Vitamin B12 deficiency presenting as neck pain and cervical radiculopathy.

Vitamin B12 is required for the formation of haematopoietic cells and the synthesis of myelin. Deficiency typically presents with fatigue and megaloblastic anaemia. Prolonged deficiency can cause neurological symptoms such as paresthesia, which can progress to subacute combined degeneration of the spinal cord. We describe an unusual presentation of B12 deficiency in a young man who was initially diagnosed and treated for cervical radiculopathy. This case highlights the challenges of diagnosing B12 deficiency in patients with neurologic but without haematologic, abnormalities. While the current incidence of B12 deficiency in developed countries is low, cases are likely to rise with the increased adoption of veganism. Clinicians should be aware of the variable presentations of B12 deficiency because delayed diagnosis and treatment increases morbidity and can cause irreversible neurological deficits.

Imaging diagnosis and differential diagnosis of extraskeletal osteosarcoma.

OBJECTIVE: The aim of this study was to investigate the clinical, imaging and pathological features of extraskeletal osteosarcoma (EOS) and to improve the understanding of this disease and other similar lesions. METHODS: The data for 11 patients with pathologically confirmed extraosseous osteosarcoma, including tumour site and size and imaging and clinical manifestations, were analysed retrospectively. RESULTS: Six patients were male (60%), and 5 were female (40%); patient age ranged from 23 to 76 years (average age 47.1 years). Among the 11 patients, 7 had clear calcifications or ossification with different morphologies, and 2 patients showed a massive mature bone tumour. MRI showed a mixed-signal mass with slightly longer T1 and T2 signals in the tumour parenchyma. Enhanced CT and MRI scans showed enhancement in the parenchyma. Ten patients had different degrees of necrosis and cystic degeneration in the mass, 2 of whom were complicated with haemorrhage, and MRI showed "fluid‒fluid level" signs. Of the 11 patients, five patients survived after surgery, and no obvious recurrence or metastasis was found on imaging examination. One patient died of lung metastasis after surgery, and 2 patients with open biopsy died of disease progression. One patient died of respiratory failure 2 months after operation. 2 patients had positive surgical margins, and 1 had lung metastasis 6 months after operation and died 19 months after operation. Another patient had recurrence 2 months after surgery. CONCLUSION: The diagnosis of EOS requires a combination of clinical, imaging and histological examinations. Cystic degeneration and necrosis; mineralization is common, especially thick and lumpy mineralization. Extended resection is still the first choice for localized lesions. For patients with positive surgical margins or metastases, adjuvant chemoradiotherapy is needed.

[Clinical pathway in Chinese county for lung cancer diagnosis and treatment (2023 edition)].

Lung cancer (LC) is the leading cause of death among patients with cancer both in worldwide and China. China accounts for 11.4% of the total number of cancer cases and 18.0% of the total number of cancer deaths in the world. Standardizing the diagnosis and treatment of LC is a key measure to improve the survival rate of LC patients and reduce the mortality rate. However, county hospitals generally face the problem of inaccessibility to advanced diagnostic and treatment technologies. Therefore, when developing quality control standards and clinical diagnosis and treatment specifications, it is necessary to combine the actual situation of county hospitals and formulate specific recommendations. The recommendations of treatment measures also need to consider the approval status of indications and whether it is included in the National Reimbursement Drug List (NRDL), to ensure the access to medicines. In order to solve the above problems, based on existing guidelines at home and abroad and the clinical work characteristics of county hospitals, the first clinical pathway in Chinese county for LC diagnosis and treatment (2023 edition) was compiled. This pathway elaborated on the imaging diagnosis, pathological diagnosis, molecular testing, and precision medicine based on histological-pathological types, tumor-node-metastasis (TNM) classification, and molecular classification, developed different diagnosis and treatment processes for different types of LC patients. Simultaneously, according to the actual work situation of county hospitals, the diagnosis and treatment recommendations in clinical scenarios are divided into basic strategies and optional strategies for elaboration. The basic strategies are the standards that county hospitals must meet, while the optional strategies provide more choices for hospitals, which are convenient for county doctors to put into clinical practice. All the recommended diagnostic and treatment plans strictly refer to existing guidelines and consensus, ensuring the scientificity.

Diagnosis knowledge constrained network based on first-order logic for syndrome differentiation.

Traditional Chinese medicine (TCM) has been recognized worldwide as a valuable asset of human medicine. The procedure of TCM is to treatment based on syndrome differentiation. However, the effect of TCM syndrome differentiation relies heavily on the experience of doctors. The gratifying progress of machine learning research in recent years has brought new ideas for TCM syndrome differentiation. In this paper, we propose a deep network model for TCM syndrome differentiation, which improves network performance by injecting TCM syndrome differentiation knowledge in the form of first-order logic into the deep network. Experimental results show that the accuracy of our proposed model reaches 89%, which is significantly better than the deep learning model MLP and other traditional machine learning models. In addition, we present the collected and formatted TCM syndrome differentiation (TSD) dataset, which contains more than 40,000 TCM clinical records. Moreover, 45 symptoms (""), 322 patterns(""), and more than 500 symptoms are labeled in TSD respectively. To the best of our knowledge, this is the first TCM syndrome differentiation dataset labeling diseases, syndromes and pattern. Such detailed labeling is helpful to explore the relationship between various elements of syndrome differentiation.

Diagnosing, assessing and managing cellulitis.

Cellulitis is an acute bacterial infection that affects the deep dermis and surrounding subcutaneous tissue. Although it is a common condition, it is often misdiagnosed because it can mimic a range of conditions that also cause inflamed, red, irritated and painful skin. Such misdiagnoses may lead to unnecessary hospital admissions and antibiotic overuse, with most alternative diagnoses being non-infectious. Undertaking a holistic patient assessment, skin assessment and thorough clinical history is important in the diagnosis of cellulitis, and it is vital to use a collaborative multidisciplinary approach in its acute management and to prevent recurrence. This article defines the term cellulitis and explores its presenting features. The author also discusses the associated risk factors, clinical assessment techniques and effective management strategies, as well as outlining the actions that nurses can take to prevent recurrence.

Differential Diagnosis of Intracranial Malignant Tumors Using MRI Based on Morphological Features and Signal Intensity Ratio of Lesions.

Objective: To investigate the clinical value of conventional MRI morphological features and signal intensity ratio in the differential diagnosis of intracranial malignant tumors (high-grade glioma (HGG), primary central nervous system Lymphoma (PCNSL) and single brain metastasis (BM). Methods: Retrospective analysis of 92 cases of HGG, 27 cases of PCNSL, and 35 cases of BM. MRI data in The General Hospital of Western Theater Command from August 2014 to December 2021, comparative analysis of morphological characteristics of tumors and lesion/normal brain parenchyma signal ratio (lesiontonormal parenchymaratio, LNR), five indexes were included T1WI signal ratio (LNRT1), T2WI signal intensity ratio (LNRT2), T2WI/T1WI signal ratio (LNRT2/T1), T1WI enhanced signal ratio (LNRT1CE) and contrast enhancement ratio (CER). The differential diagnostic performance was also assessed by subject operating characteristic (ROC) curves. Results: HGG, PCNSL, and BM were all seen more frequently in the supratentorial region, More than 50% of HGG mainly showed irregular morphology, intratumoral necrosis, cystic degeneration, peritumoral severe edema, cyclic uneven enhancement after enhancement, PCNSL significantly enhanced the main uniformity, necrosis cyst became rare, BM group showed uneven enhancement, no obvious specificity, and the differences in tumor morphology, peritumor edema, intratumor hemorrhage, necrotic cystic lesions, and enhancement patterns were statistically significant among the three (P < .05). PCNSL LNRT1 and its LNRT1CE (LNRT1: 0.558 ± 0.050, LNRT1CE: 1.637 ± 0.125) were significantly higher than those of HGG (LNRT1: 0.480 ± 0.077, LNRT1CE: 1.425 ± 0.160) and BM (LNRT1: 0.514 ± 0.120, LNRT1CE: 1.375 ± 0.122), while LNRT2 and LNRT2/T1 (LNRT2: 1.389 ± 0.086, LNRT2/T1: 2.511 ± 0.295) were significantly lower than those of HGG (LNRT2: 1.527 ± 0.191, LNRT2/T1: 3.263 ± 0.657), and BM (LNRT2: 1.504 ± 0.089, LNRT2/T1: 3.103 ± 0.830). There was no significant difference in CER among the three groups (P > .05). ROC curve analysis of LNRT1, LNRT2, LNRT1CE, and LNRT2/T1 could be used to discriminate PCNSL from HGG and BM, with LNRT1CE having the largest area under the curve of 0.873, sensitivity of 0.963 and specificity of 0.669. Conclusion: MRI lesion morphological features and signal intensity ratio are important for discriminating HGG from PCNSL and BM. As a quantitative parameter, tumor signal intensity ratio can provide an important supplement for subjective judgment, to improve the accuracy of tumor qualitative diagnosis and differential diagnosis.

Brazilian Psychiatric Association guidelines on the integration of spirituality into mental health clinical practice: Part 1. Spiritual history and differential diagnosis.

OBJECTIVES: To present evidence-based guidelines for clinical practice regarding religiosity and spirituality in mental health care in Brazil. METHODS: A systematic review was conducted to identify potentially eligible articles indexed in the PubMed, PsycINFO, SciELO, LILACS, and Cochrane databases. A summary of recommendations and their levels of evidence was produced in accordance with Oxford Centre for Evidence-Based Medicine guidelines. RESULTS: The systematic review identified 6,609 articles, 41 of which satisfied all inclusion criteria. Taking a spiritual history was found to be an essential part of a compassionate and culturally sensitive approach to care. It represents a way of obtaining relevant information about the patient's religiosity/spirituality, potential conflicts that could impact treatment adherence, and improve patient satisfaction. Consistent evidence shows that reported perceptual experiences are unreliable for differentiating between anomalous experiences and psychopathology. Negative symptoms, cognitive and behavioral disorganization, and functional impairment are more helpful for distinguishing pathological and non-pathological anomalous experiences. CONCLUSION: Considering the importance of religiosity/spirituality for many patients, a spiritual history should be routinely included in mental health care. Anomalous experiences are highly prevalent, requiring a sensitive and evidence-based approach to differential diagnosis.

A food product as a potential serious cause of liver injury.

INTRODUCTION: Drug-induced liver injury can be challenging to diagnose, as it can develop following the use of many prescription and nonprescription medications, herbals, and dietary supplements. Food products may not be routinely considered as a potential cause of hepatotoxicity. We describe the clinical features of two cases of acute liver injury following consumption of a smoothie product. CASE PRESENTATIONS: Two patients independently presented to the hospital with epigastric pain and acute liver injury. Both patients had consumed a new smoothie product in the same month that they presented to the hospital, with a recurrence of acute liver injury with further consumption. A diagnosis of drug-induced liver injury was established after the evaluation excluded other causes of liver injury. It was thought that a natural ingredient in the smoothie, tara flour, was the cause of hepatotoxicity based on prior news reports. Both patients stopped drinking the smoothie product with subsequent normalization of liver enzyme activities and no further recurrence of epigastric pain. CONCLUSION: The diagnosis of drug-induced liver injury largely relies on a compatible history and exclusion of other causes of liver injury. We demonstrate the importance of considering new food products in the differential diagnosis of acute liver injury.

Imaging findings of intraventricular pilocytic astrocytoma.

OBJECTIVE: The aim of this study is to present the clinical and imaging findings of 16 patients with intraventricular pilocytic astrocytomas (PAs). METHODS: 16 patients with histopathological diagnosis of intraventricular PA between February 2016 and January 2022 were evaluated retrospectively. Imaging and clinical findings of the patients, as well as apparent diffusion coefficient (ADC) measurements were analyzed. RESULTS: Of 16 patients, 8 (%50) were male and 8 (%50) were female. The mean age of the patients was 20.8 years (2-44 years range). The most common symptoms in the patients were headache and ataxia. The mean long-axis size of lesions was found to be 48.19 ± 21.59 (range, 15-92 mm). 9 out of 16 lesions (56.2%) were located in the fourth ventricle. The majority of the lesions were iso-hypointense in T1W and hyperintense in T2W images. The mean ADC value of PAs was 1.57 × 10-3 ± 0.2 mm2/s, while the mean thalamic ADC and white matter ADC values were found to be 0.78 × 10-3 ± 0.04 and 0.76 × 10-3 ± 0.06 mm2/s, respectively. There was a statistically significant difference between the ADC values obtained from the solid components of the lesions and the thalami/white matter (p < 0.001). CONCLUSION: PAs often originate from midline structures, however, they can also be located intraventricularly. Although intraventricular PAs are frequently seen in pediatric population, it should be kept in mind that they can also be seen in adults, albeit rarely. ADVANCES IN KNOWLEDGE: PA should be considered in the differential diagnosis of intraventricular neoplasms in case of high ADC values.

[Fibrocartilaginous lipoma: a clinicopathological analysis of six cases].

Objective: To investigate the clinicopathological characteristics, immunophenotype, molecular genetics and differential diagnoses of fibrocartilaginous lipomas which consist of adipose tissue, fibrocartilage and fibrous elements. Methods: The clinicopathological features, immunohistochemical profiles and molecular profiles in six cases of fibrocartilaginous lipomas diagnosed at Foshan Traditional Chinese Medicine Hospital, Fudan University Shanghai Cancer Center, the Fifth Affiliated Hospital of Zhengzhou University and the Fourth Affiliated Hospital of Harbin Medical University from January 2017 to February 2022 were included. The follow-up information, diagnosis and differential diagnoses were evaluated. Results: There were three males and three females with a median age of 53 years (range 36-69 years) at presentation. Tumors were located in the extremities, the head and neck region and trunk; and presented as painless masses that were located in the subcutaneous tissue or deep soft tissue. Grossly, three cases were well defined with thin capsule, one case was well circumscribed without capsule, two cases were surrounded by some skeletal muscle. The tumors were composed of fatty tissue with intermingled gray-white area. The tumors ranged from 1.50-5.50 cm (mean 2.92 cm). Microscopically, the hallmark of these lesions was the complex admixture of mature adipocytes, fibrocartilage and fibrous element in varying proportions; the fibrocartilage arranged in a nodular, sheet pattern with some adipocytes inside. Tumor cells had a bland appearance without mitotic activity. Immunohistochemical analysis using antibodies to SMA, desmin, S-100, SOX9, HMGA2, RB1, CD34, adipopholin was performed in six cases; the fibrocartilage was positive for S-100 and SOX9, adipocytes were positive for S-100, adipopholin and HMGA2; CD34 was expressed in the fibroblastic cells, while desmin and SMA were negative. Loss of nuclear RB1 expression was not observed. Other genetic abnormalities had not been found yet in four cases. Follow-up information was available in six cases; there was no recurrence in five, and one patient only underwent biopsy of the mass. Conclusions: Fibrocartilaginous lipoma is a benign lipomatous tumor with mature adipocytes, fibrocartilage and fibrous elements. By immunohistochemistry, they show the expression of fat and cartilage markers. No specific molecular genetics changes have been identified so far. Familiarity with its clinicopathological features helps the distinction from its morphologic mimics.

The role and advantage of traditional Chinese medicine in the prevention and treatment of COVID-19.

The global coronavirus disease 2019 (COVID-19) pandemic has had a massive impact on global social and economic development and human health. By combining traditional Chinese medicine (TCM) with modern medicine, the Chinese government has protected public health by supporting all phases of COVID-19 prevention and treatment, including community prevention, clinical treatment, control of disease progression, and promotion of recovery. Modern medicine focuses on viruses, while TCM focuses on differential diagnosis of patterns associated with viral infection of the body and recommends the use of TCM decoctions for differential treatment. This differential diagnosis and treatment approach, with its profoundly empirical nature and holistic view, endows TCM with an accessibility advantage and high application value for dealing with COVID-19. Here, we summarize the advantage of and evidence for TCM use in COVID-19 prevention and treatment to draw attention to the scientific value and accessibility advantage of TCM and to promote the use of TCM in response to public health emergencies. Please cite this article as: Huang M, Liu YY, Xiong K, Yang FW, Jin XY, Wang ZQ, Zhang JH, Zhang BL. The role and advantage of traditional Chinese medicine in the prevention and treatment of COVID-19. J Integr Med. 2023; 21(5): 407-412.

Acrodermatitis enteropathica during parenteral nutrition: a pediatric case report.

Background and aim Acrodermatitis enteropathica is a rare disorder characterized by the triad composed by dermatitis, alopecia and diarrhoea. Its acquired form can be caused by inadequate zinc intake, malabsorptive processes, excessive renal or intestinal loss. A rare cause of acquired zinc deficiency is iatrogenic nutritional deficiency due to parenteral nutrition. The diagnosis can be really difficult because the early clinical signs are non-specific and patient's eventual comorbidities can often mask symptoms. Methods: A 5-years-old child affected by several comorbidities, consequent to C. Koseri meningo-encephalitis occurred in the neonatal period, was admitted to Pediatric ward for acute pancreatitis and  had been fed via total parenteral nutrition for one month. Symptoms started approximately 15 days after the start of a  standardized parenteral nutrition mixture. The child presented with diarrhoea, alopecia and erythematous bullous skin lesions, distributed predominantly in acral and periorificial sites and not responsive to topical treatments. Zinc serum dosage were very low (10 µg/dL, with normal values 68-107 µg/dL). Clinical improvement was very fast after oral zinc supplementation (5mg/daily), with a rapid regularisation in the intestinal habits and re-epithelialization of the skin lesions. Results and Conclusions: Trace elements are an essential component of parenteral nutrition. The supplementation of trace elements is an important part of the parenteral nutrition prescription. Even few days of zinc shortage, especially in frail patients, may cause a severe dermatitis that can be easily prevented. Despite its rarity, acrodermatitis enteropathica should be strongly considered in the differential diagnosis of skin lesions for these patients.

Use of Thalamus L-Sign to Differentiate Periventricular Leukomalacia From Neurometabolic Disorders.

PURPOSE: To assess the diagnostic value of the thalamus L-sign on magnetic resonance imaging (MRI) in distinguishing between periventricular leukomalacia and neurometabolic disorders in pediatric patients. METHODS: In this retrospective study, clinical and imaging information was collected from 50 children with periventricular leukomalacia and 52 children with neurometabolic disorders. MRI was used to evaluate the L-sign of the thalamus (ie, injury to the posterolateral thalamus) and the lobar distribution of signal intensity changes. Age, sex, gestational age, and level of Gross Motor Function Classification System (only for periventricular leukomalacia) constituted the clinical parameters. Statistical evaluation of group differences for imaging and clinical variables were conducted using univariable statistical methods. The intra- and inter-observer agreement was evaluated using Cohen's kappa. Univariable or multivariable logistic regression was employed for selection of variables, determining independent predictors, and modeling. RESULTS: The thalamus L-sign was observed in 70% (35/50) of patients in the periventricular leukomalacia group, but in none of the patients with neurometabolic disorder (P < .001). The gestational age between groups varied significantly (P < .001). Involvement of frontal, parietal, and occipital lobes differed significantly between groups (P < .001). In the logistic regression, the best model included negative thalamus L-sign and gestational age, yielding an area under the curve, accuracy, sensitivity, specificity, and precision values of 0.995, 96.1%, 96%, 96.2%, and 96%, respectively. Both the lack of thalamus L-sign and gestational age were independent predictors (P < .001). CONCLUSIONS: The thalamus L-sign and gestational age may be useful in distinguishing between periventricular leukomalacia and neurometabolic disorders.

The role of oxidative stress parameters in the differential diagnosis of malignant and benign ascites.

OBJECTIVE: Ascites is the pathological fluid accumulation in the peritoneal cavity and there are mainly two reasons for its etiology. These are malignant diseases such as hepatoma or pancreas cancer and benign diseases such as liver cirrhosis and heart failure. In this study, we investigated the diagnostic utility of arylesterase (ARES), paraoxonase (PON), stimulated paraoxonase (SPON), catalase (CAT) and myeloperoxidase (MPO) in the differential diagnosis of malignant and benign ascites. PATIENTS AND METHODS: This study was conducted between February and September 2016. Patients with acute infection, those taking vitamin supplements and antioxidant medication, smoking, and drinking alcohol were excluded from the study. RESULTS: The study population consisted of 60 patients: 36 had benign (60%) and 24 had malignant (40%) ascites. The mean age of the patients was 63.3 years. MPO levels (14.2 vs. 4.2; p=0.028) were found to be higher and PON (2.6 vs. 4.5; p<0.001), SPON (10.7 vs. 23.9; p<0.001), ARES (615.7 vs. 823.5, p<0.001) and CAT (13.3 vs. 36.8; p=0.044) were found to be lower in malignant patients compared to benign patients. There was a positive correlation between PON, SPON, and ARES levels, and a negative correlation between MPO levels and SPON, ARES, and CAT levels. MPO levels showed superior diagnostic performance compared to ARES and CAT levels (p<0.05) for predicting malignancy but showed no diagnostic superiority compared to PON and SPON levels (p>0.05). CONCLUSIONS: PON, SPON, ARES, CAT, and MPO can be used with high sensitivity and specificity in the differential diagnosis of malignant and benign ascites.

Chronic Primary Pelvic Pain Syndrome in Men.

BACKGROUND: Chronic primary pelvic pain syndrome in men (CPPPSm) can be associated with urogenital pain, urinary symptoms, sexual dysfunction, and emotional disturbance. Its clinical heterogeneity and incompletely understood pathogenesis make it more difficult to treat. This article is intended to familiarize the reader with basic aspects of the manifestations, pathophysiology, diagnostic evaluation, differential diagnosis, and treatment of this condition. METHODS: This article is based on relevant publications retrieved by a selective search of the literature, including the current guidelines of the European Association of Urology. The features of this disease pertaining to urology, psychosomatic medicine, and pain medicine are illuminated from an interdisciplinary perspective. RESULTS: Chronic pelvic pain appears to arise through a complex interaction of inflammatory, infectious, neurological, musculoskeletal, and psychosomatic factors. A comprehensive diagnostic work-up should be carried out to evaluate and exclude the numerous differential diagnoses. Treatment strategies are based on the clinical phenotype. Randomized controlled trials have shown that significant relief can be achieved with a variety of drugs and non-pharmacological treatments, selected according to the manifestations of the condition in the individual case. Attention must be paid to treatment-specific adverse effects. CONCLUSION: The management of patients with CPPPSm should consist of a comprehensive differential diagnostic evaluation and an individually oriented treatment strategy.

[Guidelines on atopic dermatitis for Mexico (GUIDAMEX): using the ADAPTE methodology]. / Guía de dermatitis atópica para México (GUIDAMEX): lineamientos usando metodología ADAPTE.

With the advancement of knowledge in relation to the physiopathogenesis of atopic dermatitis (AD), several new therapeutic forms have been developed. There are also new guidelines for self-care. On the other hand, there is still an underdiagnosis of AD in Mexico. Thus, the need was seen to develop a national guide, with a broad base among the different medical groups that care for patients with AD. The Atopic Dermatitis Guidelines for Mexico (GUIDAMEX) was developed with the ADAPTE methodology, with the endorsement and participation of ten national medical societies, from physicians in Primary Healthcare to allergists and dermatologists. Throughout the manuscript, key clinical questions are answered that lead to recommendations and suggestions for the diagnosis of AD (including differential diagnosis with immunodeficiency syndromes), the recognition of comorbidities and complications, non-pharmacological treatment including therapeutic education, treatment of flares and maintenance therapy. The latter encompasses general measures to avoid triggering factors, first-line treatment focussed on repair of the skin barrier, second-line treatment (topical proactive therapy), and third-line phototherapy or systemic treatment, including dupilumab and JAK inhibitors.

Con el avance de los conocimientos en relación con la fisiopatogenia de la dermatitis atópica (DA) se han desarrollado varias formas terapéuticas nuevas. Asimismo, existen nuevos lineamientos para el autocuidado. Por otro lado, aún existe un subdiagnóstico de la DA en México. Así, se vio la necesidad de desarrollar una guía nacional, con base amplia entre las diferentes agrupaciones médicos que atienden pacientes con DA. Se desarrolló la Guía de DA para México (GUIDAMEX) con la metodología ADAPTE, con el aval y la participación de diez sociedades médicas nacionales, desde médicos del primer contacto hasta alergólogos y dermatólogos. A lo largo del escrito se contestan preguntas clínicas clave que llevan a recomendaciones y sugerencias para el diagnóstico de la DA (incluyendo diagnóstico diferencial con síndromes de inmunodeficiencia), el reconocer de las comorbilidades y complicaciones, las medidas generales (tratamiento no farmacológico) incluyendo la educación terapéutica, el tratamiento de los brotes y el tratamiento de mantenimiento. Este último abarca las medidas generales de evitar agravantes, el tratamiento de primera línea reparador de la barrera cutánea, de segunda línea (manejo proactivo tópico), hasta la fototerapia y el tratamiento sistémico de la tercera línea, incluyendo dupilumab y los inhibidores de la cinasa de Jano.

Differential diagnosis of uterine adenosarcoma: identification of JAZF1-BCORL1 rearrangement by comprehensive cancer genomic profiling.

BACKGROUND: Uterine adenosarcoma is a rare malignant tumor that accounts for 8% of all uterine sarcomas, and less than 0.2% of all uterine malignancies. However, it is frequently misdiagnosed in clinical examinations, including pathological diagnosis, and imaging studies owing to its rare and non-specific nature, which is further compounded by the lack of specific diagnostic markers. CASE PRESENTATION: We report a case of uterine adenosarcoma for which a comprehensive genomic profiling (CGP) test provided a chance to reach the proper diagnosis. The patient, a woman in her 60s with a history of uterine leiomyoma was diagnosed with an intra-abdominal mass post presentation with abdominal distention and loss of appetite. She was suspected to have gastrointestinal stromal tumor (GIST); the laparotomically excised mass was found to comprise uniform spindle-shaped cells that grew in bundles with a herringbone architecture, and occasional myxomatous stroma. Immunostaining revealed no specific findings, and the tumor was diagnosed as a spindle cell tumor/suspicious adult fibrosarcoma. The tumor relapsed during postoperative follow-up, and showed size reduction with chemotherapy, prior to regrowth. CGP was performed to identify a possible treatment, which resulted in detection of a JAZF1-BCORL1 rearrangement. Since the rearrangement has been reported in uterine sarcomas, we reevaluated specimens of the preceding uterine leiomyoma, which revealed the presence of adenosarcoma components in the corpus uteri. Furthermore, both the uterine adenosarcoma and intra-abdominal mass were partially positive for CD10 and BCOR staining. CONCLUSION: These results led to the conclusive identification of the abdominal tumor as a metastasis of the uterine adenosarcoma. The JAZF1-BCORL1 rearrangement is predominantly associated with uterine stromal sarcomas; thus far, ours is the second report of the same in an adenosarcoma. Adenosarcomas are rare and difficult to diagnose, especially in atypical cases with scarce glandular epithelial components. Identification of rearrangements involving BCOR or BCORL1, will encourage BCOR staining analysis, thereby potentially resulting in better diagnostic outcomes. Given that platinum-based chemotherapy was proposed as the treatment choice for this patient post diagnosis with adenosarcoma, CGP also indirectly contributed to the designing of the best-suited treatment protocol.

A 45-Year-Old Woman With Unexplained Iron Deficiency Anemia and No Respiratory Symptoms.

CASE PRESENTATION: A 45-year-old Japanese woman was diagnosed with anemia in a work place medical check-up and came to our hospital for further investigations. She had experienced general fatigue and orthostatic dizziness for 6 months without fever or respiratory symptoms, including cough, sputum, hemoptysis, or dyspnea. She had undergone annual medical check-ups previously, which had shown no abnormalities, including anemia. She had no history of weight loss, epimenorrhagia, hematuria, or melena. She had no significant positive medical history and was not on any regular medication or supplements. She had no history of alcohol abuse or smoking.

Transarterial ethiodised oil marking before CT-guided renal cryoablation: evaluation of tumour visibility in various renal cell carcinoma subtypes.

AIM: To evaluate ethiodised oil retention of transarterial embolisation using ethiodised oil (ethiodised oil marking) before computed tomography (CT)-guided percutaneous cryoablation (PCA) according to renal cell carcinoma (RCC) subtype. MATERIALS AND METHODS: Ethiodised oil marking was performed 1-3 days before PCA in 99 patients with 99 RCCs from 2016 to 2020. Ethiodised oil retention on CT images was evaluated retrospectively and CT attenuation values in the tumour were measured. Regions of interest (ROI) were placed on the tumours to calculate: average (ROI-average), maximal (ROI-max), minimum (ROI-min), and standard deviation (ROI-SD). Qualitative scores comprising a five-point scale (5, excellent; 1, poor) were evaluated for the retention scores (RS) of ethiodised oil in the tumour (ethiodised oil-RS) and the visualisation scores (VS) of the boundary between the tumour and renal parenchyma (boundary-VS). RESULTS: The histological subtypes comprised clear cell (ccRCC; n=85), papillary (pRCC; n=6), and chromophobe/oncocytoma renal cell carcinoma (chrRCC; n=8). The mean ROI-average, ROI-max, and ROI-SD were significantly higher in ccRCCs than in chrRCCs and pRCCs (p<0.05). The mean ethiodised oil-RS was significantly lower in pRCCs than in ccRCCs (p=0.039), and the mean boundary-VS was >4 in all subtypes. Even with poor intratumour ethiodised oil retention (n=6), sufficient boundary-VS was obtained due to "inverted marking." All PCA procedures were completed without additional intravenous contrast material injection at the time of PCA. CONCLUSION: Regardless of the tumour subtypes, ethiodised oil marking aids in visualising the boundary between the tumour and parenchyma on non-contrast CT in PCA.

Pellagra as a differential diagnosis in the confused patient on the acute medical unit.

A man in his 80s was admitted via the acute medical take after presenting with increased confusion and features of alcohol withdrawal. He had a several-month history of a worsening pruritic rash surrounding his neck, arms and legs in addition to new, profuse diarrhoea. In view of the background of known chronic alcoholism and the coexisting symptoms of rash, confusion and diarrhoea, pellagra was diagnosed via a multidisciplinary approach. Oral nicotinamide supplementation was commenced and his symptoms responded rapidly. The bias and challenge of reaching a unified diagnosis in the context of a multisystem condition are exemplified in this case report.