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Background The scalpel sign is a radiological finding observed on sagittal magnetic resonance imaging and computed tomography myelography corresponding to an indentation in the dorsal aspect of the spinal cord resembling a surgical scalpel blade. It is said to be a pathognomonic imaging discovery linked to dorsal arachnoid webs. However, other spine-related conditions may mimic dorsal arachnoid webs on magnetic resonance imaging, such as spinal arachnoid cysts or ventral spinal cord herniation, leading to misdiagnosis. Methods A retrospective review was performed of cases involving 3 different diagnoses at our institution in the last 5 years that shared in common the characteristic focal dorsal indentation of the spinal cord. Results Of 7 cases identified, all but 1 were treated and confirmed intraoperatively. All lesions were located at the dorsal spinal cord. Magnetic resonance imaging was the study of choice for evaluation. Clinical manifestations included back pain and lower extremity numbness and weakness together with compressive myelopathy signs and urinary symptoms. Mean follow-up was 16.8 months with satisfactory postoperative results. Conclusions Isolated radiological presentation of the scalpel sign is not sufficient to distinguish between dorsal arachnoid webs, arachnoid cysts, and ventral herniation of the spine. However, awareness of its importance is relevant for accurate curative surgical planning.

An 83-year-old woman was referred to hospital with a 2-week history of short-lived episodic unpleasant sensations in her head and running down her body. This was accompanied by new short-term memory impairment and arm spasms. Initial investigations including blood tests and brain imaging did not reveal the diagnosis. The patient developed an increasing frequency of abnormal movements of her face and arm. These were clinically recognised as faciobrachial dystonic seizures (FBDS). FBDS are pathognomonic of an autoimmune encephalitis caused by an antibody directed against leucine-rich glioma-inactivated 1 (LGI1). The clinical diagnosis resulted in treatment with immunotherapy, leading to cessation of seizures and rapid cognitive recovery. Later, the predicted serology was confirmed. This reversible and under-recognised cause of cognitive impairment, typically affecting elderly patients, can be diagnosed clinically to enable early and effective treatment.

The rate of aseptic humeral component loosening with standard-length stems is historically so low (0.3%) that presence of humeral loosening was given substantial weight in defining periprosthetic shoulder infection by the International Consensus Meeting (ICM) in 2018. This study aims to confirm that the historically low rate of humeral stem aseptic loosening is not affected by the adoption of a novel short humeral stem.Following institutional review board approval, this retrospective multi-institutional study was undertaken. A review of anatomic total shoulder arthroplasty (TSA) cases at 3 institutions provided 184 shoulders that received TSA with a grit-blasted, rectangular short humeral stem without ingrowth coating (Univers Apex; Arthrex). The average patient age was 62.1 years (range: 30-84), and 57.1% (105/184) were male. One-year radiographic follow-up was achieved in 64.7%. Patient clinical charts were reviewed for onset of newly painful shoulders, radiographic evidence of loosening, and return to the operating room for any reason. All patients with concern for clinically significant humeral loosening underwent workup for periprosthetic shoulder infection. Immediate postoperative films were reviewed to identify any differences in prosthetic canal fit. The definition of periprosthetic shoulder infection used was provided by the recent ICM shoulder guidelines.Twenty-three (12.5%) patients presented with a painful shoulder and radiographic concern for potential humeral loosening at a mean follow-up of 1.5 years (range: 1.5 months-3.4 years). Thirteen (7.1%) of these underwent revision shoulder arthroplasty where a loose stem was confirmed. All revisions underwent tissue culture, and 3 cases were consistent with probable or possible periprosthetic infection at the time of revision arthroplasty. The rate of symptomatic aseptic humeral loosening in this series was 10.9% (20/184), with 5.4% undergoing revision surgery. Patients with symptomatic aseptic humeral loosening were more likely to be male (90.5%) than those patients without symptoms (52.8%, P.001). There were no differences in canal fit between patients with concern for symptomatic loosening and those with pain-free, stable implants.In this multisurgeon, multicenter study, the early humeral loosening rate for this stem design far outpaces previously reported rates, and this study likely under-reports the true incidence of clinically significant loosening as it only contains limited short-term follow-up. The perception that humeral loosening is nearly pathognomonic for periprosthetic shoulder infection should be reconsidered for certain short humeral stem designs.

Dermatomyositis is associated with malignancies and is known to have systemic involvement. However, associations with bone diseases have not been well described in the current literature. This article describes the second reported case of the co-existence of dermatomyositis and Paget’s disease of bone (PDB), but this is the first report to describe such co-existence in a specific subtype of dermatomyositis—hypomyopathic dermatomyositis. Our patient was a 51 year old woman who presented with prolonged fever, myalgia, morning stiffness, and rashes pathognomonic of dermatomyositis. There was no muscle weakness clinically, although muscle enzymes were increased and electromyogram revealed myopathic changes. Further imaging showed the incidental finding of a T11 vertebral bone lesion, of which biopsy confirmed the diagnosis of PDB. Our report illustrates the diagnostic approach to bone lesions in patients with dermatomyositis and takes a closer look at the pathophysiology and management implications of the co-occurrence of these two rare diseases.

Various systemic diseases of benign or malignant etiologies can clinically manifest in the breast. Some imaging findings of breast lesions can be pathognomonic for a given condition, while others are non-specific, mimicking primary breast carcinoma and requiring tissue biopsy for definitive diagnosis. In addition to obtaining a detailed clinical history, radiologists should be familiar with the diverse clinical and imaging characteristics of these conditions to help exclude primary breast cancer and avoid unnecessary interventions. This review aims to discuss the clinical presentations, imaging features, pathologic findings, and management of systemic conditions that may affect the breast.

The authors describe identical twin sisters with similar symptoms, fundus findings, and ophthalmic testing consistent with retinitis punctata albescens (RPA). The pathognomonic white retinal flecks, extensive midperipheral retinal pigment epithelium atrophy, and pigmentary changes demonstrate overlapping phenotypic properties of RPA and other inherited retinal degenerative diseases. Genetic testing confirmed two mutations of the RLBP1 gene: one pathogenic for RPA, and the other a variant of uncertain significance previously reported as a novel RPA mutation in the literature. This report highlights identical phenotypic findings and genetic mutations in twin sisters aiding in further classification of pathogenic mutations associated with RPA. [ Ophthalmic Surg Lasers Imaging Retina . 2021;52:450–453.]

Objective 18F-fluorodeoxyglucose PET/CT (FDG-PET/CT) is widely used in patients with large vessel vasculitis. The benefits of FDG-PET/CT in PAN has only ever been assessed in three case reports. Our aim was to describe FDG-PET/CT findings in 10 patients with newly diagnosed PAN. Methods This was a retrospective study of patients with PAN who underwent FDG-PET/CT at diagnosis between 2017 and 2020. The FDG-PET/CT data were analysed retrospectively. Results Ten patients were included: nine men and one woman with a median age of 67 years (range 43–78). PAN was diagnosed according to ACR criteria in nine patients and histologically in one. All patients had high CRP levels (median 223 mg/l). The main FDG-PET/CT abnormality was increased tracer uptake in the muscles, particularly in the connective tissue (perimysium, epimysium) (n = 7), and in linear (n = 5) or focal (n = 2) patterns. Increased FDG uptake in large-diameter vessels was observed in four patients, in the humeral (n = 4), femoral (n = 1) and common interosseous arteries (n = 1). Nine patients had bone marrow FDG uptake and six had splenic FDG uptake. Three had synovitis and three had lymph node uptake. One patient had subcutaneous FDG uptake with a ‘leopard skin’ appearance. Conclusions FDG-PET/CT seems to be a useful non-invasive imaging technique for diagnosing PAN, particularly in patients with non-specific systemic features. Tracer uptake in muscular connective tissue seems to be a recurrent sign in patients with PAN and may be pathognomonic.

A pathognomonic macular ripple sign has been reported with scanning laser ophthalmoscopy images in patients with foveal hypoplasia, though the optical basis of this sign is presently unknown. Here we present a case series of seven individuals with foveal hypoplasia (based on spectral domain optical coherence tomography). Each patient underwent infrared scanning laser ophthalmoscopy retinal imaging in both eyes, acquired with and without a polarization filter and assessment for a ripple-like effect in the fovea. On imaging, macular ripples were present in all eyes with foveal hypoplasia when using a polarization filter, but not when imaged without the filter. We conclude that the macular ripple sign is an imaging artifact attributable to the unique pattern of phase retardation of the Henle fiber layer in the setting of foveal hypoplasia. By utilizing a polarization filter with retinal photography, this feature can be exploited to promptly identify foveal hypoplasia in settings where OCT is not possible due to nystagmus.

Sixty-four cases of sarcomatoid pleural mesothelioma represent the basis of this study. The patients are 51 men and 13 women between the ages of 42 and 79 years, who presented with symptoms of chest pain, cough, and weight loss. Diagnostic imaging showed the presence of diffuse pleural thickening with encasement of the lung parenchyma in all the cases. All patients had surgical resection via extrapleural pneumonectomy. By immunohistochemistry, all cases were positive for cytokeratin AE1/AE3; however, reactivity with other markers including keratin 5/6, calretinin, and D2-40 was seen in different proportions, whereas a few cases showed positive staining for GATA3, WT1, and p40. All tumors were negative for carcinomatous epitopes (carcinoembryonic antigen, CD15, and TTF1). Our findings show that even though the use of immunohistochemical stains plays an important role in the final interpretation, the best results are accomplished by a global interpretation of clinical, radiographical, and immunohistochemical findings. It is also important to highlight that it does not seem to be a single immunohistochemical stain that is pathognomonic of sarcomatoid mesothelioma and that some other stains that are commonly used for other tumors may also show positive staining in a small percentage of sarcomatoid mesotheliomas.

Aims Simple bone cysts are benign intramedullary tumours primarily involving the long bones in skeletally immature individuals. Several mechanisms have been proposed for their pathogenesis. Although the diagnosis is typically straightforward, the interpretation can be problematic, because of superimposed fracture causing them to resemble aneurysmal bone cysts and other tumours. EWSR1-NFATC2 or FUS-NFATC2 fusions, which are characteristic of a subset of aggressive round cell sarcomas, have been recently detected in simple bone cysts. The aim of this study was to examine the clinicopathological and molecular features in a series of simple bone cysts. Methods and results Using RNA-based next-generation sequencing and/or fluorescence in-situ hybridisation, we investigated the presence of EWSR1 or FUS rearrangements in nine simple bone cysts. The patients were five females and four males, aged 3-23 years (median, 14 years); the tumours ranged from 19 mm to 160 mm (median, 46 mm) in size, and involved the femur (n = 3), humerus (n = 2), fibula (n = 2), tibia (n = 1), and iliac wing (n =1). We identified three cases with EWSR1-NFATC2 fusion (showing identical breakpoints to those in EWSR1-NFATC2 sarcomas) and one additional case with FUS rearrangement. Unlike in EWSR1-NFATC2 sarcomas, immunohistochemical expression of NKX3.1 and NKX2.2 was absent in two simple bone cysts tested. Conclusions More than 40% of simple bone cysts harbour genetic alterations confirming that they are neoplastic, investigation of EWSR1 and/or FUS rearrangement may help to distinguish simple bone cysts from mimics, and NFATC2 rearrangement is not pathognomonic of malignancy.

Background/objectives Clinically amyopathic juvenile dermatomyositis (CAJDM) is an uncommon but important subset of patients with juvenile dermatomyositis, characterized by pathognomonic cutaneous findings without clinically evident muscle weakness. With limited data available and lack of standardized management guidelines for CAJDM, we sought to describe common features, including early indicators that may be associated with progression of muscle disease, and review the course and treatment of these patients. Methods A retrospective chart review of patients with CAJDM was conducted at four North American academic centers between the years 2000 and 2015. Results Twenty-nine patients were included, of whom 21 (72%) were female. After a median follow-up of 4 years (IQR 1.8-5.8 years), 5 of the 29 (17%) patients with CAJDM evolved into classic juvenile dermatomyositis. Median time to develop weakness was 12 months (IQR 8-19 months) after diagnosis. The skin disease of CAJDM patients who did not develop weakness was often found to be recalcitrant with 58% of them requiring multiple systemic therapies to control their cutaneous disease. Conclusion These results highlight the need for long-term monitoring for the development of myositis in CAJDM and for prospective studies on treatment of recalcitrant skin disease.

Oral hairy leukoplakia (OHL) is an Epstein-Barr virus (EBV) related lesion seen in severely immunocompromised patients especially, those with concomitant human immunodeficiency virus (HIV) infection. It has been rarely reported in immunocompetent patients. OHL most often presents on the lateral border of the tongue as an asymptomatic, white, and corrugated plaque that does not rub off. With Institutional Review Board (IRB) approval, the University of Florida Oral & Maxillofacial Pathology Biopsy Service archives spanning 1994–2020 were queried. All cases of OHL affecting immunocompetent patients were identified. Data related to age, gender, clinical presentation, results of Epstein-Barr virus in situ hybridization (EBER-ISH), and periodic acid–Schiff (PAS)-fungus stains were recorded. Medical history and histology of all cases were reviewed for confirmation of diagnosis. A total of 11 cases were identified, the majority of which were males (63.6%) with a mean age of 62 years. All patients were Caucasian. Lesions entirely were located on the lateral borders of the tongue. OHL should not be considered pathognomonic for HIV infection and should be included in the differential diagnoses of keratotic lesions affecting the lateral border of tongue even in immunocompetent elderly patients. The etiology of OHL in this group of patients is not clearly understood.

Primary lymphedema is a rare chronic pathology associated with constitutional abnormalities of the lymphatic system. The objective of this French National Diagnosis and Care Protocol (Protocole National de Diagnostic et de Soins; PNDS), based on a critical literature review and multidisciplinary expert consensus, is to provide health professionals with an explanation of the optimal management and care of patients with primary lymphedema. This PNDS, written by consultants at the French National Referral Center for Primary Lymphedema, was published in 2019 (https://has-sante.fr/upload/docs/application/pdf/2019-02/pnds_lymphoedeme_primaire_final_has.pdf). Primary lymphedema can be isolated or syndromic (whose manifestations are more complex with a group of symptoms) and mainly affects the lower limbs, or, much more rarely, upper limbs or external genitalia. Women are more frequently affected than men, preferentially young. The diagnosis is clinical, associating mild or non-pitting edema and skin thickening, as confirmed by the Stemmer’s sign (impossibility to pinch the skin on the dorsal side or the base of the second toe), which is pathognomonic of lymphedema. Limb lymphoscintigraphy is useful to confirm the diagnosis. Other causes of swelling or edema of the lower limbs must be ruled out, such as lipedema. The main acute lymphedema complication is cellulitis (erysipelas). Functional and psychological repercussions can be major, deteriorating the patient’s quality of life. Treatment aims to prevent those complications, reduce the volume with low-stretch bandages, then stabilize it over the long term by exercises and wearing a compression garment. Patient education (or parents of a child) is essential to improve observance.

Breast cancer is a vastly heterogeneous disease encompassing a panoply of special histological subtypes. Although rare breast tumors have largely not been investigated systematically in large scale genomics series, recent studies have shed light on the genetic underpinnings of special histologic subtypes of breast cancer. Genomic analyses of estrogen receptor-positive special histologic types of breast cancer have not resulted in the identification of novel pathognomonic genetic alterations in addition to the confirmation of the presence of CDH1 loss-of-function mutations in invasive lobular carcinomas. By contrast, the analyses of triple-negative breast cancers have demonstrated that low-grade triple-negative breast cancers categorically differ from the common forms of high-grade triple-negative disease biologically and phenotypically and are underpinned by specific fusion genes or hotspot mutations. A subset of low-grade triple-negative disease has been shown to harbor highly recurrent if not pathognomonic genetic alterations, such as ETV6-NTRK3 fusion gene in secretory carcinomas, the MYB-NFIB fusion gene, MYBL1 rearrangements or MYB gene amplification in adenoid cystic carcinomas, and HRAS Q61 hotspot mutations coupled with mutations in PI3K pathway genes in estrogen receptor-negative adenomyoepitheliomas. A subset of these pathognomonic genetic alterations (e.g., NTRK1/2/3 fusion genes) now constitute an FDA approved indication for the use of TRK inhibitors in the advanced/metastatic setting. These studies have also corroborated that salivary gland-like tumors of the breast, other than acinic cell carcinomas, harbor the repertoire of somatic genetic alterations detected in their salivary gland counterparts. Reassuringly, the systematic study of special histologic types of breast cancer utilizing state-of-the-art sequencing approaches, rather than rendering pathology obsolete, has actually strengthened the importance of breast cancer histologic typing and is providing additional ancillary markers for the diagnosis of these rare but fascinating entities.

Purpose To describe the detailed phenotype, long-term clinical course, clinical variability, and genotype of patients with enhanced S-cone syndrome (ESCS). Design Retrospective case series. Participants Fifty-six patients with ESCS. Methods Clinical history, examination, imaging, and electrophysiologic findings of 56 patients (age range, 1–75 years) diagnosed with ESCS were reviewed. Diagnosis was established by molecular confirmation of disease-causing variants in the NR2E3 gene (n = 38) or by diagnostic full-field electroretinography findings (n = 18). Main Outcome Measures Age at onset of visual symptoms, best-corrected visual acuity (BCVA), quantitative age-related electrophysiologic decline, and imaging findings. Results Mean age at onset of visual symptoms was 4.0 years, and median age at presentation was 20.5 years, with mean follow-up interval being 6.1 years. Six patients were assessed once. Disease-causing variants in NR2E3 were identified in 38 patients. Mean BCVA of the better-seeing eye was 0.32 logarithm of the minimum angle of resolution (logMAR) at baseline and 0.39 logMAR at follow-up. In most eyes (76% [76/100]), BCVA remained stable, with a mean BCVA change of 0.07 logMAR during follow-up. Nyctalopia was the most common initial symptom, reported in 92.9% of patients (52/56). Clinical findings were highly variable and included foveomacular schisis (41.1% [26/56]), yellow-white dots (57.1% [32/56]), nummular pigmentation (85.7% [48/56]), torpedo-like lesions (10.7% [6/56]), and circumferential subretinal fibrosis (7.1% [4/56]). Macular and peripheral patterns of autofluorescence were classified as (1) minimal change, (2) hypoautofluorescent (mild diffuse, moderate speckled, moderate diffuse, or advanced), or (3) hyperautofluorescent flecks. One patient showed undetectable electroretinography findings; quantification of main electroretinography components in all other patients revealed amplitude and peak time variability but with pathognomonic electroretinography features. The main electroretinography components showed evidence of age-related worsening over 6.7 decades, at a rate indistinguishable from that seen in unaffected control participants. Eighteen sequence variants in NR2E3 were identified, including 4 novel missense changes. Conclusions Enhanced S-cone syndrome has a highly variable phenotype with relative clinical and imaging stability over time. Most electroretinography findings have pathognomonic features, but quantitative assessment reveals variability and a normal mean rate of age-related decline, consistent with largely nonprogressive peripheral retinal dysfunction.

Adenosquamous proliferation (ASP), characterised by ductal structures with a dual glandular and squamous phenotype within desmoplastic stroma, is essentially a hallmark of various sclerosing lesions of the breast (SL) and breast lesions with sclerosis (BLWS), not including sclerosing adenosis. In radial scar/complex sclerosing lesion (RS/CSL), clonality has been previously demonstrated in microdissected ASP. SL/BLWS encompass a diverse range of pathological entities that historically have an equally diverse list of names, often for histologically alike or identical lesions at different anatomical locations. In common they are comprised of one or more components of fibrocystic or proliferative breast disease and papillomata, which become distorted and even obliterated by a sclerosing process that appears to be associated with and/or secondary to ASP, which in an individual lesion may be inconspicuous at the time of biopsy. The histological overlap of various SL/BLWS with RS/CSL, in which a nidus containing ASP is pathognomonic of early lesions, also supports a common element of ASP across various SL/BLWS. SL/BLWS show an interesting association with low-grade metaplastic carcinoma, particularly low-grade adenosquamous carcinoma (LGASC) with which, they appear to form a histological and possible biological spectrum because ASP and LGASC share similar histological and immunophenotypical characteristics. The presentation of ASP in various SL/BLWS will be discussed.

OBJECTIVE: Neuropsychologists labor over scoring the Rey Complex Figure Test (RCFT), a measure of visuospatial functioning and nonverbal memory. Compelling arguments suggest that pathognomonic signs of the RCFT are observable to the “naked eye.” Standard scoring systems are insensitive to lateralizing temporal lobe epilepsy (TLE) and alternative “qualitative” scoring systems are ineffective and time-consuming. METHOD: We examined accuracy of TLE lateralization using subjective classifications and standard scoring. Participants were 84 TLE patients (53 female; mean age(=)36yrs) and 46 controls (27 female; mean age = 27.5). The former were classified as right (n = 41) or left (n = 43) TLE by neurologists using EEG and MRI studies. RCFT were scored using standard scoring with cut-offs of z ≤ −2 classified as impaired and were rated as “characteristic” of RTLE (Ugly) or LTLE (Not Ugly) performance by neuropsychologists. Accuracy of seizure lateralization for both methods was examined. RESULTS: Neuropsychologists’ ratings accuracy were at or below chance. Standard scoring criteria showed chance or slightly better lateralization prediction. Standard scoring predicted RTLE laterality more accurately than subjective ratings for copy trials; standard scoring was no better at lateralizing RTLE with delays. Subjective ratings were better at distinguishing TLE patients from controls. CONCLUSION: Findings highlight concerns regarding the usefulness of the RCFT in TLE lateralization, regardless of scoring approach.

Introduction Sclerosing odontogenic carcinoma was a new addition to the list of head and neck tumors by World Health Organization in 2017. This lesion has scarcely been reported and a lack of pathognomonic markers for diagnosis exists. Objective The aim of the study was to summarize findings from the available literature to provide up-to-date information on sclerosing odontogenic carcinoma and to analyse clinical, radiological, and histopathological features to obtain information for and against as an odontogenic malignancy. Methods We conducted a comprehensive review of literature by searching Pubmed, EBSCO and Web of Science databases, according to PRISMA guidelines. All the cases reported as sclerosing odontogenic carcinoma in English were included. Data retrieved from the articles were gender, age, clinical features, site, relevant medical history, radiographical findings, histopathological findings, immunohistochemical findings, treatments provided and prognosis. Results Mean age at diagnosis of sclerosing odontogenic carcinoma was 54.4 years with a very slight female predilection. Sclerosing odontogenic carcinoma was commonly reported in the mandible as an expansile swelling which can be asymptomatic or associated with pain or paraesthesia. They appeared radiolucent with cortical resorption in radiograph evaluation. Histologically, sclerosing odontogenic carcinoma was composed of epithelioid cells in dense, fibrous, or sclerotic stroma with equivocal perineural invasion. Mild cellular atypia and inconspicuous mitotic activity were observed. There is no specific immunohistochemical marker for sclerosing odontogenic carcinoma. AE1/AE3, CK 5/6, CK 14, CK19, p63 and E-cadherin were the widely expressed markers for sclerosing odontogenic carcinoma. Surgical resection was the main treatment provided with no recurrence in most cases. No cases of metastasis were reported. Conclusion From the literature available, sclerosing odontogenic carcinoma is justifiable as a malignant tumor with no or unknown metastatic potential which can be adequately treated with surgical resection. However, there is insufficient evidence for histological grading or degree of malignancy of this tumor. Resumo Introdução O carcinoma odontogênico esclerosante é a nova adição à lista de tumores de cabeça e pescoço da Organização Mundial da Saúde em 2017. Essa lesão é pouco relatada e não há marcadores patognomônicos para o diagnóstico. Objetivo Resumir os achados da literatura disponível para fornecer informações atualizadas sobre o carcinoma odontogênico esclerosante e analisar as características clínicas, radiológicas e histopatológicas a favor e contra sua classificação como uma lesão odontogênica maligna. Método Uma revisão abrangente da literatura foi feita nos bancos de dados Pubmed, Ebsco e Web of Science, de acordo com as diretrizes do Prisma. Todos os casos relatados em inglês como carcinoma odontogênico esclerosante foram incluídos. Os dados recuperados dos artigos foram sexo, idade, características clínicas, sítio do tumor, histórico médico relevante, achados radiográficos, achados histopatológicos, achados imuno-histoquímico, tratamentos instituídos e prognóstico. Resultados A média de idade ao diagnóstico de carcinoma odontogênico esclerosante foi de 54,4 anos, com uma predileção muito leve pelo sexo feminino. Tumores do tipo carcinoma odontogênico esclerosante foram comumente relatados na mandíbula como um edema expansivo, que pode ser assintomático ou associado a dor ou parestesia. Eles têm aparência radiolucente com reabsorção cortical na radiografia. Histologicamente, o carcinoma odontogênico esclerosante é composto por células epitelioides em estroma denso, fibroso ou esclerótico com invasão perineural ambígua. Atipia celular leve e atividade mitótica imperceptível foram observadas. Não há um marcador imuno-histoquímico específico para SOC. AE1/AE3, CK 5/6, CK 14, CK19, p63 e E-caderina foram os marcadores amplamente expressos para carcinoma odontogênico esclerosante. A ressecção foi o principal tratamento feito sem recorrência na maioria dos casos. Nenhum caso de metástase foi relatado. Conclusão De acordo com a literatura disponível, é justificável classificar o carcinoma odontogênico esclerosante como um tumor maligno com nenhum ou desconhecido potencial metastático, que pode ser tratado adequadamente com ressecção cirúrgica. Entretanto, não há evidências suficientes para a graduação histológica ou de malignidade desse tumor.

Morphologic interpretation is the standard in diagnosing myelodysplastic syndrome (MDS), but it has limitations, such as varying reliability in pathologic evaluation and lack of integration with genetic data. Somatic events shape morphologic features, but the complexity of morphologic and genetic changes makes clear associations challenging. This article interrogates novel clinical subtypes of MDS using a machine-learning technique devised to identify patterns of cooccurrence among morphologic features and genomic events. We sequenced 1079 MDS patients and analyzed bone marrow morphologic alterations and other clinical features. A total of 1929 somatic mutations were identified. Five distinct morphologic profiles with unique clinical characteristics were defined. Seventy-seven percent of higher-risk patients clustered in profile 1. All lower-risk (LR) patients clustered into the remaining 4 profiles: profile 2 was characterized by pancytopenia, profile 3 by monocytosis, profile 4 by elevated megakaryocytes, and profile 5 by erythroid dysplasia. These profiles could also separate patients with different prognoses. LR MDS patients were classified into 8 genetic signatures (eg, signature A had TET2 mutations, signature B had both TET2 and SRSF2 mutations, and signature G had SF3B1 mutations), demonstrating association with specific morphologic profiles. Six morphologic profiles/genetic signature associations were confirmed in a separate analysis of an independent cohort. Our study demonstrates that nonrandom or even pathognomonic relationships between morphology and genotype to define clinical features can be identified. This is the first comprehensive implementation of machine-learning algorithms to elucidate potential intrinsic interdependencies among genetic lesions, morphologies, and clinical prognostic in attributes of MDS.

Histoplasmosis, a mycotic infection caused by Histoplasma spp, can infect the gastrointestinal tract of dogs. Clinical signs of gastrointestinal histoplasmosis can include diarrhea, profound weight loss, anorexia, and vomiting. Rectal scrape for cytology can provide a quick diagnosis, but if negative abdominal ultrasound is often pursued. Ultrasonographic abnormalities in dogs with gastrointestinal histoplasmosis have rarely been reported. This retrospective, single-center case series aimed to describe the ultrasonographic features of gastrointestinal histoplasmosis in dogs. Nineteen cases with a diagnosis of gastrointestinal histoplasmosis confirmed with gastrointestinal cytology or histopathology (N = 15) or gastrointestinal lymph node cytology (N = 4) that had undergone an abdominal ultrasound examination from 2005 to 2020 were included. Ultrasound images were reviewed by an American College of Veterinary Radiology (ACVR)-certified veterinary radiologist and diagnostic imaging resident. Eighteen cases had sonographic abnormalities within the gastrointestinal tract. The colon was the most affected organ. Colonic thickening and abnormal wall layering were the most frequent findings (N = 16 dogs); thickening ranged from 0.36 to 1.2 cm. Diffuse, multifocal, and focal thickening patterns were seen. Sixteen patients had abnormal wall layering of the colon (complete loss of layering or altered with partial loss of layering). Other frequent findings included lymphadenopathy, small intestinal thickening with abnormal wall layering and peritoneal effusion. Based on the authors' review of the literature, this is the first description of ultrasonographic findings of gastrointestinal histoplasmosis in a group of dogs. Although abnormal gastrointestinal wall layering seen sonographically is most frequently associated with neoplasia, this is not pathognomonic. Gastrointestinal histoplasmosis should be considered as a differential diagnosis due to the similarities and overlap of ultrasonographic features.

Background Degos disease is a very rare syndrome with multisystem vasculopathy of unknown cause. It can affect the skin, gastrointestinal tract, and central nervous system. However, other organs such as the kidney, lungs, pleura, and liver can also be involved. Case presentation A 35-year-old Hindu woman presented to our dermatology outpatient department with complaints of depigmented painful lesions. A skin punch biopsy taken from the porcelain white atrophic papules which revealed features of Degos disease. Conclusion The diagnosis of Degos disease is usually based on the presence of the pathognomonic skin lesions and a tissue biopsy demonstrating a wedge-shaped area of necrosis with thrombotic occlusion of the small arterioles. No specific treatment is currently available for this disease.

Supplemental Digital Content is available in the text., Background: Patient selection for headache surgery is an important variable to ensure successful outcomes. In the authors’ experience, a valuable method to visualize pain/trigger sites is to ask patients to draw their pain. The authors have found that there are pathognomonic pain patterns for each site, and typically do not operate on patients with atypical pain sketches, as they believe such patients are poor surgical candidates. However, a small subset of these atypical patients undergo surgery based on other strong clinical findings. In this study, the authors attempt to quantify this clinical experience. Methods: Patients were prospectively enrolled and completed pain sketches at screening. One hundred six diagrams were analyzed/categorized by two independent, blinded reviewers as follows: (1) typical (pain over nerve distribution, expected radiation); (2) intermediate (pain over nerve distribution, atypical radiation); or (3) atypical (pain outside of normal nerve distribution, atypical radiation). Preoperative and postoperative Migraine Headache Index was compared between subgroups using unpaired t tests. Results: Migraine Headache Index improvement was 73 ± 38 percent in the typical group, 78 ± 30 percent in the intermediate group, and 30 ± 40 percent in the atypical group. There was a significant difference in Migraine Headache Index between the typical and atypical groups (p = 0.03) and between the intermediate and atypical groups (p < 0.01). The chance of achieving Migraine Headache Index improvement greater than 30 percent in the atypical group was 20 percent. Conclusions: Patient pain sketches classified as atypical (facial pain, atypical pain point origin, diffuse pain) can predict poor outcomes in headache surgery. As the authors continue to develop patient selection criteria for headache surgery, patient sketches should be considered as an effective, cheap, and simple-to-interpret tool for selecting candidates for surgery.

Aim To present seven new genetically confirmed cases of biotin–thiamin-responsive basal ganglia disease (BTBGD) with different clinical and brain magnetic resonance imaging (MRI) characteristics. Material and methods Genetic variants, clinical presentations, brain MRI findings, treatment response, and prognosis of seven selected patients with BTBGD, diagnosed with SLC19A3 mutations were described. Results Among seven patients diagnosed with BTBGD, two had early infantile form, four had classic childhood form, and one was asymptomatic. Four different homozygous variants were found in the SLC19A3. Two patients with early infantile form presented with encephalopathy, dystonia, and refractory seizure in the neonatal period and have different variants. Their MRI findings were similar and pathognomonic for the early infantile form. Three siblings had same variants: one presented seizure and encephalopathy at the age of 4 months, one presented seizure at 14 years, and another was asymptomatic at 20 years. Only one of them had normal MRI findings, and the others MRI findings were similar and suggestive of the classic form. Other two siblings; one of them presented with developmental delay, seizure, and dystonia at 18 months and the other presented with subacute encephalopathy and ataxia at 20 months. Their MRI findings were also similar and suggestive of the classic form. Conclusion BTBGD may present with dissimilar clinical characteristics or remain asymptomatic for a long time period even in a family or patients with same variants. Brain MRI patterns may be important for the early diagnosis of BTBGD that would save children’s lives.

Early partial portal vein contrast enhancement (EPoVE) during the late arterial phase is seen in CT angiography of dogs. Previously, it has been a finding attributed to arterioportal vascular anomalies. However, EPoVE may be a normal feature of venous return from abdominal organs. This prospective, descriptive study investigated the origin of EPoVE using four-dimensional CT (4D-CT). Sixteen dogs undergoing 4D-CT for disease of the cranial abdomen were prospectively collected. Regions of interest were placed in the hepatic artery (HA), gastroduodenal vein (GV), extrahepatic portal vein (EHPV) cranial and caudal to the GV, and splenic vein (SV) caudal to its EHPV entry. Times to earliest, partial, full, and maximal vascular enhancement were recorded. A mixed model analysis of variance was used to compare time-to-contrast enhancement between vessels. The number, origin, and time of EPoVE were recorded if visible. A total of 24 EPoVE areas were observed in all dogs. Most dogs had either one (10/16) or two (5/16) areas of EPoVE. The origin of EPoVE was identified in 14 of 24 areas: the GV in five areas, cranial mesenteric vein in four areas, pancreatic branch of SV in three areas, and SV in two areas. The time-to-contrast-enhancement was significantly different for the individual veins compared to the HA. EPoVE during the late arterial phase is a common phenomenon of early portal venous drainage of abdominal organs; it should not be interpreted as pathognomonic for arterioportal vascular anomalies, which should be diagnosed based on additional criteria.

Background Hong Kong is geographically located in the province of Guangdong which, after Hubei, has been the region of China second-most affected by the COVID-19 pandemic. Compared to the pathognomonic symptoms of the named disease, homeopathic symptoms are always more helpful for homeopathic prescriptions. Aim This study reports and summarizes the homeopathic symptoms observed in 18 confirmed/suspected epidemiologically related cases in cluster outbreaks of COVID-19 in Hong Kong in early 2020. Methods Homeopathic symptoms from this case series were collected from 18 consecutive patients who, in addition to their concurrent conventional treatment or traditional Chinese medicine, actively sought help from homeopathy as an adjunctive measure for symptomatic relief from COVID-19. Cases were categorized according to outbreak clusters, focusing mainly on the homeopathic symptoms. In the analysis, frequency of all homeopathic medicines, common rubrics in all the cases, common rubrics in each of the top-ranked remedies, and differentiating symptoms for each top-ranked remedy were determined. Results Homeopathic symptoms of 18 cases, each identified as mild and belonging to one of six separate clusters, are reported. Eighteen common symptoms screened out of 79 selected rubrics constituted two sets of homeopathic symptom pictures: Bryonia alba (n = 4) and Gelsemium sempervirens (n = 12). Eight and seven differentiating features, respectively, were identified for Bryonia alba and Gelsemium sempervirens. Conclusion The common symptoms of 18 mild COVID-19 cases constituted two sets of homeopathic symptom pictures, indicating Bryonia alba or Gelsemium sempervirens; they were indicated in 4 and 12 cases, respectively, out of the 18 in total.

Background Breast cancer is the most common cancer in women. However, in the management of breast cancer, paraneoplastic neurological syndromes represent a diagnostic and therapeutic challenge. The diagnosis of paraneoplastic neurological syndromes is difficult due to the heterogeneity of symptoms, the timing of presentation, and the absence of antibodies, and it generally occurs before the diagnosis of breast cancer in 80% of patients who develop paraneoplastic neurological syndromes. We describe a 72-year-old woman with subacute ophthalmoplegia-ataxia syndrome who was subsequently diagnosed as having breast cancer and anti-Ri antibodies. Case presentation A 72-year-old post-menopausal Caucasian woman, with a positive medical history for diabetes mellitus and hypertension, presented with a 3-month onset of blurred vision, diplopia, and progressive gait disturbance. Serological tests were positive for well-characterized onconeural antibodies (anti-Ri). A whole-body computed tomography scan revealed a nodular opacity under her left nipple and axillary adenopathy. A biopsy of her left breast was performed, and histological examination showed ductal carcinoma. She underwent a superoexternal quadrantectomy with left axillary dissection. The final diagnosis showed infiltrating ductal carcinoma of the breast (T1c N1 M0, stage IIA) associated with paraneoplastic ophthalmoplegia-ataxia syndrome. At a 6-month follow-up, she showed no clinical or instrumental evidence of neoplastic recurrence with partial clinical improvement of neurological symptoms, such as ataxia and diplopia. Conclusion The diagnosis of paraneoplastic neurological syndromes is often late, as in this patient, but treatment at an early stage may provide a good prognosis. Furthermore, this is one of several cases of an anti-Ri paraneoplastic neurological syndrome not associated with myoclonus, which reinforces the belief that opsoclonus myoclonus syndrome is not pathognomonic of the associated anti-Ri paraneoplastic neurological syndromes.

Synpolydactyly type 1 (SPD1, OMIM 186000) is inherited as autosomal dominant and is caused byHOXD13mutations. The condition is rare and is known for its phenotypic heterogeneity. In the homozygous state, the phenotype is generally more severe and is characterized by three main features: a more severe degree of syndactyly, a more severe degree of brachydactyly, and the frequent loss of the normal tubular shape of the metacarpals/metatarsals. Due to the phenotypic heterogeneity and the phenotypic overlap with other types of syndactyly, no pathognomonic feature has been described for the homozygous phenotype of SPD1. In the current communication, the author reviews the literature on the phenotypes of SPD1 in homozygous patients. The review documents that not all homozygous patients show a severe hand phenotype. The review also defines the “relatively long and medially deviated big toe with/without cupping of the forefoot” as a pathognomonic feature in the phenotype. Illustration of this feature is done through a demonstrative clinical report in a multigeneration family with SPD1 andHOXD13polyalanine repeat expansion. Finally, the pathogenesis of the clinical features is reviewed.

Significance Susac’s syndrome is a rare retinocochleocerebral immune-mediated endotheliopathy and clinically manifests as a pathognomonic triad of encephalopathy, hearing loss, and branch retinal artery occlusion. This triad is rarely present at symptom onset, thus, it is often initially misdiagnosed. To date, Susac’s syndrome has persisted as an elusive entity and there are numerous treatment regimens proposed with varying effectiveness mainly based on case series. Purpose To report our 12-month follow-up experience in the treatment of Susac’s syndrome with rituximab. Case report A 25-year-old female presenting with headache, paresthesias, tinnitus, peripheral vertigo, and a branch retinal artery occlusion. The patient had a personal history of anxiety-depressive disorder. After discarding other infectious/autoimmune conditions and magnetic resonance imaging suggestive findings of Susac’s syndrome, we observed a prompt response to the combination of intravenous immunoglobulin, corticosteroids, and rituximab. Conclusion A standard treatment paradigm is lacking in Susac’s syndrome as randomized controlled trials do not exist. There are no definitive scores to predict its outcome, and early diagnosis is important as the organs involved can easily become irreversibly damaged. Thus, patients with Susac’s syndrome must be treated promptly and aggressively. Our report highlights the possibility of positive long-term prognosis with an early use of rituximab. However, a systematic therapeutic approach on the basis of controlled trials is mandatory to develop a consensus.

Objective: To describe the prenatal sonographic features and maternal biochemical markers in triploid pregnancies and to assess whether prenatal phenotype can determine genetic origin. Methods: We performed a retrospective multicenter cohort study that included all triploid pregnancies diagnosed between 2000 and 2018 in two Fetal Medicine Units in Amsterdam. Fetal growth, presence of structural anomalies, extra-fetal anomalies, and maternal biochemical markers were retrieved. Asymmetrical intrauterine growth restriction was diagnosed when the head-to-abdominal circumference (HC/AC) ratio was >95th centile. Parental origin was analyzed via molecular genotyping in 46 cases (38.3%). Results: One hundred and twenty triploid pregnancies were identified, of which 86 cases (71.6%) were detected before 18 weeks of gestation. Triploidy of maternal origin was found in 32 cases (69.6%) and was associated with asymmetrical growth restriction, a thin placenta, and low pregnancy-associated plasma protein A and free beta-human chorionic gonadotrophin (β-hCG) levels. Triploidy of paternal origin was found in 14 cases (30.4%) and was associated with an increased nuchal translucency, placental molar changes, and a high free β-hCG. Prospective prediction of the parental origin of the triploidy was made in 30 of the 46 cases based on phenotypical ultrasound presentation, and it was correct in all cases. Conclusion: Asymmetrical growth restriction with severe HC/AC discrepancy is pathognomonic of maternal triploidy. Placental molar changes indicate a paternal triploidy. Moreover, triploidy can present with an abnormal first trimester combined test, with serum levels on the extreme end. When available results of maternal serum markers can support the diagnosis of parental origin of the triploidy, an accurate assessment of the parental origin based on prenatal sonographic features is possible, making DNA analysis redundant.

Inflammatory bowel diseases can occur with a wide range of extraintestinal symptoms, among which pyostomatitis vegetans, that is a rare but almost pathognomonic finding. We report the case of a 9-year-old female patient affected by ulcerative colitis and recently treated for an oral candidiasis, who experienced a relapse in her ulcerative colitis (PUCAI 50), preceded by the return of whitish lesions in the oral cavity, initially misdiagnosed and unsuccessfully treated as candidiasis and then recognized as pyostomatitis vegetans. Bloody diarrhea was treated with oral beclomethasone, with rapid remission of ulcerative colitis and disappearance of pyostomatitis vegetans. After 2 years, ulcerative colitis is in sustained remission with oral mesalamine and pyostomatitis vegetans has not recurred. Pyostomatitis vegetans is considered a marker of ulcerative colitis relapse among adult population, and although very few pediatric cases are described, it is very important to remember it in the differential diagnosis of the oral manifestations and comorbidities of inflammatory bowel diseases.

Dermatomyositis is an idiopathic muscle disease characterized by proximal muscle weakness, raised muscle enzymes, characteristic changes in electromyography and typical skin rash and biopsy findings. Dermatological features like Gottron's sign and papules are considered as pathognomonic for dermatomyositis. Panniculitis is one of the rare findings in dermatomyositis. Here, we report a case of dermatomyositis in 37 years old female who presented with only panniculitis and the diagnosis was delayed by more than a year.

Ovarian torsion is a common concern in girls presenting to emergency care with pelvic or abdominal pain. The diagnosis is challenging to make accurately and quickly, relying on a combination of physical exam, history and radiologic evaluation. Failure to establish the diagnosis in a timely fashion can result in irreversible ovarian ischemia with implications for future fertility. Ultrasound is the mainstay of evaluation for ovarian torsion in the pediatric population. However, even with a high index of suspicion, imaging features are not pathognomonic. We sought to develop an algorithm to aid radiologists in diagnosing ovarian torsion using machine learning from sonographic features and to evaluate the frequency of each sonographic element. All pediatric patients treated for ovarian torsion at a quaternary pediatric hospital over an 11-year period were identified by both an internal radiology database and hospital-based International Statistical Classification of Diseases and Related Health Problems (ICD) code review. Inclusion criteria were surgical confirmation of ovarian torsion and available imaging. Patients were excluded if the diagnosis could not be confirmed, no imaging was available for review, the ovary was not identified by imaging, or torsion involved other adnexal structures but spared the ovary. Data collection included: patient age; laterality of torsion; bilateral ovarian volumes; torsed ovarian position, i.e. whether medialized with respect to the mid-uterine line; presence or absence of Doppler signal within the torsed ovary; visualization of peripheral follicles; and presence of a mass or cyst, and free peritoneal fluid. Subsequently, we evaluated a non-torsed control cohort from April 2015 to May 2016. This cohort consisted of sequential girls and young adults presenting to the emergency department with abdominopelvic symptoms concerning for ovarian torsion but who were ultimately diagnosed otherwise. These features were then fed into supervised machine learning systems to identify and develop viable decision algorithms. We divided data into training and validation sets and assessed algorithm performance using sub-sets of the validation set. We identified 119 torsion-confirmed cases and 331 torsion-absent cases. Of the torsion-confirmed cases, significant imaging differences were evident for girls younger than 1 year; these girls were then excluded from analysis, and 99 pediatric patients older than 1 year were included in our study. Among these 99, all variables demonstrated statistically significant differences between the torsion-confirmed and torsion-absent groups with P-values

To investigate the value of extensive perilesional muscle edema for the differentiation between myositis ossificans (MO) and malignant intramuscular soft tissue tumors on MRI.Two blinded readers analyzed MR examinations of 90 consecutive patients with intramuscular soft tissue masses (group 1: MO, n = 20; group 2: malignant tumors, n = 70). Extent of edema around lesions was graded (0, none; 1, minimal edema; 2, moderate edema; 3, extensive edema). Edema-lesion ratio (ELR = ratio of the maximal diameter of the edema and the maximal diameter of the central lesion) was calculated. ROC analysis, Mann-Whitney U test, and Kappa test were used.A total of 70% and 60% of patients with MO had edema grade 3 (reader 1/reader 2), 30%/40% edema grade 2. For the patients with malignant tumors, it was 2.9%/1.4% (edema grade 3) and 16%/23% (edema grade 2). Interrater reliability was substantial (kappa = 0.66). Extent of edema was significantly higher for patients of group 1 (p 0.0001, both readers). Mean ELR was 3.60 (group 1) and 1.35 (group 2), with statistically significant differences (p 0.0001). Grade 3 edema showed a sensitivity/specificity of 70%/97.1% (reader 1) and 60%/99% (reader 2) for diagnosing MO. For ELR 2.0, sensitivity was 90% and specificity 91% for diagnosing MO.Extensive perilesional muscle edema on MRI of more than double the size of the central lesion is highly specific, but not pathognomonic for myositis ossificans in the early/intermediate stage in the differentiation to malignant intramuscular soft tissue lesions.

Congenital disorders of glycosylation (CDG) are a heterogeneous group of inborn errors of metabolism mostly causing multisystem disease. In 2013, biallelic mutations in the GMPPA gene were described in association with one such CDG known as alacrima, achalasia, and mental retardation syndrome (AAMR). To date, 18 patients have been reported, nearly all displaying the same pathognomonic triad of symptoms described in the name. This condition shares considerable phenotypic overlap with Triple-A syndrome caused by biallelic mutations in the AAAS gene; however, AAMR lacks the characteristic adrenocortical findings associated with Triple-A syndrome. We report three patients from two unrelated families with the same homozygous GMPPA mutation (c.265dup, p.L89fs). Notably, both families reported indigenous Maya-Mam heritage and originated from the town of Concepción Chiquirichapa in Quezaltenango, Guatemala. Our cases help to expand the AAMR phenotype by outlining dysmorphic features not well described in the prior cases. Additionally, we encourage all providers with patients presenting with this unique triad of symptoms to consider sequencing of the GMPPA gene. Special consideration should be given to families of Guatemalan Maya-Mam ancestry who may also have this identified founder mutation. Finally, this condition may indeed be underdiagnosed based on a review of the literature.

BACKGROUND/PURPOSE To present a novel case of paracentral acute middle maculopathy associated with bilateral optic disk swelling. METHODS Retrospective case report. RESULTS A 67-year-old woman presented with sudden onset of central vision loss and subsequent bilateral optic disk edema, retinal vessel attenuation, and anterior uveitis. Cerebrospinal fluid analysis showed signs of inflammation. Spectral domain optical coherence tomography demonstrated the pathognomonic hyperreflectivity of the middle retinal layers consistent with paracentral acute middle maculopathy. Swept-source optical coherence tomography angiography with custom vessel analysis demonstrated a 18.3% decrease in the deep retinal vascular density and 2.4 times increase in absent flow area in the affected eye compared with the fellow eye. CONCLUSION This case demonstrates a novel association between paracentral acute middle maculopathy and bilateral optic disk swelling secondary to central nervous system inflammation and possible infection. Although spectral domain optical coherence tomography is valuable in detecting paracentral acute middle maculopathy, optical coherence tomography angiography with vessel analysis can provide additional insight into the disease mechanism.

Chronic recurrent multifocal osteomyelitis (CRMO) is a pediatric autoinflammatory disorder that is characterized by multiple sterile inflammatory bone lesions with a relapsing and remitting course. CRMO belongs to the autoinflammatory family of rheumatologic disorders based on absence of significant titers of autoantibodies and autoreactive T-lymphocytes. In absence of pathognomonic clinical, radiographic or pathological features, diagnosis can be challenging. CRMO shares imaging features with other diseases. It is important for radiologists to be able to differentiate other diseases from CRMO because prognosis varies from completely benign to frankly malignant. In this article we first present the clinical and imaging features of CRMO to help readers gain an understanding of the disease process, then discuss our imaging approach to CRMO and review other disease processes that sometimes share similar imaging findings to CRMO and review differentiating features to help avoid misdiagnoses.

To describe the clinical and ultrasound characteristics of ovarian carcinosarcoma.This was a retrospective multicenter study. Patients with a histological diagnosis of ovarian carcinosarcoma, who had undergone preoperative ultrasound examination between 2010 and 2019, were identified from the International Ovarian Tumor Analysis (IOTA) database. Additional patients who were examined outside of the IOTA study were identified from the databases of the participating centers. The masses were described using the terms and definitions of the IOTA group. Additionally, two experienced ultrasound examiners reviewed all available images to identify typical ultrasound features using pattern recognition.Ninety-one patients with ovarian carcinosarcoma who had undergone ultrasound examination were identified, of whom 24 were examined within the IOTA studies and 67 were examined outside of the IOTA studies. Median age at diagnosis was 66 (range, 33-91) years and 84/91 (92.3%) patients were postmenopausal. Most patients (67/91, 73.6%) were symptomatic, with the most common complaint being pain (51/91, 56.0%). Most tumors (67/91, 73.6%) were International Federation of Gynecology and Obstetrics (FIGO) Stage III or IV. Bilateral lesions were observed on ultrasound in 46/91 (50.5%) patients. Ascites was present in 38/91 (41.8%) patients. The median largest tumor diameter was 100 (range, 18-260) mm. All ovarian carcinosarcomas contained solid components, and most were described as solid (66/91, 72.5%) or multilocular-solid (22/91, 24.2%). The median diameter of the largest solid component was 77.5 (range, 11-238) mm. Moderate or rich vascularization was found in 78/91 (85.7%) cases. Retrospective analysis of ultrasound images and videoclips using pattern recognition in 73 cases revealed that all tumors had irregular margins and inhomogeneous echogenicity of the solid components. Forty-seven of 73 (64.4%) masses appeared as a solid tumor with cystic areas. Cooked appearance of the solid tissue was identified in 28/73 (38.4%) tumors. No pathognomonic ultrasound sign of ovarian carcinosarcoma was found.Ovarian carcinosarcomas are usually diagnosed in postmenopausal women and at an advanced stage. The most common ultrasound appearance is a large solid tumor with irregular margins, inhomogeneous echogenicity of the solid tissue and cystic areas. The second most common pattern is a large multilocular-solid mass with inhomogeneous echogenicity of the solid tissue. © 2021 International Society of Ultrasound in Obstetrics and Gynecology.

Catel-Manzke syndrome is characterized by hand anomalies, Robin sequence, cardiac defects, joint hyperextensibility, and characteristic facial features. Approximately 40 patients with Catel-Manzke have been reported, all with the pathognomonic bilateral or unilateral hyperphalangy caused by an accessory bone between the second metacarpal and proximal phalanx known as Manzke dysostosis. Here we present the first case of molecularly confirmed Catel-Manzke syndrome with Robin sequence but without Manzke dysostosis.

Patient: Female, 16-year-old Final Diagnosis: Serous cystadenoma ovarian cyst • twisted ovarian cyst Symptoms: Abdominal pain Medication:— Clinical Procedure: Laparatomy salpingo-ophorectomy Specialty: Obstetrics and Gynecology Objective: Management of emergency care Background: Adnexal torsion is a gynecologic emergency that dictates immediate surgical intervention. Twisted ovarian cysts are rare in adolescents, but they can cause significant distress to patients. Idiopathic ovarian torsion is uncommon in adolescents and the incidence is reportedly higher in women aged 20 to 40 years. Most twisted cysts in adolescents are benign. In the past, oophorectomy was commonly performed for a torsed ovary, but currently there is a trend toward ovary preservation. The diagnosis of twisted ovarian cyst is based on pathognomonic symptoms and findings from a focused clinical examination and ultrasound. Because the differential diagnosis includes acute appendicitis and gastroenteritis, referral to a gynecologist may be delayed. Case Report: We present the case of a huge, twisted ovarian cyst in a 16-year-old girl who presented with an acute abdomen. The initial diagnosis was acute appendicitis, which delayed her referral to a gynecologist. An emergency laparotomy and left salpingo-oophorectomy were performed. The histopathology of the ovarian cyst was reported as serous cystadenoma. Conclusions: The optimal management of a twisted ovarian cyst in adolescents is the subject of much debate. Here, we review the literature on ovarian torsion in children and adolescents. The patient in the case we present had a twisted ovarian cyst that was managed with salpingo-oophorectomy.

Aims Contemporary theories of attention-deficit/hyperactivity disorder (ADHD) and alcohol use disorder (AUD) emphasize core dysfunctions in reward-related processes and behaviors as pathognomonic characteristics. However, to date, it is unclear which domains of reward functioning are unique to ADHD versus AUD symptom dimensions, and which represent underlying shared correlates. Methods The current study employed secondary data analyses from a large community sample of emerging adults (N = 602; 57.3% female) and novel transdiagnostic modeling (i.e. bi-factor confirmatory factor analyses and structural equation modeling) of ADHD, AUD and shared symptom dimensions to identify unique and common reward-related dimensions: environmental suppressors, reward probability, hedonic capacity, proportionate substance-related reinforcement and delay discounting. Results The presence of environmental suppressors was the only reward-related construct that correlated with the underlying ADHD-AUD shared dimension. The AUD symptom dimension was uniquely associated with proportionate substance-related reinforcement, whereas the ADHD symptom dimension was uniquely associated with limited reward probability. No significant associations were found for delay discounting or hedonic capacity. Conclusions These novel findings highlight specific aspects of reward-related functioning in ADHD, AUD and shared symptom dimensions. In so doing, this work meaningfully advances theoretical conceptualizations of these two commonly co-occurring presentations and suggests future directions for research on transdiagnostic correlates. Future longitudinal studies should include clinical samples with diagnoses of AUD and ADHD to further identify underlying correlates over time.

Background: Autopsies on COVID-19 deceased patients have many limitations due to necessary epidemiologic and preventative measures. The ongoing pandemic has caused a significant strain on healthcare systems and is being extensively studied around the world. Clinical data does not always corelate with post-mortem findings. The goal of our study was to find pathognomonic factors associated with COVID-19 mortality in 100 post-mortem full body autopsies.Materials and Methods: Following necessary safety protocol, we performed 100 autopsies on patients who were diagnosed with COVID-19 related death. The macroscopic and microscopic pathologies were evaluated along with clinical and laboratory findings.Results: Extensive coagulopathic changes are seen throughout the bodies of diseased patients. Diffuse alveolar damage is pathognomonic of COVID-19 viral pneumonia, and is the leading cause of lethal outcome in younger patients. Extrapulmonary pathology is predominantly seen in the liver and spleen. Intravascular thrombosis is often widespread and signs of septic shock are often present.Conclusion: The described pathological manifestations of COVID-19 in deceased patients are an insight into the main mechanisms of SARS-CoV-2 associated lethal outcome. The disease bears no obvious bias in severity, but seems to be more severe in some patients, hinting at genetic or epigenetic factors at play.

Toxoplasmosis is a widespread parasitic disease. It is caused by an intracellular parasite Toxoplasma gondii. It can affect various tissues and organs, forming cysts and continuing to replicate within them. In people with intact immune system, tissue cysts remain in latent state throughout their whole life. However, in cases of cellular immunodeficiency the infection can be reactivated, which leads to secondary generalization of the process. People with HIV most commonly present with cerebral toxoplasmosis. Non-specific neuroimaging signs, as well as absence of pathognomonic symptoms and specific laboratory data lead to difficulties of cerebral toxoplasmosis diagnosis, particularly in the cases with a history of multiple sclerosis that has similar clinical symptoms and brain MRI data suggesting of tumefactive multiple sclerosis image. A clinical case of cerebral toxoplasmosis in a female patient with multiple sclerosis and HIV infection is described.Токсоплазмоз — широко распространенная паразитарная инфекция. Ее возбудитель — внутриклеточный паразит Toxoplasma gondii. Он поражает многие ткани и органы, формируя цисты, внутри которых продолжает медленно размножаться. У людей без нарушений иммунной системы тканевые цисты находятся в латентном состоянии в течение всей жизни. Однако при клеточном иммунодефиците инфекция способна реактивироваться, что приводит к вторичной генерализации процесса. При ВИЧ-инфекции наиболее частым проявлением является церебральный токсоплазмоз. Неспецифичная нейровизуализационная картина, отсутствие патогномоничных симптомов, неопределенные лабораторные значения приводят к затруднениям при диагностике церебрального токсоплазмоза. Особенно это касается случаев, когда в анамнезе присутствует рассеянный склероз со схожими клиническими проявлениями и данными МРТ головного мозга, соответствующими проявлениям «тумороподобного» рассеянного склероза. Представлено описание клинического случая церебрального токсоплазмоза у пациентки с рассеянным склерозом и ВИЧ-инфекцией.

AIM This report aims to provide the clinical and radiographic features of two symptomatic Indian patients with florid cemento-osseous dysplasia (FCOD), along with a discussion of the differential diagnosis, potential challenges, and therapeutic implications. BACKGROUND FCOD is a rare, multifocal, periapical, and bilateral condition involving the premolar and molar region of the posterior mandible and sometimes the maxilla. CASE DESCRIPTION The first patient is a 30-year-old female with a recent history of dental pain. The patient was otherwise healthy and the medical history was unremarkable. The second patient is a 50-year-old female with a history of orthodontic therapy. Radiographic evaluation using cone-beam computed tomography (CBCT) revealed bilateral involvement of the posterior mandible, sparing the entire maxilla in both patients Clinical significance: For a pathognomonic condition like FCOD, a radiology survey alone is often sufficient to arrive at the final diagnosis, and therefore surgical interventions should ideally be avoided.

Pulmonary alveolar microlithiasis (PAM) is a rare inherited disorder in which patients present with either nonspecific signs and symptoms or are asymptomatic. Clinical-radiological dissociation is a commonly seen feature of the disease. Majority of cases are diagnosed in second and third decade of life, although presentation in paediatric and elderly population is also reported. Pathognomonic radiological findings, with normal calcium and phosphate levels can confirm the diagnosis without the need of further investigations in large number of cases. A high index of suspicion and knowledge of the disease is of paramount importance as it has a wide range of presentation and variable course thus posing a diagnostic challenge. We present two cases of this rare disease in elderly females with distinct presentations although with similar and characteristic radiological findings along with a brief review of literature of the disease.

Although endoscopic biopsy of a rectal submucosal nodule may be nondiagnostic, endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) can be an important tool to make diagnosis. We report a case of a female patient who had an EUS-FNA of a submucosal nodule after a nondiagnostic rectal biopsy. The original diagnosis was erroneously rendered as concerning for necrotic neoplasm. The correct diagnosis of Solesta-induced foreign body reaction was made on reviewing the slides once the history of remote Solesta injection was made available. This case illustrates the pathognomonic features of Solesta-induced rectal nodule and underscores the importance of detailed history as well as inclusion of iatrogenic diseases in the differential to prevent erroneous diagnosis and management. Potential pitfalls in cytopathological diagnosis are discussed.

AimsThe goal was to find if changes in Fabry keratopathy were clinically observable over time. Also observed were variations of Fabry keratopathy, supplemental features, unique presentations and differences between keratopathies of right and left corneas and the same family and genotype.MethodsBiomicroscopic images of Fabry keratopathy in 10 persons with classic Fabry disease, 5 men and 5 women, were captured over an 18-month period. The keratopathies were categorised and scrutinised for changes over time, and differences between corneas of the same individual, family and genotype.ResultsFabry keratopathy ranged from mild change to marked change over 18 months. There was a great variety of whorl patterns. A few keratopathies were amorphous without vortices and many vortices were supplemented with amorphous features. All keratopathies were accompanied by diffuse epithelial haze. There was a range from negligible difference to marked difference between right and left eyes of the same individuals with similarities appearing as imprecise mirror images of each other. In some corneas, prominent vertical streams from the superior limbus integrated into the primary keratopathy. Comparisons between persons with the same family and genotype were obscured by gender and differences between right and left eyes.ConclusionsPractitioners should be better able to detect Fabry disease having a fuller understanding of the variety of presentations of the dynamic, pathognomonic Fabry keratopathy. Routes of continuous centripetal renewal of corneal epithelium are spatially unique to each eye, in some cases subsidised by direct contribution of basal cells streamed from the superior limbus.

Lymphangioleiomyomatosis (LAM) is a rare diffuse lung cystic disease (DLCD) that occurs sporadically or in association with Tuberous Sclerosis Complex (TSC). The diagnostic pathway is tracked on the identification of the disease hallmarks on chest High-Resolution Computed Tomography (HRCT). Aim of this review is to discuss the thoracic HRCT pathognomonic features, essential to rule out other DLCD. It also examines the new evidences emerging from Computed Tomography (CT) quantitative studies that, by demonstrating a specific cysts distribution and a pathological aspect of the parenchyma near the cysts, could improve our understanding of this rare disorder and supply pulmonologists with a new tool for a more appropriate long-term management. Finally, the contribution of other image techniques as low dose chest CT, Magnetic Resonance Imaging (MRI) and Ultrasound (US) is discussed.

Background Diverse adipose lesions can affect peripheral nerves, including an intrinsic disorder known as lipomatosis of nerve (LN). This condition leads to massive nerve enlargement and has often been associated with nerve territory overgrowth. Although LN has been well documented as a peripheral lesion, it is uncertain whether LN can occur or extend intradurally. Methods In the present 2-part study, we searched our institutional database and the world literature to identify any case of LN occurring or extending intradurally. Strict pathognomonic imaging and histopathologic features of LN were required to be present. Results We did not identify any case of LN that had occurred or extended intradurally in our institution. Specifically, in our database, we found no case of intradural LN, and an evaluation of the imaging studies of proximal examples of LN did not show any extension proximal to the spinal foramen. Our literature search identified 208 reports of potential interest, of which only 3 had reported on spinal LN. Although 2 of the 3 cases showed some similarities to LN, none had demonstrated features diagnostic for LN and none had demonstrated nerve territory overgrowth. A review of 16 cases of LN in proximal locations summarized in a recently reported systematic review did not reveal any cases with LN proximal to the foramen or in an intradural location. Conclusion A review of our institutional cases and reported cases did not show any example of LN extending or occurring intradurally. It appears that LN is a benign tumor-like nerve lesion that is without a central location, unlike more well-known tumors such as schwannomas.

Odontogenic tumors present as locally invasive, slow growing, firm swellings on the face. They are rare in all species and are characterized histologically by the degree of differentiation and dental tissue of origin. Radiographic appearance is not pathognomonic for these lesions. Computed tomographic (CT) examination allows exact determination of tumor extension and aggressiveness. The objectives of this retrospective, case series study were to describe the clinical presentation, CT characteristics, and outcome in horses with histologically confirmed odontogenic tumors, and to identify imaging features suggestive of individual types of tumors. Four ameloblastomas, two ameloblastic carcinomas, three ameloblastic fibromas, and two complex odontomas were included. All but one complex odontoma presented as a single mass. All tumors were associated with maxillary or mandibular bone expansion, alveolar and cortical bone lysis, and cortical bone thinning. The majority also had cortical bone thickening and periosteal proliferation. All tumors contained some degree of mineral attenuation, although only the complex odontomas contained enamel attenuation allowing differentiation from other types of odontogenic tumors in this study. Ameloblastomas were found to have variable CT characteristics likely due to the sub-groups of ameloblastomas. Both ameloblastic carcinomas contained a mixture of mineralized and soft tissue attenuating material whereas ameloblastic fibromas were mainly composed of soft tissue attenuating material. Computed tomographic characteristics of odontogenic tumors generally indicate that they are expansile, aggressive tumors and can occur in a wide range of ages. Further investigation is needed to elucidate differences between each type of equine odontogenic tumor.