACT FROM AUTHOR]

Facial reanimation provides patients affected by chronic facial paralysis a chance to regain basic human functions such as emotional expression, verbal communication, and oral competence for eating and swallowing, but there is still no consensus as to the best way to measure surgical outcomes. We performed a literature review to investigate the different functional outcomes that surgeons use to evaluate facial function after reanimation surgery, focusing on outcomes other than facial expressions such as speech, oral competence, and patient quality of life/satisfaction. A total of 37 articles were reviewed, with the majority reporting outcomes through subjective facial expression ratings and only 15 dealing with other functional outcomes. In particular, outcomes related to oral competence and speech were reported inconsistently. Facial reanimation patients would benefit from a unified movement to create and validate through consensus, an outcomes reporting system incorporating not only facial expression, but also oral competence, speech, and patient-reported quality of life, to enable global patient assessment. [ABSTRACT FROM AUTHOR]

Purpose The formations of second or more condylar heads are considered as rare anomalies. Fourteen multi-headed condyles (MHC) were presented; 13 of these were bifid mandibular condyles (BMC), whereas one exceptionally rare case was a trifid mandibular condyle (TMC). The TMC presented in this paper is the eighth case reported in the literature. In this paper, etiopathogenesis, types, and treatments are discussed. Materials and methods Patients were classified according to their status, etiologies, gender, functions of the mandible, interocclusal distances, pathological conditions, types, and treatment received. Results BMCs were classified into two groups: type I BMCs were nontraumatic, nonsymptomatic, mediolateral, presumably developmental, and characterized by shallow grooves. Type II BMCs were traumatic and may have two subgroups. The first group of type II BMCs were mediolateral and Y-shaped. The second group of type II BMCs were characterized by two separate and anteroposteriorly located condyles. Conclusion Treatment depended on patients' complaints. In this study, asymptomatic patients did not receive therapy, whereas patients with temporomandibular join internal derangement received medical treatment, and patients with ankylosis had surgical treatment. [ABSTRACT FROM AUTHOR]

Background. Verruciform xanthoma is an uncommon benign tumor, which exhibits a wide range of clinical patterns. The occurrence of the lesion in patients with immune-mediated mucocutaneous diseases may suggest a role of localized epithelial cell damage and chronic inflammation in its pathogenesis. Case Report. A case of verruciform xanthoma on the tongue of a 56-year-old female with oral lichen planus is reported. An asymptomatic pink-white lesion with a granular surface was observed in the left lateral lingual border, which was closely associated with a white plaque and striae. An incisional biopsy was performed, and histologically, epithelial projections in a verrucous pattern were observed. In the subepithelial connective tissue, aggregates of foamy cells that exhibited immunoreactivity for CD68 were noted. The final diagnosis was verruciform xanthoma. The mucosa adjacent to the lesion demonstrated histopathological features consistent with lichen planus. Conclusions. A total of twelve cases of oral verruciform xanthomas in patients with oral lichen planus including the present case have been reported in the literature. The clinician should be aware that verruciform xanthoma may mimic malignancy, and therefore, biopsy is required for definitive diagnosis to be established, especially when this tumor develops within conditions that show potential for malignant transformation. [ABSTRACT FROM AUTHOR]

Context: The incidence of colorectal cancer (CRC) in the past three decades in Iran has made it as a major public health burden. Aims: The aim of this study is to report the prevalence of KRAS and NRAS mutations in Iran and the correlation between KRAS mutation status with clinicopathological factors and survival. Materials and Methods: In a cross-sectional study, 144 patients were entered into the study based on the criteria. Age, sex, tumor site, grade, metastasis location, familial history, KRAS/NRAS status, and survival were checked for all patients, and the patients were followed for 1 year. DNA was extracted with FFPE QIAGEN kit and then polymerase chain reaction for amplification of gene segments of KRAS and NRAS genes. Results: The mean age at diagnosis was 52.9 years (range: 27-72 years) that 39.6% patients had age <50 years and 54.2% were men. KRAS mutation was significantly more in the patients with age ≥50 compared with KRAS wild type. Furthermore, the 6-month overall survival rate in KRAS mutation patients was significantly more than KRAS wild-type patients. Liver metastasis (72.9%) had the highest prevalence of metastasis in the patients, and Grade II with 64.6% had the most prevalence. Conclusions: The metastatic CRC was more prevalent in men than women, and the mean age varied around 50-60 years. The results showed that the present study had the highest prevalence of KRAS mutation in the Middle East and Pakistan with the lowest prevalence in CRC patients. [ABSTRACT FROM AUTHOR]

Pancreatic cancer is well known as a relentlessly progressive and fatal disease. Although distant metastasis is common at the time of diagnosis, brain metastasis originating from pancreatic cancer is rare and its clinical manifestation remains poorly described. Additionally, it is generally known that the prognosis for patients with pancreatic cancer and brain metastasis is very poor. Surgical resection of brain metastasis may play a limited role or may allow long-term survival in patients for whom the primary pancreatic cancer is well controlled. We present a case of brain metastasis in patient with pancreatic cancer after pylorus-preserving pancreaticoduodenectomy and complete response to chemotherapy for hepatic metastases. Brain metastasis was resected successfully, but survival period was relatively short, even though the patient received curative treatment for pancreatic cancer. This case demonstrated that resection of brain metastatic lesion from pancreatic cancer being controlled may be helpful, but the timing of resection is also important. [ABSTRACT FROM AUTHOR]

Hyperhidrosis o`ccurs when the body produces sweat beyond what is essential to maintain thermal homeostasis. The condition tends to occur in areas marked by high-eccrine density such as the axillae, palms, and soles and less commonly in the craniofacial area. The current standard of care is topical aluminum chloride hexahydrate antiperspirant (10-20%), but other treatments such as anticholinergics, clonidine, propranolol, antiadrenergics, injections with attenuated botulinum toxin, microwave technology, and surgery have been therapeutically implicated as well. Yet, many of these treatments have limited efficacy, systemic side effects, and may be linked with significant surgical morbidity, creating need for the development of new and effective therapies for controlling excessive sweating. In this literature review, we examined the use of lasers, particularly the Neodynium:Yttrium-Aluminum-Garnet (Nd:YAG) and diode lasers, in treating hyperhidrosis. Due to its demonstrated effectiveness and limited side effect profile, our review suggests that Nd:YAG laser may be a promising treatment modality for hyperhidrosis. Nevertheless, additional large, randomized controlled trials are necessary to confirm the safety and efficacy of this treatment option. [ABSTRACT FROM AUTHOR]

Extra-axial chordoma is a chordoma that occurs in non-axial locations. It is a very rare tumor, with 20 cases reported to date; 14 in bone and six in soft tissue. Of the 14 skeletal extra-axial chordomas, ten were intramedullary and four were intracortical. We report the first case of parosteal extra-axial chordoma arising in the second metacarpal bone, expressing brachyury on immunohistochemical analysis, and describe the pathologic and radiologic findings. We suggest that extra-axial chordoma can occur in parosteal bone lesions or the hand, without features of bone distribution or bone-specific sites. [ABSTRACT FROM AUTHOR]

Os talus secundarius is an extremely rare accessory ossicle located at the lateral aspect of the talus just anterior to the fibula. Although rarely seen, it may cause lateral-sided chronic ankle pain. Only a few cases of symptomatic os talus secundarius have been reported to date. Herein, a 42-year-old male patient with symptomatic os talus secundarius is presented, and its imaging findings, differential diagnosis, and treatment are discussed.Level Of Evidence: Level IV. [ABSTRACT FROM AUTHOR]

Primary hyperoxalurias (PH) are devastating, autosomal recessive diseases causing renal stones. Undifferentiated hyperoxaluria is seen in up to 43% of Pakistani paediatric stone patients. High rates of consanguinity in Pakistan suggest significant local prevalence. There is no detailed information regarding number of cases, clinical features, and genetics in Pakistan-origin (P-o) patients. We reviewed available information on P-o PH patients recorded in the literature as well as from two major PH registries (the Rare Kidney Stone Consortium PH Registry (RKSCPHR) and the OxalEurope PH Registry (OxER); and the Aga Khan University Hospital in Pakistan. After excluding overlaps, we noted 217 P-o PH subjects (42 in OxER and 4 in RKSCPHR). Presentations were protean. Details of mutations were available for 94 patients of 201 who had genetic analyses. Unique mutations were noted. Mutation [c.508G>A (p. Gly170Arg)] (present in up to 25% in the West) was reported in only one case. In one series, only 30% had mutations on exons 1,4,7 of AGXT. Of 42 P-o patients in OxER, 52.4% were PH1, 45.2% PH2, and 2.4% PH3. Of concern is that diagnosis was made after renal transplant rejection (four cases) and on bone-marrow aspiration (in five). Lack of consideration of PH as a diagnosis, late diagnosis, and loss of transplanted kidneys mandates that PH be searched for diligently. Mutation analysis will need to extend to all exons and include PH 1,2,3. There is a need to spread awareness and identify patients through a scoring or screening system that alerts physicians to consider a diagnosis of PH. [ABSTRACT FROM AUTHOR]

Short-term ureteric stents are commonly placed after ureteroscopy. The removal usually entails having a cystoscopy, but recently, endourologists have been using stents with extraction strings attached to them for ease of removal. We wanted to conduct a systematic review of literature looking at the outcomes of ureteric stents with extraction strings attached to them. Our objective was to investigate the use, morbidity, tolerability, complications, associated cost, and patient preference of stents with extraction strings attached to them. All studies in English language (between 1990 and 2015) where stents on extraction strings were either self-removed by patients or removed by physician were included. A total of eight studies (1279 patients) were included, of which 483 (38 %) patients had extraction strings for removal. There seemed to be no overall difference in pain scores or urinary symptoms between patients with and without extraction strings, but nearly 10 % of patients suffered stent dislodgement in the group with extraction strings attached. Overall stent dwell time was lower in patients who had their stents removed via extraction strings, and majority of them were able to remove their stents at home. Our study suggests that stents with extraction strings are easy for patient self-removal and can reduce the stent dwell time for patients, thus reducing the duration of morbidity and physical and financial burden to patients. However, this must be balanced against a risk of stent dislodgement and, hence, may not be a good option in all patients. [ABSTRACT FROM AUTHOR]

Fryns syndrome is a rare multiple congenital anomaly syndrome with incidence of 0.7-1 in 10,000 births. Characteristic features of this syndrome are congenital diaphragmatic hernia, lung hypoplasia, unusual facial features, limb defects and parental consanguinity. Here we report a case of Fryns syndrome of consanguineous parents at the gestation age of 27 week old. Mother presented to department of obstetrics and gynaecology with inability to perceive fetal movements. Ultasonography revealed polyhydramnios, intrauterine growth retardation, and congenital anomaly of diaphragm and absence of fetal heart sound. Based on ultrasound findings, clinical diagnosis of congenital diaphragmatic hernia was made for which therapeutic abortion was performed and a still born fetus was delivered which was sent for post mortem study. On autopsy, diagnosis of Fryns syndrome was made. [ABSTRACT FROM AUTHOR]

Synchronous ovarian tumours are rare. Management of these patients can differ from that of patients with uniform tumours. We present a case of synchronous epithelial ovarian cancer and malignant mixed Müllerian tumour in different ovaries, its follow-up and management until death. To our knowledge this is the second case in the English literature to date. A 61-year-old woman with bilateral adnexal masses underwent complete debulking surgery for ovarian cancer. The final pathology was reported as malignant mixed Müllerian tumour in the right ovary with intact borders and stage 2 grade 3 serous carcinoma in the left ovary. She had a 17-month disease-free interval after 6 cycles of paclitaxel and carboplatin. Recurrence of malignant mixed Müllerian tumour was reported in the pathology after secondary debulking including a partial ileal resection. After 6 cycles of gemcitabine and cisplatin she had a widespread recurrence in the thorax and abdomen. The patient died of disease recurrence at the 25th month after diagnosis. Coexistence of serous and malignant mixed Müllerian tumour in different ovaries is very rare. The main treatment is complete cytoreduction followed with chemotherapy. Platinum-taxane based chemotherapy resulted in an acceptable disease-free interval in our case, but it is not standard yet. A management protocol may be developed with the increasing number of similar cases in the literature. [ABSTRACT FROM AUTHOR]

Introduction: Mature cystic teratoma (MCT) is the most common type of ovarian germ cell neoplasm, but occasionally it may undergo malignant change in any one of its elements. In this study, these rarely encountered tumors, occurring over a period of 25 years, were studied. Material and methods: A retrospective, tertiary hospital-based study was carried out in all histopathologically diagnosed cases of MCT (230) of the ovary from January 1990 to December 2014. The clinicopathological features of malignant transformation (MT) in MCT of the ovary were retrieved from the archives of the Department of Pathology and were analyzed. Results: Two hundred thirty (230) mature cystic teratomas of the ovary were found. MT was noted in eight of these cases, i.e. 3.5% of all the MCT. The mean age of the patients with MCT was 32.5 ±13.11 while the mean age of the patients with malignant transformation in MCT was 44.2 ±8.94 years. Grossly the mean size of the malignant teratoma was 11.7 ±2.7 cm, whereas it was 7.6 ±2.1 cm for mature cystic teratoma. Squamous cell carcinoma (SCC) was the most frequent MT seen in four out of eight cases, while one case showed an adenocarcinoma and the other a malignant melanoma, and two cases had transitional cell carcinoma. Conclusions: The rate of malignant transformation in MCT increases with age and is much higher in the postmenopausal age group. Moreover, although SCC is still the commonest, transitional cell carcinoma (TCC) may also develop not infrequently as malignancy apart from other rare differentiations such as adenocarcinoma or malignant melanoma in an MCT. [ABSTRACT FROM AUTHOR]

Introduction Noninfective pneumonitis is a class-related effect within mammalian target of rapamycin (mTOR) inhibitors, including everolimus, and can occasionally be severe. Case Report A 62-year-old man, medicated with everolimus due to a heart transplantation 17 years previously and with chronic kidney disease, was admitted to the intensive care unit (ICU) with acute respiratory failure, cardiovascular shock, and impaired renal function requiring dialysis. Computed tomography (CT) scan revealed right upper lobe consolidation. Extensive microbiological workup, autoimmune testing, and cytology were negative and echocardiography showed preserved heart function. Everolimus levels were normal (5.7–6.1 ng/mL) and the drug was suspended at day 9. The patient was difficult to ventilate and responded poorly to broad-spectrum antibiotic and antifungal therapy. On day 25, CT scan and bronchoscopy revealed left-sided alveolar hemorrhage, and corticosteroid pulses were performed. The patient gradually improved. After discharge and 6 months of follow-up, clinical recovery was complete and chest imaging substantially improved. Discussion Pneumonitis occurs in up to 4.3% of transplant recipients using everolimus for immunosuppression. Despite usually presenting as a mild and self-limited disease, severe cases have been described. Alveolar hemorrhage can occur and is associated with poor outcome. Everolimus levels do not seem to accurately predict toxicity. Corticosteroid therapy has been used with success in severe disease. We review the pathophysiological, clinical, and management-related aspects of this entity with emphasis on its potential severity. Conclusion Our case was a rare occurrence of severe life-threatening pulmonary disease related to everolimus. Awareness of the potential severity of this entity is important for the management of patients using mTOR inhibitors. [ABSTRACT FROM AUTHOR]

Mucormycosis is an uncommonly encountered fungal infection in solid organ transplantation. The infection is severe and often results in a fatal outcome. The most common presentations are rhino-sino-orbital and pulmonary disease. We describe a rare case of gastric mucormycosis in a patient with a combined liver-kidney transplant affected by glycogen storage disease type Ia. A 42-year-old female patient presented with gastric pain and melena 26 days after transplantation. Evaluation with upper endoscopy showed two bleeding gastric ulcers. Histological examination of gastric specimens revealed fungal hyphae with evidence of Mucormycetes at subsequent molecular analysis. Immunosuppressive therapy was reduced and antifungal therapy consisting of liposomal amphotericin B and posaconazole was promptly introduced. Gastrointestinal side effects of posaconazole and acute T-cell rejection of renal graft complicated management of the case. A prolonged course of daily injections of amphotericin B together with a slight increase of immunosuppression favored successful treatment of mucormycosis as well as of graft rejection. At 2-year follow-up, the woman was found to have maintained normal renal and liver function. We conclude that judicious personalization of antimicrobial and antirejection therapy should be considered to resolve every life-threatening case of mucormycosis in solid organ transplantation. [ABSTRACT FROM AUTHOR]

Purpose. Desmoid-type fibromatosis is a benign fibrous neoplasia originating from connective tissue, fascial planes, and musculoaponeurotic structures of the muscles. Currently, there is no evidence-based treatment approach available for desmoid fibromatosis. In this article, a case of a patient in the pediatric age affected by desmoid fibromatosis localized in the orbit is presented. The aim of the article is to describe this unusual and rare location for the desmoid fibromatosis and outline the principle phases in the decision-making process and the therapeutic alternatives for a patient affected by desmoid fibromatosis. Methods. The protocol of this review included study objectives, search strategy, and selection criteria. The primary end point of this study was to analyze the head and neck desmoid fibromatosis. The secondary end point was to identify the available therapies and assess their specific indications. Results. The mean age of patients was 18.9 years ranging from 0 to 66, and 52% were female. A bimodal age distribution was observed, and two age peaks were identified: 0–14 years (57%) and 28–42 years (18%). The most common involved areas were the mandible (25%) followed by the neck (21%). In 86% of the cases, the treatment was the surgical resection of the disease, and only in 5% of the cases, the surgical resection was followed by adjuvant radiotherapy. Conclusion. The orbital location is extremely rare, especially in the pediatric population. The management of desmoid fibromatosis is based on the function preservation and the maintenance of a good quality of life, but in case of symptomatic patients or aggressive course of the disease or risk of functional damages, the surgical approach may be considered. Therapeutic alternatives to surgical resection are radiotherapy and systemic therapy. [ABSTRACT FROM AUTHOR]