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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.

Pain abdomen in the children in the tropics is an intriguing problem. In the tropical region, pain abdomen in children harbinger physiological conditions like infantile colic to life-threatening pancreatitis. Ambiguous presentations and nonverbal communications in these children make decision-making challenging. For timely diagnosis, an index of suspicion is a must. In the absence of pathognomonic features of underlying conditions, the repeated examination is mandatory. Early treatment will prevent many catastrophes in these children. This review will focus on different disease conditions in the tropics which present as pain abdomen in the children. Newer modality in investigation and paradigm shift in the management of some conditions will be highlighted.

Autosomal recessive polycystic kidney disease, described as a congenital hepatorenal fibrocystic syndrome, is a significant inherited cause of end stage renal failure in children with reported incidence of 1 in 20,000 live births. The clinical spectrum is wide. Antenatal findings of echogenic reniform enlarged kidneys associated with evidence of intrauterine renal failure in the form of severe oligoamnios are pathognomonic. Postnatal illness ranges from fatal respiratory failure due to pulmonary hypoplasia in neonates to chronic kidney disease in children, or later presentation of ductal plate malformation and portal hypertension. Advances in genetic diagnostic techniques have allowed recognition of genotypes. We report a novel homozygous missense variant on exon 22 of PKHD1 gene (chr6:51915067G > A; c.2167C > T) that results in the amino acid substitution of cysteine for arginine at codon 723 (p.Arg723Cys). The affected neonate presented with antenatal anhydramnios, classical radiological features, and severe hypoxic respiratory failure likely due to pulmonary hypoplasia and succumbed. The parents were found to be heterozygous carriers. Detection of the specific variant in the proband facilitated prenatal investigation in the next pregnancy.

Introduction: Diagnosing minimally displaced femoral PPFs using plain-film radiographs can be challenging. As a result, fractures can be missed. Case Report: We present four cases of minimally displaced PPFs around cemented polished tapered stems. In each case, radiographs demonstrate no clear cortical breach, but the presence of a fracture is highlighted by a pathognomic lucent line between the cement mantle and the prosthesis: The Lucent Line Sign. Conclusion: Paying attention to the Lucent Line Sign can be pivotal in the diagnosis of minimally displaced PPFs around cemented polished tapered stems. Keywords: Periprosthetic fracture, hip fracture, femoral fracture, taper-slip stem, polished-tapered stem, radiographs.

Kaposi's sarcoma (KS) on oral mucosa is an important indicator of probable HIV- infections. Materials and methods. 15 patients with KS were under observation; of which 7 were with early manifestations of KS on oral mucosa (5 were with HIV-associated KS, 2 — with idiopathic KS). All patients were examined for HIV. Diagnosis of KS is histologically verified. Results. Early manifestations of KS on oral mucosa are combined with analogical rashes on an open areas of the skin in large majority of patients (64—100%, p=0,05). It is the unified mucocutaneous syndrome in KS. Early manifestations of KS only on oral mucosa develop rather rare. Early pathognomonic signs of HIV-associated KS and idiopathic KS may be clinical similar — on oral mucosa and on the skin. These signs are presented in “classic” triad [M.Kaposi]: multiple, hemorrhagic, “pigmented” (dark-violet, dark-purple, brownish-lilac) spots, plaques. Conclusion. Recognition of mucocutaneous syndrome improves the information of clinical data. Serological HIV-test should be prescribed without waiting for histological confirmation of SK.

Highlights • Primary synovial sarcoma (SS) of the stomach is a very rare disease. • To date, only 39 gastric SS cases have been reported in the literature. • Here is a report of a surgically resected primary gastric SS case and a review of the corresponding literature., Introduction Synovial sarcoma (SS) is a mesenchymal neoplasm that is characterized by its unique histological pattern and is most commonly found near the joints of the extremity. Stomach involvement is very rare. This work aimed to present the case of a patient with gastric SS. We also conducted a review of 39 gastric SS cases reported in the literature. Presentation of case Here we report a case of primary gastric synovial sarcoma in a 32-year-old male patient revealed by gastric reflux. Partial gastrectomy was performed showing a 35 mm lesion with a high spindle cell component. Immunohistochemistry revealed 18q11.2 translocation expression in most of the cells asserting a diagnosis of SS. No local or distant recurrence occurred at 8 months post-operative follow-up. Discussion The majority of SS occurs in the extremities and is most often associated with tendons in the large articulations of young adults. Gastric SS are very scarce and a molecular biology approach to detect the SYT-SSX fusion gene is required for conclusive diagnosis. We carried out a clinical review of the 40 cases of primary gastric SS, including our case. They all underwent an excisional surgery, most of them by partial gastectomy or wedge resection. Recurrences were rare and early when they occurred. Conclusion Gastric SS is a very uncommon neoplasia although it is henceforth a described entity. Immunohistochemical detection of a pathognomonic translocation is needed to make the diagnosis of SS. Best therapeutic approach for these tumors remains surgical resection with no specific excisional technique recommended.

Neoplastic alopecia (NA) is defined as an organized hair loss in single or multiple areas of the scalp caused by a primary tumor that has metastasized to the skin of the scalp. Due to its localization and clinical appearance, NA should be placed in differential diagnosis with alopecia areata or other entities. To date, pathognomonic dermoscopic criteria of NA have not yet been described: the absence of classical criteria of other scalp diseases in addition to a major neovascularization with on-focus arborizing vessels and erosions or ulcerations may help the clinician to suspect a diagnosis of secondary alopecia. Dermatologists should pay more attention to these rare forms of secondarism because in exceptional cases, a simple alopecia of the scalp can hide a new, relapsing or metastatic neoplasia.

Phlegmasia cerulea dolens (PCD) is a rare and important diagnosis to consider in the setting of a painful, swollen, and cyanotic lower extremity. We report a 59-year-old female diagnosed with PCD 3 days status post extended head and neck surgery with additional imaging findings concerning for May-Thurner anatomy. This case presentation is pathognomonic for PCD. Risk factors, pathogenesis, and management are described.

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.

Highlights • Peutz-Jeghers syndrome (PJS) is an inherited polyposis syndrome. • PJS-characteristic hamartoma polyps occur in the gastrointestinal (GI) tract. • In patients with intussusception, the presence of a hamartoma polyp may have been the trigger. • Hamartoma polyps in the GI mucosa and hyperdense macular lesions on the lip and buccal mucosa are pathognomonic signs of PJS., Introduction Peutz-Jeghers syndrome (PJS) is an uncommon autosomal dominant syndrome with a variable to high penetrance that leads to the development of polyps within the gastrointestinal mucosa. Here we report a case of an adult female suffering jejunoileal intussusception due to PJS. Presentation of case A 30-year-old woman came to an emergency department with a small bowel obstruction caused by intussusception. The patient underwent an emergency exploratory laparotomy. An intussusception at the level of 60 cm from the ligamentum treitz was revealed, and the intussusception small bowel segment was not viable; we decided to perform segmental jejunoileal resection with the Bishop-Koop procedure, and the specimen histopathology of the segmental jejunoileal resection showed a typical hamartomatous polyp features. Two month later, diagnostic endoscopy showed multiple polyps (between 5 and 15 mm) in the large bowel. The polyps were removed with endoscopic polypectomy and examined histopathologically, showing characteristics of PJS. Further detailed family history was obtained, and similar skin lesions were detected on our patient’s child (since birth). Although endoscopy screening identified multiple polyps in the child’s ileum and large bowel, he was not suffering from abdominal symptoms. Conclusion In patients with intussusception at a young age, PJS can be caused by the presence of a hamartoma polyp as a trigger for intussusception. If there are multiple polyps found in the gastrointestinal mucosa and other pathognomonic signs are found, such as hyperdense macular lesions on the lip and buccal mucosa, such cases should be confirmed as PJS.

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.

Objectives: Biallelic pathogenic variants in CYPA24A1 and SLC34A1 are causes of idiopathic infantile hypercalcemia. Pathogenic variants in both may also give rise to hypercalciuria with nephrocalcinosis or nephrolithiasis without previous hypercalcemia (renal group). Our objective was to examine the frequency of CYP24A1 or SLC34A1 variants in children with early hypercalcemia or late-onset hypercalciuria. Method: Forty-one children from 7 centers across Canada were recruited. Local investigations were undertaken. The serum was evaluated by liquid chromatography tandem-mass spectrometry for the ratio of 25-hydroxyvitamin D3 to 24,25-dihydroxyvitamin D3, (25-OH-D3:24,25-(OH)2D3), an elevation pathognomonic for the loss of function of the CYP24A1 enzyme. Mutational analyses were undertaken. Family cascade screening was performed if pathogenic variants were detected in probands. Results: Twenty-nine children had early-onset hypercalcemia; none had elevated 25-OH-D3:24,25-(OH)2D3 or variants. Interestingly, 2 of 12 in the renal group had elevated 25-OH-D3:24,25-(OH)2D3 and presented as preadolescents. In case 1, cascade testing revealed a sibling and parent with asymptomatic pathogenic variants in CYP24A1. Four CYP24A1 pathogenic variants were identified in these 2 probands: 3 have been described in European populations, and 1 is a rare variant in exon 7 (c931delC) that is likely pathogenic. No SLC34A1 pathogenic variants were detected. Conclusion: In Canada, pathogenic variants in CYP24A1 appear to manifest with late-onset hypercalciuria and its sequelae. The 25-OH-D3:24,25-(OH)2D3 ratio is an excellent tool for screening for biallelic pathogenic variants in CYP24A1. We confirm that cascade testing is important for these variants.

Background: Cutaneous tuberculosis refers to the clinical manifestation of extrapulmonary tuberculosis affecting the skin. Determining the type of cutaneous tuberculosis from a patient afflicted with is challenging because clinical and histopathological similarities exist between types. Moreover, confirming a diagnosis of cutaneous tuberculosis is difficult because of its similarity with other diseases. For instance, typical and atypical cutaneous tuberculosis may have similar manifestations, but each disease is managed by completely different approaches. Microbiological examination with polymerase chain reaction and bacterial culture are the gold standard methods used to confirm a diagnosis of cutaneous tuberculosis. However, results often demonstrate negative findings. Case Illustration: Five cases of cutaneous tuberculosis, which include two cases of tuberculosis verrucosa cutis, two cases of scrofuloderma, and one case of lupus vulgaris were presented in this article. Four of the five cases demonstrated significant improvement after initiation of an antituberculosis drug regimen. Discussion: Diagnosis of cutaneous tuberculosis in these cases was confirmed through clinical findings and histopathological and microbiological examination. Conclusion: A negative result following microbiological examination does not completely exclude the diagnosis of cutaneous tuberculosis. Investigating the pathognomonic findings of cutaneous tuberculosis through histopathological examination is important to differentiate among its types correctly. Therefore, correlations between clinical and histopathological results are essential to establish a diagnosis of cutaneous tuberculosis.

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: Clinical characteristics of the peculiarities of non-specific skin lesions with patients having malignant lymphomas (ML).Methods: 130 patients having malignant lymphomas were observed, 50 patients – having Hodgkin’s lymphomas, 38 patients - B-cell lymphomas and 42 patients – T-cell lymphomas.Results: Six main types of nonspecific lesions are defined among patients having malignant lymphomas: 1) skin lesions of auto toxic genesis, 2) skin lesions determined with vascular pathology, 3) skin lesions due to hemolysis and hemostatic disorders, 4) skin lesions of those having cryoglobulinemia/cryofibrinogenemia, 5) skin lesions due to metabolic disorder, 6) infectious diseases.Conclusions: Lesions of auto toxic genesis and infectious diseases prevail among nonspecific skin changes when having malignant lymphomas. Patients having Hodgkin’s lymphomas experience dermal itching more often. Among B-cell lymphomas skin lesions are more pathognomonic for chronic lymphocytic leukemia, among T-cell lymphomas – for fungal mycosis. Nonspecific skin lesions, having arisen before typical clinical picture of malignant lymphomas allow to suspect and diagnose the main illness on time. Disappearance of skin lesions against the background of specific therapy can bear evidence to the efficiency of the malignant lymphomas’ treatment.

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.

This article considers capillaroscopic changes in the patients with systemic sclerosis compared to the patients with a group of rheumatological diseases (rheumatoid arthritis, polymyositis, osteoarthritis) and the patients with idiopathic pulmonary hypertension. All the patients diagnosed with systemic sclerosis according to nailfold capillaroscopy had a characteristic combination of capillary disorders (Raynauds syndrome): the expansion of all three segments of the capillary loop, the loss of capillaries, and the destruction of the nail fold. In the comparison groups, the capillaroscopic picture was represented by single pathological changes that did not add up to the pathognomonic scleroderma patterns, with the exception of the groups with dermato/polymyositis, where 2 patients had significant Raynauds syndrome. There were also significant differences in the density of the capillaries in the patients with systemic sclerosis in comparison with the other groups.

Objective: To find the MUAC cut-off for detection of severe acute malnutrition in infants between 1to 6 months of age. Material and Methods: A prospective observational study at IPD and OPD of atertiary care hospital. 303 infants between one and six months of age above the length of 45cmswere included in the study. In infants between one and six months of age, the length, weight, andMUAC were measured. SAM infants were identified using the WHO definition. Sensitivity, specificity,and Youden index for a particular MUAC was calculated in SAM infants. Results: 11cms was found tohave a sensitivity of 85.1% and specificity of 65.9%. It had the maximum Youden index of 0.55 witha positive likelihood ratio of 2.79 and a negative likelihood ratio of 0.21. Conclusions: MUAC of11cms can be used as a cut-off for SAM infants between 1 to 6 months of age. MUAC does not varywith gender. Weight and MUAC are significantly lower in SAM infants. But there is no difference whenit comes to length as in acute malnutrition, the weight and MUAC are affected but length is not.

Aim. A clinical description of disseminated skin melanoma with endoscopic observation of its pathognomonic pigmented metastases into the stomach.Key points. A 66-yo patient was hospitalised with dyspnoea, general weakness, cough and suspected community-acquired pneumonia. The patient had a complex examination, including computed tomography, which revealed a presumed malignancy of the right lung with secondary changes in the chest and abdominal organs. Esophagogastroduodenoscopy (EGDS) visualised multiple pigmented spots and raised black plaques in cardia and the gastric body diagnosed as a metastasising melanoma in stomach. Endoscopic verification of the metastases confirmed the correct diagnosis of primary skin melanoma.Conclusion. Metastatic melanoma of the gastrointestinal tract has non-specific symptoms and most often occurs during the dissemination process. Endoscopy should be used to correctly verify pigmented mucosal lesions, necessarily allowing for non-pigmented gastric neoplasms in patients with skin melanoma in history.

Pancreatic ductal adenocarcinoma (PDAC) is one of the major causes of death in the Western world, and it is estimated to become the second leading cause of tumour-related mortality in the next 10 years. Among pancreatic cancers, ductal adenocarcinomas are by far the most common, characterised by a challenging diagnosis due to the lack of initial and pathognomonic clinical signs. In this scenario, non-metastatic locally advanced pancreatic cancer (LAPC) accounts for a large proportion of all new pancreatic ductal adenocarcinoma diagnoses. There is no consensus on a common definition of LAPC. Still, it usually includes tumours that are not resectable due to vascular involvement. As of today, treatment is limited, and the prognosis is very unfavourable. Curative-intent surgery remains the gold-standard even if often jeopardized by vascular involvement. Continuing progress in our understanding of LAPC genetics and immunology will permit the development of different treatments, targeted or combined, including radiation therapy, hadrontherapy, targeted immunotherapies or new chemotherapies. A multidisciplinary approach combining various fields of expertise is essential in aiming to limit disease progression as well as patient outcome. Using a narrative literature review approach, the manuscript explores the most up-to-date knowledge concerning locally advanced pancreatic ductal adenocarcinoma management.

Vitiligo is a common skin disease characterized by idiopathic progressive skin hypomelanosis. Vitiligo is associated with several comorbid autoimmune diseases such as localized scleroderma. This article demonstrates the general development mechanism of these pathologies, as well as the key aspect of cross-effect between autoimmune diseases on the molecular level. Recently, dermatologists have noted the increasing number of patients suffering from combined pathologies. Such patients (in pediatrics) have torpid course of disease and no pathognomonic symptoms. That exaggerates the diagnostics and adequate therapy prescription. This leads to increased awareness among physicians of different specialties on possible combinations, clinical presentation and pathogenesis aspects of such conditions.

Undifferentiated abdominal pain is a common presentation often requiring immediate medical or surgical intervention. Providing an accurate diagnosis involves a detailed patient history and thorough physical exam. Point of care ultrasound is gaining acceptance as a rapid diagnostic tool that can be used to accurately detect life-threatening conditions while potentially avoiding unnecessary radiation exposure and facilitating rapid treatment. Detection of pneumoperitoneum with point-of-care ultrasound is a simple procedure that relies heavily on the experience of the investigating practitioner. Standard technique involves placing a high-frequency linear-array transducer in the right upper quadrant, where abdominal free air is most likely to accumulate. Detection of the ‘gut point’, which is the transition of abdominal wall sliding to lack thereof in a single image, is the pathognomonic finding of pneumoperitoneum. If visualization is difficult, moving the patient to the left lateral decubitus position or using the scissors technique can provide additional image views. This representative case report and review highlights the use of abdominal POCUS for the diagnosis of pneumoperitoneum. Ultrasound should continue to be explored by clinicians to narrow the differential diagnosis of acute abdominal pain.

Background: Currently, there is no scientifically based diagnostic complex for diffuse axonal brain injury (DAI) which allows to reveal its morphological substrate and determine the time elapsed after it, especially in the early post-traumatic period. Aims: The aim of the study was to identify of morphological changes in the corpus callosum in various post-traumatic periods after DAI. The material of the study is the corpus callosum of victims who died from traumatic brain injury with DAI within the first hour (group I, n=25), in the period from 1 to 12 hours (group II, n=30) and in the period from 12 to 48 hours (group III, n=17) before the death. The control group of the study comprises the corpus callosum (n=25) of those who died from various causes of non-violent and violent death (without any head trauma). Results: The main diagnostic criterion for DAI is represented by hemorrhages in the substance of the corpus callosum truncus. The proposed complex of morphological changes in the neuro-gliovascular module will allow to determine the time elapsed after DAI. Conclusions: DAI as a special type of traumatic brain injury is manifested by a pathognomonic complex of pathomorphological changes in the deep structures of the brain, including the corpus callosum. Objectification of the time elapsed after DAI should be based on a comparative assessment of all morphological features of the identified neuro-gliovascular module, while its individual features can not be considered as diagnostic.

Clinical features of soft tissue amyloid light-chain (AL) amyloidosis include macroglossia, arthropathy, muscle pseudohypertrophy, skin plaques, and carpal tunnel syndrome. Vascular manifestations of AL amyloid include periorbital ecchymosis, jaw or limb claudication, and even myocardial infarction caused by occlusion of small vessel coronary arteries. Some of these features, such as macroglossia, periorbital ecchymosis, and the so-called shoulder-pad sign, are pathognomonic for AL amyloidosis. These findings may be the initial presenting features of the disease, and the recognition of these red flag symptoms is very important for the diagnosis and early intervention on the underlying plasma cell disease.

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.

Melon seed bodies are a non-specific manifestation of chronic synovial inflammation associated with various arthritides such as tubercular, rheumatoid, and seronegative arthritis. Characteristic magnetic resonance imaging (MRI) appearance of these bodies differentiates them from other differential diagnoses (such as synovial chondromatosis and pigmented villonodular synovitis). Ultrasonography and MRI, in combination with clinical and laboratory details, can suggest the possible etiology. Medical management of the underlying cause, along with arthroscopic removal of pathognomonic bodies, is the preferred treatment.

Establishing the diagnosis of classical Hodgkin lymphoma (cHL) in a timely fashion can be a challenge, as there are no pathognomonic signs or symptoms. The percutaneous needle biopsy (CNB) of the tumor gained increased popularity due to its minimal invasiveness and expeditious recovery from procedure. The diagnostic accuracy of CNB depends upon patient size, mass accessibility, and feasibility to obtain diagnostic tissue assuming that the tumor is histologically homogenous. We report on a patient with cHL who underwent multiple CNB from different sites before the diagnosis was established. Yet, only the incisional biopsy of the most metabolically-active tumor site resulted in diagnostic success. It is imperative to thoroughly consider both the biopsy method and the biopsy site for establishing correct diagnosis.

Mucopolysaccharidosis type-II (MPS-II) is an X-linked lysosomal storage disorder. Here, we report an 8-year-old boy with pebbling sign in the scapular region, coarse facies, claw hand, diastolic murmur, and hepatomegaly. With decreased iduronate-2-sulfatase activity and hemizygous mutation in the IDS gene, the diagnosis was MPS-II. Pebbling sign is a rare but pathognomonic sign of MPS-II.

Cytauxzoon felis is a tick-borne haemoprotozoan parasite that often causes fatal disease in domestic cats. Histological studies have described substantial pulmonary pathology due to cytauxzoonosis. Published reports were not found describing the thoracic radiographic signs associated with acute cytauxzoonosis in cats. The purpose of this retrospective descriptive study was to describe thoracic radiographic findings in a group of felines with confirmed acute cytauxzoonosis. A total of 37 cats with confirmed cytauxzoonosis and with available thoracic radiographs were included. A subset of 7 cats in this sample also had histopathologic evaluation of their lung parenchyma. Thoracic radiographs were retrieved and reviewed. A bronchial pulmonary pattern was identified as the most common finding (n = 27/37; 73%). Other radiographic findings included cardiomegaly (n = 19/37; 51%), interstitial pattern (n = 17/37; 46%), pleural effusion (n = 12/37; 32%), arterial vascular distension (n = 10/37; 27%), arterial and venous distension (n = 10/37; 27%), and venous distension (n = 1/37; 3%). The primary histological features present in 7 cats with additional histopathologic evaluation, similar to previously published studies, were vascular occlusion. Our study suggests that, despite severe histologic evidence of disease, there are no pathognomonic thoracic radiographic findings in cats with acute cytauxzoonosis.

The inhibiting effects of itraconazole, an antifungal drug on vascular endothelial growth factor (VEGF) have recently been discovered. By inhibiting VEGF, itraconazole has shown potential in clinical trials as anti-cancer treatment. In hereditary hemorrhagic telangiectasia (HHT) patients, VEGF levels are elevated and inhibition of VEGF can decrease bleeding. Itraconazole could potentially serve as anti-angiogenic therapy for HHT-related bleeding. We report a proof of concept study with HHT patients and severe epistaxis. Patients were treated with daily 200 mg orally administered itraconazole for sixteen weeks. Twenty-one HHT patients, 8 females (38%), 13 males (62%), median age of 59 years (interquartile range (IQR) 55–69) were enrolled. Of these patients, 13 (62%) were diagnosed with HHT type 1, seven (33%) with HHT type 2 and in one patient (5%), no pathognomonic HHT mutation was found. Four patients (19%) prematurely terminated the study (3 due to mild or moderate side-effects) resulting in 17 patients included in the analyses. The median epistaxis severity score significantly decreased during treatment from 6.0 (IQR 5.1–7.2) to 3.8 (IQR 3.1–5.2) (p = 0.006). The monthly epistaxis frequency decreased from 56 to 38 epistaxis episodes (p = 0.004) and the monthly duration from 407 to 278 minutes (p = 0.005). Hemoglobin levels did not significantly change. The quality of life showed a small but significant improvement. In conclusion, oral itraconazole significantly improved epistaxis in HHT patients. The potential benefit of itraconazole in HHT should be further investigated.

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.

Dermatologic manifestations of systemic diseases provide distinctive and reliable diagnostic clues that hasten time to intervention and improve overall outcomes. Notably, nutritional deficiencies are a class of diseases with representative and well-established dermatologic associations. Nutritional deficiencies can be primary or secondary and genetic or acquired; however, mucocutaneous findings remain characteristic irrespective of etiology. This review will summarize the major classifications of nutritional deficiencies with a focus on conditions relevant and of greatest impact to the geriatric population. Recent literature has largely supported the well-known, pathognomonic mucocutaneous findings associated with nutritional deficiencies as well as displayed atypical clinical presentations and elucidated pathophysiologic mechanisms, which increases awareness and expands the breadth of knowledge of these disorders. Total and specific micronutrient deficiencies can produce a vast array of mucocutaneous findings. These dermatologic manifestations of nutritional deficiencies are critical for all clinicians to recognize to enable prompt diagnosis and treatment. The geriatric population is specifically at-risk and attentiveness towards subtle signs of disease may substantially improve overall health outcomes.

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.

Anaplastic pancreatic carcinoma is a very rare histological subtype of pancreatic cancer, which is characterized by a more aggressive course than for conventional ductal adenocarcinoma. In this article, we consider the features of the clinical course, the difficulties of diagnosis in connection with the absence of pathognomonic signs of pancreatic cancer, and the morphological picture of this disease in a patient 60 years of age. This clinical case clearly demonstrates the complexities of the pancreatic carcinoma diagnosis, fast disease progression, and extremely unfavorable prognosis. It is important for clinicians to remember that this pathology often has a subclinical course, and the oncomarker levels are not always true.

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is causing a massive outbreak throughout the world. In this period, diseases other than coronavirus disease (COVID-19) have not disappeared; however, it is hard for doctors to diagnose diseases that can mimic the clinical, radiological, and laboratory features of COVID-19, especially rare lung diseases such as acute eosinophilic pneumonia (AEP). We report the clinical case of a young patient who presented to the Emergency Department with respiratory failure and clinical symptoms, radiological aspects, and blood tests compatible with COVID-19; two swabs and a serology test for SARS-CoV-2 were performed, both resulted negative, but the respiratory failure worsened. Peripheral eosinophilia guided us to consider the possibility of a rare disease such as AEP, even if radiology findings were not pathognomonic. Therefore, we decided to perform a flexible bronchoscopy with bronchoalveolar lavage (BAL) at the lingula, which showed the presence of eosinophilia greater than 40%. As a consequence, we treated the patient with high-dose corticosteroids that completely resolved the respiratory symptoms. This case report highlights the difficulty of making alternative diagnoses during the COVID-19 pandemic, especially for rare lung diseases such as AEP, which may have initial characteristics similar to COVID-19.

Background Urothelial carcinoma shows wide plasticity and broad morphologic spectrum. In many instances, the presence of papillary morphology is reassuring of the urothelial histogenesis of a high-grade invasive lesion but is not pathognomonic. Case presentation We reported herein four cases of carcinomas in the bladder with papillary morphology that had a final diagnosis different from urothelial carcinoma (3% of cases in a 42-month period). In high-grade tumors involving the urinary tract, the presence of papillary/pseudopapillary morphology is not sufficient to render a diagnosis of papillary urothelial carcinoma. Prostate adenocarcinoma, primary bladder adenocarcinoma or metastasis must be excluded in selected case scenarios.

Author(s): Walker, Amber R.; Morales-Yurick, Teresita | Abstract: Introduction: Lyme disease typically presents with viral-like symptoms and a pathognomonic rash. With disease progression, symptoms of nervous system involvement usually include facial nerve palsy and meningitis, but other atypical neurologic manifestations have less commonly been documented.Case Report: A six-year-old male presented with prolonged fevers, rash, headache, and non-specific neurologic symptoms. The diagnosis of neuroborreliosis with meningitis and polyradiculitis was confirmed with laboratory evaluation and lumbar puncture.Conclusion: Neuroborreliosis is a disseminated form of Lyme disease. While meningitis is a common sign, the presentation of polyradiculitis in children is rare and can lead to misdiagnosis and delay in treatment.

Tolosa-Hunt syndrome is a rare disorder characterized by granulomatous inflammation involving the cavernous sinus, superior orbital fissure, and/or orbit with no additional underlying cause. Tolosa-Hunt syndrome most often presents with painful ophthalmoplegia involving one or multiple cranial nerves. Here we report the case of an 8-year-old girl who presented, atypically, without the hallmark finding of pain. This case of pediatric Tolosa-Hunt syndrome is the only reported example to date lacking what is considered its pathognomonic feature and thus brings to light the clinical variability of this already inconspicuous disorder.

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.

Highlights • Primary intraosseous carcinoma arising in a dentigerous cyst is a rare observation. • There are no clinical or radiological pathognomonic characteristics and the diagnosis is often made fortuitously. • A surgical excision with clear margin is the cornerstone of treatment. • A systematic and careful microscopic analysis of any cyst, even if look like benign, should be undertaken., Introduction Carcinomas arising in odontogenic cysts are uncommon. Malignant transformation of a dentigerous cyst is a rare observation. A primary intraosseous carcinoma from a dentigerous cyst in a 69 years old female is presented in this case report. Presentation of case The patient initially consulted for pain in the mandibular left molar region. Primary investigations firstly showed a probably benign lesion but immunochemistry analysis finally revealed a squamous cell carcinoma arising in a dentigerous cyst. An extension assessment was performed and no evidence of lymph node extension or distant metastasis were found. A non-interrupting mandibular bone resection without neck dissection was realized. The patient made a good recovery after surgery without postoperative complication. No clinical symptoms or sign of local recurrence or metastasis was detected after 17 months follow-up. Discussion PIOC arising in a dentigerous cyst is a rare observation. PIOC from odontogenic cysts have an incident rate of 0,3 to 2% and only 16%–51% of them are PIOC from dentigerous cyst. There are no clinical or radiological pathognomonic characteristics. They often look like benign lesion and the diagnosis is often made fortuitously. A surgical excision with clear margin is the cornerstone of treatment. Clinical and radiological follow-up of the patient is recommended. Conclusion This case underlines the importance of a systematic and careful microscopic analysis of any lesion, even benign at first sight. Surgeons and pathologists should be aware of the malignant potential of odontogenic cysts. This can modify the surgical management and the follow-up of the patient.

A 66-year-old male was found unresponsive and diagnosed with acute carbon monoxide poisoning, with pathognomonic findings on radiological imaging. During his first day's the patient underwent acute neurological deterioration; however, this was followed 2 weeks later with a subsequent improvement to near baseline. The improvement back to baseline was short-lived, and the patient quickly worsened and underwent neurological decompensation. These findings were consistent with delayed post hypoxic leukoencephalopathy, serious sequelae of carbon monoxide poisoning. This case report shows the importance of recognition of carbon monoxide toxicity and aims to improve accurate diagnosis of the sequelae that may follow using computed tomography and magnetic resonance imaging sequences, magnetic resonance spectroscopy in order to prevent or ameliorate further neurological decline.

Coats’ disease was first described by George Coats, as a unilateral retinal vascular abnormality.Coats’ disease is a nonhereditary, idiopathic disease presenting with vascular telangiectasia withintraretinal and subretinal exudation with no racial preponderance and systemic associations. Coats’disease presents with a wide ambit of clinical features- vision loss, strabismus, leukocoria, ornystagmus. The three classical features that are pathognomonic of Coats’ are exudative retinaldetachment, telangiectatic vessels, and peripheral retinal ischemia. The modalities for treatment ofCoats disease that can be used are laser photocoagulation, anti-VEGF agents, or a combination ofboth and cryotherapy. This article describes a case report of a 10-year-old male child withcomplaints of painless loss of vision, his ophthalmological evaluation, and the treatment isundertaken.

The liver is the main organ responsible for the biotransformation and elimination of drugs, and therefore its function is often impaired by different medications. In this article, the authors inform practical health care professionals about the possible liver damage with cholestasis caused by drugs (DILI). Most often, DILI is caused some antibacterial drugs, steroids, barbiturates and some other drugs. DILI has no pathognomonic clinical manifestations. tte scientific literature describes both an asymptomatic increase of “liver” enzymes and the development of acute liver failure. Important diagnostic methods are the collection of anamnesis (especially the medicinal one), analysis of blood biochemical tests, and data from visual diagnostic methods. If the patient has DILI, it is necessary, whenever possible, to stop intake of a drug. ttere are no specific drugs recommended for pharmacotherapy of DILI but there is some the positive effect of ademetionine and ursodeoxycholic acid. ttere are no specific preventive measures for DILI. Healthcare practitioners are recommended not to use drugs off-label, optimize pharmacotherapy and fight with polypharmacy, monitore biochemical tests regularly etc.

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.

Relevance. Ewingʼs sarcoma (ES) is a classic representative of the extensive family of ES tumors, which occupies one of the leading positions among the malignant pathology of the musculoskeletal system in children and adolescents. This group is characterized by an extremely large variety of morphological, immunohistochemical, and molecular genetic characters among its representatives. The absence of specific pathognomonic markers for ES, as well as the presence of wide variability of clinical manifestations complicates the differential diagnosis. Materials and methods. The study included patients of childhood and adolescence with a localized and generalized form of ES/PNEТ of various localizations undergoing treatment in the conditions of the Department of Pediatric Oncology of the Federal State Budgetary Research Center for Oncology from 2009 to 2019. As the material, the tissue of the primary tumor of ES/PNEТ from paraffin blocks was used, obtained from 67 patients during the primary biopsy, as well as after the surgical stage as part of a combined or complex treatment. The expression of ZEB1 was determined immunohistochemically.Results. The highest average level of expression of ZEB1 protein was observed in group 4 with a generalized form of ES (surgical material) and amounted to 60.8 ± 2.2 %, the minimum level was detected in group 2 with a localized form of ES (surgical material) and amounted to 29.2 ± 3.0 %. Between groups 2 (localized form) and 4 (generalized form) statistically significant differences were noted (p = 0.026).Conclusion. As a result of an immunohistochemical study, the ZEB1 protein showed its prognostic significance when comparing groups with a localized and generalized form of ES (p = 0.026). The predominance of the expression level of ZEB1 protein in the group with the generalized form statistically significantly increased the chances of metastasis by 3.6 times (95 % CI 1.13-11.8).

Brucellosis is a zoonotic infectious disease transmitted from sick animals to humans, characterized by multiple lesions of the body’s organs and systems. Officially registered incidence of brucellosis in Russia is low-0.3-0.4 per 100 thousand population. However, these figures may be much higher, since only newly detected cases are subject to registration, and there is no record of chronic forms and residual phenomena. The results of a correspondence retrospective examination of medical documents and radiographs of 11 patients with a previously established diagnosis of residual brucellosis are presented. Patients worked in the livestock industry in different professions in one of the republics of the Russian Federation. Pathognomonic changes of the bone and joint system in the form of sacroiliitis were detected in 55% of patients, spondylitis-in 64%, and lesions of the clavicular-acromial joints-in 63%. Lesions of large joints — hip and knee-were characterized by pronounced deforming arthrosis with relative preservation of small joints. Osteoporosis was detected in 82% of cases. The detected radiological changes in the musculoskeletal system do not allow us to fully justify the presence or absence of a diagnosis. The main diagnostic criteria are the features of the epidemiological history and the results of laboratory diagnostics.

Mutations in the myosin 5β, syntaxin-binding protein 2, and syntaxin 3 genes lead to microvillus inclusion disease (MVID), an autosomal recessive congenital enteropathy. This rare disease is characterized by lack of microvilli on the surface of enterocytes in the small intestine, the presence of pathognomonic intracellular microvillus inclusions, and vesicular bodies within these enterocytes. This pathology leads to the characteristic intractable, life-threatening, watery diarrhea. In the more common early-onset form, affected patients present in the first few days after birth, whereas in the late-onset form, clinical manifestations appear at approximately 2 to 3 months of age. Genetic testing can confirm the diagnosis, but the infant’s medical history, clinical presentation, and small intestinal biopsy results are strongly suggestive of the diagnosis. The prevalence of MVID is thought to be higher in countries with a high degree of consanguinity. Patients with MVID cannot tolerate feedings and require continuous total parenteral nutrition. Mortality is extremely high in the early-onset type with reports of survival in patients treated with small intestinal transplantation. Medical counseling for parents of infants with MVID needs to reflect our current understanding of the various genetic forms of this disease, the feasible management, and anticipated outcomes.

The article provides a detailed analysis of modern publications focused on a studies an astrovirus gastroenteritis. Based on our own examination of 3470 children with acute intestinal infections aged from 1 month to 1 8 years old, who were treated at the Children's Research and Clinical Center for Infectious Diseases, FMBA of Russia, St. Petersburg, from May 201 7 to July 2018 a detailed description of the characteristic epidemiological, clinical and laboratory features of the disease is given. It was shown, that astroviruses remain a significant causative agent of acute intestinal infections in children, accounting for 1.36% of all cases of disease. Among the combined forms of astrovirus infection, associations with rotaviruses, noroviruses and campylobacter spp. are most common. It was established, that the disease is more often observed in boys aged 1 to 3 years. Clinical course of astrovirus infection in children is characterized by an acute or gradual onset with repeated vomiting, moderate intoxication and symptoms of gastroenteritis. Due to the lack of pathognomonic clinical and laboratory features of the course of viral gastroenteritis, diagnosis is necessary using laboratory methods including molecular genetic research methods.

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.