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Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of ACTH-independent Cushing syndrome (CS), presenting diagnostic challenges due to its rarity and its difficult clinical differentiation from other causes of CS. Here, we report the case of a 22-year-old female who developed classical symptoms of hypercortisolism including progressive weight gain, moon facies, and various skin manifestations. Despite biochemical screening confirming ACTH-independent CS, imaging modalities including computed tomography and magnetic resonance imaging showed normal adrenal gland morphology, complicating the localization of cortisol hypersecretion. Subsequent nuclear imaging methods were not indicative of ectopic cortisol production until adrenal vein sampling (AVS) conclusively identified the adrenal glands as the only possible source of cortisol hypersecretion. Eventually, bilateral adrenalectomy led to a significant improvement in symptoms. Pathological examination confirmed the diagnosis of PPNAD, and genetic testing revealed a mutation in the PRKAR1A gene associated with the Carney complex. This case highlights the importance of considering rare etiologies in hypercortisolism diagnosis and describes their challenging diagnostic workup and the utility of AVS in localizing cortisol hypersecretion in PPNAD patients. [ABSTRACT FROM AUTHOR]

Aim: Bethesda System for reporting thyroid cytopathology established in 2009 was updated for the first time in 2017. Since its introduction very few studies have been done on the utility of recently introduced "The 2017 Bethesda System for Reporting Thyroid Cytopathology" (TBSRTC II) and estimation of risk of malignancy in various categories. Material and methods: This was a prospective study done on thyroid lesions in which lesions were evaluated cytologically and classified according to TBSRTC II. Histopathological correlation was done, wherever possible. ROM was calculated for each Bethesda category in both ways as per TBSRTC II i.e. with NIFTP and excluding NIFTP from the malignant category. Results: Using 2017 TBSRTC, 190 cases of thyroid FNACs were classified into 6 diagnostic categories. Cytohistological correlation was available in 60 cases. ROM was calculated which changed only in category III and V as only these two categories showed one case each of NIFTP. However there was an overestimation of ROM in category II and III as there are selection biases and not all thyroid nodules underwent surgical resections. Conclusion: To conclude, the risk of malignancy calculated in two ways in the recent 2017 Bethesda system may have higher clinical relevance as those lesions with high ROM are defined for surgical excision. Thus we recommend that "The 2017 Bethesda system for Reporting Thyroid Cytopathology" should be implemented uniformly in our country as it provides a homogenous and standardised terminology resulting in better management of patients with thyroid nodular disease. [ABSTRACT FROM AUTHOR]

Primary pigmented nodular adrenocortical disease (PPNAD) and bilateral macronodular adrenocortical disease (BMAD) are 2 forms of adrenocortical nodular diseases causing Cushing's syndrome but are 2 very distinct conditions. PPNAD, affecting mostly young patients with an almost constant severe Cushing's syndrome, is characterized by pigmented micronodules, usually less than 1 cm, not always visible on imaging. On the contrary, BMAD is predominantly diagnosed in the fifth and sixth decades, with highly variable degrees of cortisol excess, from mild autonomous cortisol secretion to overt Cushing's syndrome. BMAD presents as large bilateral adrenal macronodules, easily observed on imaging. Both diseases are often genetically determined: frequently PPNAD is observed in a multiple neoplasia syndrome, Carney complex, and a germline genetic defect is identified in around 80% of index cases, always affecting key actors of the cAMP/protein kinase A (PKA) pathway: mostly PRKAR1A , encoding the PKA 1-alpha regulatory subunit. On the other hand, BMAD appears mostly isolated, and 2 predisposing genes are known at present: ARMC5 , accounting for around 20% of index cases, and the recently identified KDM1A , causing the rare presentation with food-dependent Cushing's syndrome, mediated by the ectopic expression of the glucose-dependent insulinotropic polypeptide receptor (GIPR) in adrenal nodules. GIPR was the first demonstrated receptor to illegitimately regulate cortisol secretion in nodular adrenocortical diseases, and a myriad of other receptors and paracrine signals were discovered afterward. The last 30 years were pivotal in the understanding of the genetics and pathophysiology of bilateral adrenocortical nodular diseases, leading to a personalized approach of these fascinating conditions. [ABSTRACT FROM AUTHOR]

Intra-articular tumours are uncommonly encountered in routine practice and may present diagnostic challenges to pathologists. Challenges unique to this site include distinction from more common reactive synovial conditions, which are far more common; histologic variability; superimposed reactive changes; and often, lack of provided clinicoradiological context. This article reviews the pathology of the synovial tumours and tumour-like lesions, including diagnostic pearls, pitfalls and rare entities. [ABSTRACT FROM AUTHOR]

Objective To investigate the value of magnetic resonance image-diffusion weighted imaging (MRI-DMI) combined with attenuation imaging (ATI) in the diagnosis of focal nodular lesions < 2 cm in the background of fatty liver. Methods The clinical data of 68 patients with fatty liver complicated with focal nodular lesions < 2 cm were retrospectively analyzed from June 2022 to June 2023 in Huaihe Hospital of Henan University. All patients underwent MRI, pathology and ATI examination. According to the degree of fatty liver disease, 68 patients were divided into severe group (n = 24), moderate group (n = 27) and mild group (n = 17). The apparent diffusion coefficient (ADC) and acoustic attenuation coefficient (AC) values of patients with different focal lesions were compared with clinical data, and the ADC values and AC values of patients with different fatty liver lesions were compared with clinical data, and the correlation was analyzed by Pearson. To analyze the value of MRIDWI combined with AC value in the diagnosis of malignant fatty liver disease with focal nodular disease < 2 cm. Results Pathological diagnosis showed that 41 of the 68 patients were benign and 27 were malignant. There were no significant differences in low density lipoprotein cholesterol (LDL-C), age, triglyceride (TG), sex, total cholesterol (TC) and high density lipoprotein cholesterol (HDL-C) between benign nodule group and malignant nodule group (P > 0.05). There was no difference in TG, age, HDL-C, sex, TC and LDL-C among mild, moderate and severe groups (P > 0.05). The ADC value of malignant nodule group was lower than benign nodule group under different b values (P < 0.05), and the AC value of malignant nodule group was higher than that of benign nodule group (P < 0.05). ADC value under different b values in the severe group was lower than mild and moderate groups (P < 0.05), ADC value under different b values in the moderate group was lower than mild group (P < 0.05), AC value in the severe group was higher than mild and moderate groups (P < 0.05), and AC value in the moderate group was higher than mild group (P < 0.05). ADC values at different b values were negatively correlated with the degree of fatty liver disease (P < 0.05), but not with TG, HDL-C, TC and LDL-C (P > 0.05). AC was positively correlated with the degree of fatty liver disease (P < 0.05), negatively correlated with HDL-C (P < 0.05), but not with TG, TC and LDL-C (P > 0.05). The area under the curve (AUC) values of MRI-DWI, AC and their combination in the diagnosis of fatty liver complicated with focal nodule disease < 2 cm into malignancy were 0.775, 0.773 and 0.909, respectively (P < 0.05), and the AUC value of the combination was higher (P < 0.05). Conclusion MRI-DWI and ATI have important value in the differential diagnosis of benign and malignant lesions of focal nodular lesions < 2 cm in the background of fatty liver, and the combination of MRI-DWI and ATI has higher diagnostic value. [ABSTRACT FROM AUTHOR]

Background and Objectives: Thyroid disorders are one of the most common endocrine disorders affecting 4-5% of the general population. The objective of study is to evaluate the predictive value of preoperative serum TSH levels in predicting malignancy in nodular thyroid diseases. Methods: It is a longitudinal study of 28 patients with thyroid swelling admitted to surgery department in a tertiary care referral hospital, during the period of January 2011 to December 2011. Thyroid function tests were done by standard electro chemiluminescent assay and serum TSH levels, age, sex were compared with malignancy. Logistic regression analysis was used to determine which factors were predictive of malignancy. Results: 28 cases were analysed. Mean TSH levels were higher in the malignant group and in the age group of 50-65 yrs. Prevalence of malignancy was studied in the all TSH groups and it was found that the higher quartiles of serum TSH levels were found to be associated with increased risk of malignancy. Logistic regression analysis revealed that TSH levels was the only significant risk factor for malignancy. Conclusion: the serum TSH level may be useful in predicting the probability of cancer and optimizing the extent of thyroidectomy in patients with NTD. [ABSTRACT FROM AUTHOR]

Neurosurgeons often use radiation to visualize blood vessels and implants intraoperatively. However, high exposure to radiation increases one's cancer risk. This study aims to investigate intraoperative ionizing radiation exposure awareness and associated morbidity among neurosurgeons. An anonymized 30-question survey about their intraoperative radiation exposure, protective measures, radiation knowledge, and any conditions that can arise from protracted radiation exposure was disseminated to 3344 American Association of Neurological Surgeons members. A total of 227 (6.8%) neurosurgeons completed the survey. Most neurosurgeons (61, 27%) performed 2–4 surgeries per week necessitating radiation (61, 27%), did not use a dosimeter (134, 59%), and wore a lead apron (89%) and a thyroid shield (75%). Only 7 (3%) of respondents could correctly identify the safety limit for occupational radiation. One hundred and thirty-four (59%) respondents correctly identified the relationship between distance and radiation dose reduction. Two hundred and thirteen (94%) neurosurgeons reported concern about occupational radiation exposure. No significant association was found between occupational radiation exposure and the rate of cataracts, combined cancer, and skin cancer. Multivariate logistic regression adjusting for age and cancer history found that the likelihood of developing leukemia (P = 0.02) and nonmalignant thyroid nodular disease (P = 0.01) is positively associated with increased total occupational radiation exposure. There is a need for improved radiation safety awareness among neurosurgeons, especially in the context of rising usage of minimally invasive surgery. This can allow for a greater understanding of radiation-associated risks among neurosurgeons and guide the implementation of safer practices. [ABSTRACT FROM AUTHOR]

Context Active surveillance for papillary thyroid cancer (PTC) meeting criteria for surgical resection is uncommon. Which patients may prove reasonable candidates for this approach is not well defined. Objective This work aimed to examine the feasibility and safety of active surveillance for patients with known or suspected intrathyroidal PTC up to 4 cm in diameter. Methods A retrospective review was conducted of all consecutive patients who underwent nonoperative active surveillance of suspicious or malignant thyroid nodules over a 20-year period from 2001 to 2021. We included patients with an initial ultrasound–fine-needle aspiration confirming either (a) Bethesda 5 or 6 cytology or (b) a "suspicious" Afirma molecular test. The primary outcomes and measures included the rate of adverse oncologic outcomes (mortality and recurrence), as well as the cumulative incidence of size/volume growth. Results Sixty-nine patients were followed with active surveillance for 1 year or longer (average 55 months), with 26 patients (38%) having nodules 2 cm or larger. No patients were found to develop new-incident occurrence of lymph node or distant metastasis. One patient, however, demonstrated concern for progression to a dedifferentiated cancer on repeat core biopsy 17 years after initial start of nonoperative selection. A total of 21% of patients had an increase in maximum diameter more than 3 mm, while volume increase of 50% or greater was noted in 25% of patients. Thirteen patients ultimately underwent delayed (rescue) surgery, and no disease recurrence was noted after such treatment. Age and initial nodule size were not predictors of nodule growth. Conclusion These data expand consideration of active surveillance of PTC in select patients with intrathyroidal suspected malignancy greater than 1 cm in diameter. Rescue surgery, if required at a later time point, appears effective. [ABSTRACT FROM AUTHOR]

Aims: Primary pigmented nodular adrenocortical disease (PPNAD), as a rare kind of Cushing's syndrome, is frequently misdiagnosed. To get a better understanding of the disease, we analyzed the clinical characteristics and pathogenic variants of PPNAD. Methods: Databases were searched, and the pathogenic variants and clinical manifestations of patients were summarized from the relevant articles. Results: A total of 210 patients in 86 articles were enrolled with a median age of 22 and a female-to-male ratio of 2:1. Sixty-six (31.43%) patients were combined with Carney complex (CNC) and 94.29% were combined with osteoporosis/osteopenia. Among 151 patients who underwent genetic testing, 87.42% (132/151) had pathogenic variants. Six gene mutations (PRKAR1A, PDE11A, PRKACA, CTNNB1, PDE8B, and ARMC5) were detected in the patients. The most common mutation was PKAR1A, accounting for 79.47% (120/151). There was a significant correlation between PRKAR1A pathogenic variant and spotty skin pigmentation in CNC concurrent with PPNAD (p < 0.05). Among pregnant patients with PPNAD, those without surgical treatment and with bilateral adrenalectomy suffered from a high-risk perinatal period. However, patients with unilateral adrenalectomy presented a safe perinatal period. Conclusions: For young patients with Cushing's syndrome, especially female patients with spotty skin pigmentation and osteoporosis/osteopenia, PPNAD should be considered. Unilateral adrenal resection may be considered as an option for women with fertility needs. In view of the difficulty of PPNAD diagnosis, genetic testing before surgery might be a reasonable option. Patients with PPNAD with spotty skin pigmentation should consider the PRKAR1A pathogenic variant and pay attention to CNC. [ABSTRACT FROM AUTHOR]

Background: The use of ultrasound aids in the identification of thyroid nodules, but it is still crucial to determine whether or not they are problematic using non-invasive methods. Aim of work: To evaluate validity of TIRADS in diagnosis of nature of thyroid nodules. Patients and methods: A cross sectional study was conducted on 95 nodules derived from thirty patients in radio diagnosis department in Zagazig University hospital from February 2018 to June 2019. All patients underwent complete history taking, full clinical examination, ultrasonographic evaluation of thyroid gland and Fine needle aspiration cytology (FNAC) for solitary nodule or the most suspicious nodules in patients with multinodular goiter and then smears were pathologically assessed. Results: About 73% of patients were females with mean age 46 years. Out of the ninety-five nodules, fifty were assesses using US-guided FNAB. Ten nodules were malignant. Papillary carcinoma was the most common accounting for seven nodules. Thyroid Imaging Reporting and Data System (TIRADS) 3 was the most commonly encountered category accounting (42%) while The different TIRADS categories were confronted with the results of pathology and the risk of malignancy were Compared with benign nodules, significantly higher percentages of malignant nodules wee solid, hypoechoic, with irregular margins, taller-than-wide morphology, with microcalcifications, markedly hypoechoic or associated abnormal cervical lymphadenopathy. Tab and T5 predict malignant nature of nodule with sensitivity 90%, specificity 95%, and 95% accuracy. Conclusions: Russ' modified TIRADS classification is reliable in both stratifying nodular thyroid disease based on the risk of malignancy and predicting thyroid malignancy. [ABSTRACT FROM AUTHOR]

Nodular gill disease (NGD) is an emerging condition associated with amoeba trophozoites in freshwater salmonid farms. However, unambiguous identification of the pathogens still must be achieved. This study aimed to identify the amoeba species involved in periodic NGD outbreaks in two rainbow trout (Oncorhynchus mykiss) farms in Northeastern Italy. During four episodes (February–April 2023), 88 fish were euthanized, and their gills were evaluated by macroscopic, microscopic and histopathological examination. The macroscopic and microscopic severity of the lesions and the degree of amoebae infestation were scored and statistically evaluated. One gill arch from each animal was put on non‐nutrient agar (NNA) Petri dishes for amoeba isolation, cultivation and subsequent identification with SSU rDNA sequencing. Histopathology confirmed moderate to severe lesions consistent with NGD and mild to moderate amoeba infestation. The presence of amoebae was significantly correlated with lesion severity. Light microscopy of cultured amoebae strains and SSU rDNA analysis revealed the presence of a previously characterized amoeba Naegleria sp. strain GERK and several new strains: two strains from Hartmannelidae, three vannelid amoebae from the genus Ripella and cercozoan amoeba Rosculus. Despite the uncertainty in NGD etiopathogenesis and amoebae pathogenic role, identifying known and new amoebae leans towards a possible multi‐aetiological origin. [ABSTRACT FROM AUTHOR]

This article explores the potential of plasma extrachromosomal circular DNA (eccDNA) as a diagnostic biomarker for distinguishing between benign and malignant thyroid nodules, specifically papillary thyroid carcinoma (PTC). The study utilizes Circle-seq technology and machine learning to analyze eccDNA profiles in plasma samples from healthy controls, nodular thyroid goitre patients, and PTC patients. The results show significant differences in eccDNA counts and genomic characteristics between the groups, suggesting the potential of eccDNA as a non-invasive biomarker for diagnosing thyroid cancer. However, the study acknowledges the limitation of a small sample size and the need for further research to validate the findings. [Extracted from the article]

Simple Summary: In this paper, a three-round nested PCR assay with high specificity and sensitivity (2.62 copies/reaction), employing the Pseudomonas plecoglossicida sctU gene, was established. The detection system was used to detect large yellow croaker samples in the Zhejiang and Fujian areas. It was found that March and April were the peak times of visceral white nodules disease, which was inversely related to temperature. Using this detection method, early detection of visceral white nodules disease in large yellow croakers could be realized. The visceral white nodules disease in the internal organs of Larimichthys crocea has caused significant harm in the aquaculture of this species, with Pseudomonas plecoglossicida considered one of the core pathogens causing this disease. In this study, we designed three pairs of specific nested PCR primers targeting the sctU gene of P. plecoglossicida, a crucial component of the Type III secretion system (T3SS), which is instrumental in bacterial pathogenesis and virulence. Through the optimization of PCR reaction conditions, specificity testing, and sensitivity determination, a method was established for the accurate detection of P. plecoglossicida. This method yielded single amplification products, exhibited a false positive rate of zero for reference bacteria, and achieved a detection sensitivity of a minimum of 2.62 copies/reaction for the target sequence. Using the detection method, we conducted analyses on the diseased populations of L. crocea, involving a total of 64 screened fishes along the southeast coast of China from 2021 to 2023. The results revealed that the infection rate of P. plecoglossicida in diseased L. crocea exceeded over 90% in March and April, while in other months, the maximum recorded infection rate was merely 10%. The detection method developed in this study shows potential for early warning and routine monitoring of visceral white nodules disease in the internal organs of species such as L. crocea. [ABSTRACT FROM AUTHOR]

Background: Thyroid gland abscess is a rare pathology with life-threatening complications when there is a delay in diagnosis. However, physicians should be aware of and consider this differential in patients with anterior neck swelling having acute onset compressive symptoms to ensure early diagnosis and management. Case Presentation: A 62-year-old female patient presenting with worsening of painful anterior neck swelling with associated fever, shortness of breath, and difficulty swallowing. The patient was found to have a thyroid abscess causing upper airway obstruction, against a background of follicular nodular disease found on clinical examination, cytology and fluid analysis from aspirate, biopsy, ultrasonography, and computed tomography. The patient was managed with endotracheal intubation and was subsequently discharged after recovery with antibiotic therapy, incision and drainage, and thyroid lobectomy. Conclusion: Thyroid abscess is an uncommon, critical clinical condition with high morbidity and mortality. Thyroid gland abscess should be considered while evaluating patients presenting with acute onset anterior neck swelling. Satisfactory clinical outcomes could be achieved with early diagnosis and proper management. [ABSTRACT FROM AUTHOR]

Background: Active surveillance has been an option for patients with low-risk papillary thyroid carcinoma (PTC). However, whether delayed surgery leads to an increased risk of local tumor metastasis remain unclear. We sought to investigate the impact of observation time on central lymph node metastasis (CLNM) and multifocal disease in patients with low-risk PTC. Methods: Patients who were diagnosed with asymptomatic low-risk PTC, and with a pathological maximum tumor size =1.5 cm by were included. The patients were classified into observation group and immediate surgery group, and subgroup analyses were conducted by observation time period. The prevalence of CLNM, lymph node (LN) involved >5, multifocal PTC and bilateral multifocal PTC were considered as outcome variables. The changing trend and risk ratio of prevalence over observation time were evaluated by Mann-Kendall trend test and Logistics regression. Results: Overall, 3,427 and 1,860 patients were classified to the observation group and immediate surgery group, respectively. Trend tests showed that decreasing trends both on the prevalence of CLNM and LN involved >5 over the observation time, but the difference was not statistically significant, and the prevalence of multifocal PTC and bilateral multifocal PTC showed the significant decreasing trends. After adjustment, multivariate analysis showed no statistically significant difference between observed and immediate surgery groups in the four outcome variables. Conclusion: In patients with subclinical asymptomatic low-risk PTC, observation did not result in an increased incidence of local metastatic disease, nor did the increased surgery extent in patients with delayed surgery compared to immediate surgery. These findings can strengthen the confidence in the active surveillance management for both doctors and patients. [ABSTRACT FROM AUTHOR]

Objective: This study aims to analyze the association between the occurrence of thyroid nodules and various factors and to establish a risk factor model for thyroid nodules. Methods: The study population was divided into two groups: a group with thyroid nodules and a group without thyroid nodules. Regression with the least absolute shrinkage and selection operator (Lasso) was applied to the complete dataset for variable selection. Binary logistic regression was used to analyze the relationship between various influencing factors and the prevalence of thyroid nodules. Results: Based on the screening results of Lasso regression and the subsequent establishment of the Binary Logistic Regression Model on the training dataset, it was found that advanced age (OR=1.046, 95% CI: 1.033-1.060), females (OR = 1.709, 95% CI: 1.342-2.181), overweight individuals (OR = 1.546, 95% CI: 1.1652.058), individuals with impaired fasting glucose (OR = 1.590, 95% CI: 1.1932.122), and those with dyslipidemia (OR = 1.588, 95% CI: 1.197-2.112) were potential risk factors for thyroid nodule disease (p<0.05). The area under the curve (AUC) of the receiver operating characteristic (ROC) curve for the Binary Logistic Regression Model is 0.68 (95% CI: 0.64-0.72). Conclusions: advanced age, females, overweight individuals, those with impaired fasting glucose, and individuals with dyslipidemia are potential risk factors for thyroid nodule disease. [ABSTRACT FROM AUTHOR]

To evaluate the current incidence of pulmonary hemorrhage and the potential factors contributing to its increased risk after percutaneous CT-guided pulmonary nodule biopsy and to summarize the technical recommendations for its treatment. In this observational study, patient data were collected from ten medical centers from April 2021 to April 2022. The incidence of pulmonary hemorrhage was as follows: grade 0, 36.1% (214/593); grade 1, 36.8% (218/593); grade 2, 18.9% (112/593); grade 3, 3.5% (21/593); and grade 4, 4.7% (28/593). High-grade hemorrhage (HGH) occurred in 27.2% (161/593) of the patients. The use of preoperative breathing exercises (PBE, p =0.000), semiautomatic cutting needles (SCN, p = 0.004), immediate contrast enhancement (ICE, p =0.021), and the coaxial technique (CoT, p = 0.000) were found to be protective factors for HGH. A greater length of puncture (p =0.021), the presence of hilar nodules (p = 0.001), the presence of intermediate nodules (p = 0.026), a main pulmonary artery diameter (mPAD) larger than 29 mm (p = 0.015), and a small nodule size (p = 0.014) were risk factors for high-grade hemorrhage. The area under the curve (AUC) was 0.783. These findings contribute to a deeper understanding of the risks associated with percutaneous CT-guided pulmonary nodule biopsy and provide valuable insights for developing strategies to minimize pulmonary hemorrhage. [ABSTRACT FROM AUTHOR]

Thyroid cancer incidence increased over 200% from 1992 to 2018, whereas mortality rates had not increased proportionately. The increased incidence has been attributed primarily to the detection of subclinical disease, raising important questions related to thyroid cancer control. We developed the Papillary Thyroid Carcinoma Microsimulation model (PATCAM) to answer them, including the impact of overdiagnosis on thyroid cancer incidence. PATCAM simulates individuals from age 15 until death in birth cohorts starting from 1975 using 4 inter-related components, including natural history, detection, post-diagnosis, and other-cause mortality. PATCAM was built using high-quality data and calibrated against observed age-, sex-, and stage-specific incidence in the United States as reported by the Surveillance, Epidemiology, and End Results database. PATCAM was validated against US thyroid cancer mortality and 3 active surveillance studies, including the largest and longest running thyroid cancer active surveillance cohort in the world (from Japan) and 2 from the United States. PATCAM successfully replicated age- and stage-specific papillary thyroid cancers (PTC) incidence and mean tumor size at diagnosis and PTC mortality in the United States between 1975 and 2015. PATCAM accurately predicted the proportion of tumors that grew more than 3 mm and 5 mm in 5 years and 10 years, aligning with the 95% confidence intervals of the reported rates from active surveillance studies in most cases. PATCAM successfully reproduced observed US thyroid cancer incidence and mortality over time and was externally validated. PATCAM can be used to identify factors that influence the detection of subclinical PTCs. • This study used high-quality data sources and rigorous calibration to develop, to our knowledge, the first cross-population microsimulation model to replicate thyroid cancer epidemiology in the United States over time. • This study demonstrated the use of a stakeholder advisory board comprising patients, providers, policymakers, and researchers in building an epidemiologic microsimulation model. • This study successfully explained the drastic increase in the incidence of thyroid cancer since the 1990s through modeling of changing diagnostic pathways over time. [ABSTRACT FROM AUTHOR]

Syphilis is becoming an increasingly concerning sexually transmitted infection in the primary care setting with a precipitous rise in cases in the USA over the past decade according to the CDC surveillance data. This rise in cases is particularly relevant in military medicine as the greatest increase in cases is among adults in their 20s. Nodular syphilis is a rare presentation of the secondary stage of syphilis, and contrary to the well-known maculopapular rash seen with syphilis infection, little is known about effective treatment of nodular manifestations of the disease. We present a case of a 54-year-old HIV-positive man with nodular secondary syphilis effectively treated with an empiric 2-week course of oral doxycycline. Initial differential diagnosis included erythema nodosum, arthropod vector disease, skin infection, and erythema elevatum diutinum. Biopsy demonstrated granulomatous dermatitis, and serology revealed positive Treponema pallidum antibodies with a rapid plasma reagin of 1:256, confirming the diagnosis of secondary syphilis with granulomatous dermatitis. This case indicates that clinicians should consider this unusual cutaneous presentation of secondary syphilis when evaluating patients with nodular skin lesions, especially in high-risk individuals. [ABSTRACT FROM AUTHOR]

Background: Thyroid autoimmunity is one of the most prevalent autoimmune diseases. However, its association with extra-thyroid diseases and mortality risk in the general population remains uncertain. Our study aims to evaluate the association of thyroid autoimmunity with extra-thyroid disease and the risk of mortality. Methods: A prospective cohort study was conducted using data from the National Health and Nutrition Examination Survey (NHANES) with participants from 2007-2008, 2009-2010, and 2011-2012, tracking their mortality until 2019. Associations between thyroid autoimmunity, which was defined as having positive thyroid peroxidase antibody (TPOAb) and/or thyroglobulin antibody (TgAb), and extra-thyroid disease including diabetes, hypertension, cardiovascular disease, chronic lung disease, arthritis, cancer and chronic renal disease and the risk of mortality were investigated. Results: A total of 7431 participants were included in this study. Positive The prevalence of positive TgAb was 7.54%, and positive TPOAb prevalence was 11.48%. TgAb was significantly associated with diabetes (Model 1: OR=1.64, 95% CI:1.08-2.50; Model 2: OR=1.93, 95% CI: 1.21-3.08) and hypertension (Model 1: OR=0.67, 95% CI: 0.49-0.91; Model 2: OR=0.62, 95% CI: 0.44-0.88). TPOAb was associated with a lower prevalence of chronic lung disease (model 1: OR=0.71, 95% CI: 0.54-0.95; model 2: OR=0.71, 95% CI: 0.53-0.95). No associations were observed between TgAb, TPOAb and other extra-thyroid diseases. Neither TgAb nor TPOAb were associated with all-cause mortality or heart disease mortality. Conclusion: TgAb was linked to a higher prevalence of diabetes and a lower prevalence of hypertension, while TPOAb was associated with a decreased prevalence of chronic lung disease. However, neither TgAb nor TPOAb posed a risk for all-cause mortality or heart disease mortality. [ABSTRACT FROM AUTHOR]

Pleomorphic dermal sarcoma (PDS) is a rare dermal-based mesenchymal tumor that shares histologic characteristics with atypical fibroxanthoma (AFX), but demonstrates aggressive features increasing the risk of local recurrence or metastases. We report a unique case of a 62-year-old man with a recent history of left-groin PDS, now with a 2-cm pedunculated left tonsillar mass and two hypermetabolic nodules in the left thyroid. Microscopically, the tonsillar biopsy demonstrated infiltrating spindle cell neoplasm composed of highly pleomorphic tumor cells with abundant mitoses. The left hemithyroidectomy specimen also demonstrated similar pleomorphic spindled tumor cells infiltrating thyroid parenchyma with perineural invasion and focal osseous and chondroid components. Immunohistochemically, both tumors were diffusely positive for smooth muscle actin. Focal nonspecific positive staining with p53, SATB2, and S100 was observed in the thyroid tumor. Additional markers, including p40, CK5, p63, pancytokeratin, CAM5.2, S100, SOX10, Melan-A, HMB45, CD45, CD68, CD163, caldesmon, p16, TTF1, PAX8, and calcitonin, were all negative. INI-1 expression was retained. Molecular analysis showed that the tumor harbored PDGFRA deletion of exon 9 and amplification, PTCH1 A300fs*24, MDM2 amplification, CDKN2A/B loss, and FRS2 amplification. Compared with the patient's groin tumor, the current tumors showed similar morphology. Overall, the histologic and immunohistochemical findings are consistent with metastatic PDS to the tonsil and thyroid. Although PDS is commonly found on the sun-exposed skin in the elderly, this case highlights an unusual primary site as well as peculiar locations for the metastasis of PDS. Treatment and management of the patient are also considered. [ABSTRACT FROM AUTHOR]

Background: Thyroid disorders are one of the most common endocrine disorders. Benign thyroid swellings include solitary thyroid nodules and multinodular goiter. Most of the thyroid swellings are asymptomatic. USG neck and FNAC aid each other in differentiating neoplastic from non-neoplastic lesions. The present study was done to understand clinic-pathological findings of multinodular goiter. Materials and Methods: 50 patients diagnosed with multinodular goiter were included in this prospective study, conducted in the Department of ENT, Surabhi Institute of Medical Sciences, Siddipet. Results: Females are most commonly affected. The majority belong to 40-60 yrs of age group. Nonneoplastic lesions were more common than neoplastic lesions. All patients were euthyroid. All patients underwent surgical management. In histopathological examination, nodular goiter was most common. Conclusion: Multinodular goiter most commonly affects females in the middle age group. Most of the patients are asymptomatic. Surgical management is the definitive mode of treatment. [ABSTRACT FROM AUTHOR]

Introduction: Non functional parathyroid carcinoma (PC) is one of the rarest malignant neoplasms. Due to the lack of symptoms and laboratory findings, it is mostly diagnosed in late AQ2 stages, when local invasion and dissemination are already present. However, our case is an exception, because it was detected in early stage, with no local invasion present. We present a case of the smallest non-functional PC yet reported and review of the literature. Case presentation: A 47-year-old woman was admitted to outpatient Clinic where fine-needle aspiration biopsy (FNAB) of bilateral thyroid nodules (slide 1) and central neck mass (slide 2), which was suspected to be an enlarged lymphatic nodule or parathyroid gland was performed. Results came back as Bethesda I-colloid (slide 1), and Bethesda IV (slide 2), stating that it is hard to distinguish thyroid gland oxyphil lesions from parathyroid cells. Total thyroidectomy was performed as well as excision of the left central neck mass, without any involvement of surrounding structures. Pathological examination revealed bilateral thyroid follicular nodular disease, papillary microcarcinoma, and parathyroid carcinoma with vascular and capsular invasion, measuring 10 × 8 × 7 mm. The immunohistochemical profile included positive PTH, Chromogranin A, and negative TTF1. Conclusion: Non-functional PC is usually diagnosed in advanced stages, already involving adjacent structures; however, this case presents a rare example. It is important not to exclude PC as a differential diagnosis in the absence of elevated Ca and PTH serum levels. Follow-up will be difficult, since there are no prognostic parameters to rely on. [ABSTRACT FROM AUTHOR]

Carney complex (CNC) is an ultrarare disorder causing cutaneous and cardiac myxomas, primary pigmented nodular adrenocortical disease, hypophyseal adenoma, and gonadal tumours. Genetic alterations are often missed under routine genetic testing. Pathogenic variants in PRKAR1A are identified in most cases, while large exonic or chromosomal deletions have only been reported in a few cases. Our aim was to identify the causal genetic alteration in our kindred with a clinical diagnosis of CNC and prove its pathogenic role by functional investigation. Targeted testing of PRKAR1A gene, whole exome and whole genome sequencing (WGS) were performed in the proband, one clinically affected and one unaffected relative. WGS identified a novel, large, 10,662 bp (10.6 kbp; LRG_514t1:c.-10403_-7 + 265del; hg19, chr17:g.66498293_66508954del) deletion in the promoter of PRKAR1A in heterozygous form in the affected family members. The exact breakpoints and the increased enzyme activity in deletion carriers compared to wild type carrier were proved. Segregation analysis and functional evaluation of PKA activity confirmed the pathogenic role of this alteration. A novel deletion upstream of the PRKAR1A gene was proved to be the cause of CNC. Our study underlines the need for WGS in molecular genetic testing of patients with monogenic disorders where conventional genetic analysis fails. [ABSTRACT FROM AUTHOR]

Importance: Overt hyperthyroidism, defined as suppressed thyrotropin (previously thyroid-stimulating hormone) and high concentration of triiodothyronine (T3) and/or free thyroxine (FT4), affects approximately 0.2% to 1.4% of people worldwide. Subclinical hyperthyroidism, defined as low concentrations of thyrotropin and normal concentrations of T3 and FT4, affects approximately 0.7% to 1.4% of people worldwide. Untreated hyperthyroidism can cause cardiac arrhythmias, heart failure, osteoporosis, and adverse pregnancy outcomes. It may lead to unintentional weight loss and is associated with increased mortality. Observations: The most common cause of hyperthyroidism is Graves disease, with a global prevalence of 2% in women and 0.5% in men. Other causes of hyperthyroidism and thyrotoxicosis include toxic nodules and the thyrotoxic phase of thyroiditis. Common symptoms of thyrotoxicosis include anxiety, insomnia, palpitations, unintentional weight loss, diarrhea, and heat intolerance. Patients with Graves disease may have a diffusely enlarged thyroid gland, stare, or exophthalmos on examination. Patients with toxic nodules (ie, in which thyroid nodules develop autonomous function) may have symptoms from local compression of structures in the neck by the thyroid gland, such as dysphagia, orthopnea, or voice changes. Etiology can typically be established based on clinical presentation, thyroid function tests, and thyrotropin-receptor antibody status. Thyroid scintigraphy is recommended if thyroid nodules are present or the etiology is unclear. Thyrotoxicosis from thyroiditis may be observed if symptomatic or treated with supportive care. Treatment options for overt hyperthyroidism from autonomous thyroid nodules or Graves disease include antithyroid drugs, radioactive iodine ablation, and surgery. Treatment for subclinical hyperthyroidism is recommended for patients at highest risk of osteoporosis and cardiovascular disease, such as those older than 65 years or with persistent serum thyrotropin level less than 0.1 mIU/L. Conclusions and Relevance: Hyperthyroidism affects 2.5% of adults worldwide and is associated with osteoporosis, heart disease, and increased mortality. First-line treatments are antithyroid drugs, thyroid surgery, and radioactive iodine treatment. Treatment choices should be individualized and patient centered. This review summarizes current evidence regarding the pathophysiology, clinical presentation, and treatment of hyperthyroidism, focusing on the management of Graves disease and toxic nodular disease. [ABSTRACT FROM AUTHOR]

Background: The incidence of thyroid malignancy is increasing globally and this results in the growing number of patients facing increasing wait times for ultrasound (US) guided fine needle aspiration cytology (FNAC) for diagnosis. The objective of this study is to investigate the accuracy of surgeon performed US guided FNAC of thyroid nodules in the outpatient setting. Methods: This was a retrospective cross-sectional study on patients who underwent US guided FNAC followed by thyroidectomy between July 2019 and September 2022. US TI-RADS grade, FNAC Bethesda category and final histology were obtained from medical records and analysed. Result: There were 122 biopsy samples from 103 patients with a female gender preponderance of 89.3% and mean age of 46.5 years old. The majority of nodules biopsied were TI-RADS 4 and 5 (44.3% and 37.7%). Of the FNAC samples, 13.1% were non diagnostic, 27.9% benign, 14.7% atypia, 14.7% follicular neoplasm, 16.4% suspicious of malignancy and 13.1% were malignant. On final histology, adenomatoid nodules with nodular hyperplasia made up 82.5% of benign nodules and 94.9% of malignancies were papillary thyroid carcinomas (PTC). The overall sensitivity, specificity, positive predictive value, negative predictive value and accuracy were 88.9%, 82.4%, 84.2%, 87.5% and 85.7% with higher accuracy rate (90.1%) when used in TI-RADS 5 nodules. Conclusion: Surgeon performed US guided FNAC for thyroid nodules is feasible and can be done in the outpatient setting thereby reducing time taken to reach a diagnosis. Standardizing techniques and use of additional modalities such as elastography may improve yield and diagnostic rates. [ABSTRACT FROM AUTHOR]

Nodular Gill Disease (NGD) is an emerging pathogenic condition that causes gill damage and mainly affects farmed freshwater fish, rainbow trout (Oncorhynchus mykiss) in particular, and this inevitably generates noticeable economic losses for the industry. The present study aimed to assess the prevalence of NGD in the Autonomous Province of Trento, a highly productive area located in Northeastern Italy, traditionally suited to rainbow trout production, and to identify possible risk factors for the introduction of this disease in trout farms. The necessary data were obtained through a questionnaire and the collection of fish samples. According to the data analysis, 42% of the investigated farms tested positive for NGD. The two possible risk factors identified for its introduction in farms are the presence of other diseases in the same farm (OR = 17.5; 95% CI = 2.7; 111.5) and having farms located 5 km upstream (OR = 24.8; 95% CI = 2.9; 211.1). These results highlight (i) a possible impairment of the immune system caused by other diseases as a predisposing factor to the manifestation of the pathology and (ii) the role of water in spreading pathogens. [ABSTRACT FROM AUTHOR]

DICER1 syndrome is an inherited condition associated with an increased risk of developing hamartomatous and neoplastic lesions in diverse organs, mainly at early ages. Germline pathogenic variants in DICER1 cause this condition. Detecting a variant of uncertain significance in DICER1 or finding uncommon phenotypes complicate the diagnosis and can negatively impact patient care. We present two unrelated patients suspected to have DICER1 syndrome. Both females (aged 13 and 15 years) presented with multinodular goiter (thyroid follicular nodular disease) and ovarian tumours. One was diagnosed with an ovarian Sertoli-Leydig cell tumour (SLCT) and the other, with an ovarian juvenile granulosa cell tumour, later reclassified as a retiform variant of SLCT. Genetic screening showed no germline pathogenic variants in DICER1. However, two potentially splicing variants were found, DICER1 c.5365-4A>G and c.5527+3A>G. Also, typical somatic DICER1 RNase IIIb hotspot mutations were detected in the thyroid and ovarian tissues. In silico splicing algorithms predicted altered splicing for both germline variants and skipping of exon 25 was confirmed by RNA assays for both variants. The reclassification of the ovarian tumour, leading to recognition of the association with DICER1 syndrome and the characterization of the germline intronic variants were all applied to recently described DICER1 variant classification rules. This ultimately resulted in confirmation of DICER1 syndrome in the two teenage girls. [ABSTRACT FROM AUTHOR]

Human brucellosis is a common zoonotic disease in certain regions of the world, especially in rural populations, yet it is often neglected. The index patient presented with prolonged fever and headache. Examination revealed hepatosplenomegaly, and investigations revealed transaminitis with bicytopenia with serological evidence positive for Brucella. The radiological picture suggested granulomatous disease with miliary nodules, and a bone marrow examination revealed a noncaseating granuloma. The case was unique and challenging, as the clinical picture was consistent with epidemiologically prevailing tuberculosis, which is also seen in brucellosis-endemic countries. Brucellosis mimicked disseminated tuberculosis, making the case intriguing to diagnose and treat. The case demonstrated that physicians need to have a high index of suspicion for brucellosis, which should be actively investigated in cases with prolonged fever. It also illustrated the fundamental importance of teamwork and the centrality of the multidisciplinary team in the planning and prioritization of treatment. [ABSTRACT FROM AUTHOR]

With the increasing utilization of semi-thyroidectomy and rapid advancements in ultrasound-guided thermal ablation therapy for the management of papillary thyroid carcinoma (PTC) and PTC cervical lymph node metastasis, ultrasound-guided fine-needle aspiration biopsy (FNAB) has emerged as the predominant approach for the pre-treatment cytopathologic diagnosis of PTC. Numerous expert consensuses and practice guidelines have delineated the acquisition of sufficient, high-quality cellular specimens for cytological examination. However, new challenges keep emerging in the real-world practice of thyroid FNAB, primarily stemming from the perceptions and expertise of physicians or technicians who perform FNAB. The aim of this study was to delineate the key deficiencies in specimen collection during FNAB, elucidate principles of systematic thinking, and propose preventive measures for these issues, along with a range of innovative concepts and technical approaches. Effectively addressing these concerns will enhance FNAB implementation and facilitate advancements in novel therapeutic modalities, such as thermal ablation, to ameliorate prognosis. [ABSTRACT FROM AUTHOR]

Nodular gill disease (NGD) is an infectious condition characterized by proliferative gill lesions leading to respiratory problems, oxygen deficiency and mortality in fish. Globally, NGD primarily impacts freshwater salmonids in intensive aquaculture systems. In recent years, numerous outbreaks of severe gill disease have affected more than half of the larger rainbow trout (Oncorhynchus mykiss) farms in Switzerland, mainly during spring and early summer. Mortality has reached up to 50% in cases where no treatment was administered. Freshwater amoeba are the presumed aetiologic agent of NGD. The gross gill score (GS) categorising severity of gill pathology is a valuable first‐line diagnostic tool aiding fish farmers in identifying and quantifying amoebic gill disease (AGD) in farmed marine salmonids. In this study, the GS was adapted to the NGD outbreak in farmed trout in Switzerland. In addition to scoring disease severity, gill swabs from NGD‐affected rainbow trout were sampled and amoeba were cultured from these swabs. Morphologic and molecular methods identified six amoeba strains: Cochliopodium sp., Naegleria sp., Vannella sp., Ripella sp., Saccamoeba sp. and Mycamoeba sp. However, the importance of the different amoeba species for the onset and progression of NGD still has to be evaluated. This paper presents the first description of NGD with associated amoeba infection in farmed rainbow trout in Switzerland. [ABSTRACT FROM AUTHOR]

This focus article was prepared by Caroline Fenemore and Vanessa Swinson of the APHA Cattle Species Expert Group, with Aiden Foster of the University of Bristol (Farm Animal Pathology Services). [ABSTRACT FROM AUTHOR]

This article discusses a study that used predictive metagenomic analysis to identify specific bacterial metabolic pathways in hidradenitis suppurativa (HS) tunnels. HS is a chronic inflammatory skin disease characterized by nodules, abscesses, tunnels, and scarring. Previous studies have identified metabolic pathways associated with inflamed nodules and follicular samples in HS patients, but no studies have investigated the metabolic pathways in HS tunnels. The study found that certain taxa, including Prevotella and Porphyromonas, were associated with HS tunnels and correlated with specific metabolic pathways, such as amino acid metabolism and glycosaminoglycan metabolism. These findings provide new insights into the potential therapeutic targets for HS treatment. [Extracted from the article]

The evaluation of suspected hypercortisolism is one of the most challenging problems in medicine. The signs and symptoms described by Dr Harvey Cushing are common and often create diagnostic confusion to even experienced endocrinologists. Cushing syndrome is classically defined as neoplastic hypercortisolism resulting from an ACTH-secreting tumor or from autonomous secretion of excess cortisol associated with benign or malignant adrenal neoplasia. The increasing recognition of the negative cardiometabolic effects of mild cortisol excess without overt physical signs of Cushing syndrome has led to more screening for endogenous hypercortisolism in patients with adrenal nodular disease, osteoporosis, and the metabolic syndrome. However, sustained or intermittent activation of the dynamic hypothalamic-pituitary-adrenal axis caused by chemical (alcohol), inflammatory (chronic kidney disease), psychologic (major depression), and physical (starvation/chronic intense exercise) stimuli can result in clinical and/or biochemical features indistinguishable from neoplastic hypercortisolism. Nonneoplastic hypercortisolism (formerly known as pseudo-Cushing syndrome) has been recognized for more than 50 years and often causes diagnostic uncertainty. This expert consultation describes two patients with features of Cushing syndrome who were referred for inferior petrosal sinus sampling for the differential diagnosis of ACTH-dependent hypercortisolism. Both patients were discovered to have nonneoplastic hypercortisolism: one from a covert alcohol use disorder and the other to chronic kidney disease. This consultation emphasizes the value of a good history and physical examination, appropriate laboratory testing, and the desmopressin acetate stimulation test to aid in distinguishing neoplastic from nonneoplastic hypercortisolism. [ABSTRACT FROM AUTHOR]

Introduction: The COVID-19 pandemic had a significant impact on the healthcare system, leading to a prioritization of hospital admissions in many countries. Romania was no exception, and it had to restrict patient access to medical services in hospitals with chronic diseases and oncological pathology, including thyroid cancer. This study aimed to compare the clinical and pathological factors of patients with nodular thyroid disease diagnosed and surgically treated during the two years before and after the COVID-19 pandemic, in a single medical institution. Methods: The retrospective study included 1505 patients who were diagnosed and operated on for nodular thyroid disease between January 2018 and December 2021. The patients were divided into two groups: the "PRECOVID" group (January 2018 to February 2020), and the "POSTCOVID" group (March 2020 to December 2021). The analyzed parameters included patients' gender, age, preoperative diagnosis, type of surgical intervention, and pathological diagnosis. Results: A significant decrease was observed in the number of surgeries performed for thyroid nodular disease during the COVID-19 pandemic period (450 versus 1055 cases, p<0.00001). There was a significant decrease in the number of surgical reinterventions (0.9% in the POSTCOVID group versus 2.9% in the PRECOVID group, p=0.01) and a significant increase in the number of total thyroidectomies (84.9% in the POSTCOVID group versus 80.1% in the PRECOVID group, p=0.02). We also observed a higher incidence of malignant/borderline tumors in the POSTCOVID group compared to the PRECOVID group (p=0.04) and a significantly higher frequency of aggressive forms of thyroid cancer in the POSTCOVID group (p=0.0006). Discussion: The COVID-19 pandemic had a significant impact on the surgical management of nodular thyroid disease, resulting in a decrease in surgeries and a change in the type of surgical interventions performed. The higher incidence of malignant/borderline tumors diagnosed during the pandemic highlights the importance of timely diagnosis and treatment of thyroid nodules to prevent cancer progression. [ABSTRACT FROM AUTHOR]

Background: The solitary node in thyroid is a palpably discrete swelling within an apparently normal thyroid gland. It is usually a benign lesion but from clinical standpoint the possibility of neoplastic disease is of major concern for surgeon and patient. As there is variability in the conclusion of various authors and there is no work about clinicopathology of solitary nodules of thyroid in our region, present study has been designed to evaluate the epidemiology, fine needle aspiration cytology and incidence of malignancy in solitary nodule. Aims: To review data regarding incidence of the solitary nodular goitre, analyse & discuss the various clinical presentation, percentage of malignancy and importance of histopathological examination. Methods: As per exclusion and inclusion criteria 80 patients with solitary nodule of thyroid were included in this study. Various data like age, sex, family history, duration of nodule, site and size of nodule were recorded. Thyroid function test, fine needle aspiration cytology and ultrasonographic finding were recorded from case record. Results: Out of all histopathological finding of nodules follicular adenoma was most common followed by multinodular goitre (25%) and Adenomatous goitre (7.5%). Carcinoma was present in (17.5 %) and thyroiditis is 7.5% patients. Conclusions: Most of the patients were Euthyroid and benign condition was more common than malignancy. Follicular adenoma was most common among benign lesion and papillary carcinoma was more common neoplasm. Most of the patients required hemithyroidectomy. [ABSTRACT FROM AUTHOR]

To elucidate the clinical characteristics of atypical retinal vascular proliferation in patients with von Hippel-Lindau (VHL) disease using OCT angiography (OCTA). Prospective, observational study. Fifty-seven consecutive patients with a diagnosis of VHL disease who visited Kyoto University Hospital between January 2019 and March 2022. Retinal hemangioblastomas (RHs) were assessed using multimodal imaging including OCTA. Retinal hemangioblastomas were classified into 2 phenotypes: nodular and flat. Nodular RHs were defined as typical RHs that were globular, well-circumscribed tumors, often accompanied with dilated feeder arterioles and draining venules. Flat RHs lacked a protruded red or colored mass, had variable and indistinct borders, and were not accompanied with feeder and draining vessels. The prevalence, distribution, and description of atypical flat RHs. Among 57 consecutive patients with VHL disease, 37 patients (64.9%) showed RHs in at least 1 eye. Bilateral RHs were seen in 23 patients (62.2%). Among 58 eyes of 37 patients with RHs, typical nodular RHs were detected in 54 eyes. Nodular RHs were seen mainly in the peripheral retina and occasionally in the peripapillary region, and they showed exudative changes in some cases. Flat RHs were detected in 7 eyes (12.1%). Four eyes showed only flat RHs, and 3 eyes showed both types in the same eye. Most flat RHs appeared as retinal hemorrhages or faint flat abnormal retinal vessels in the inner retina on the fundus examination, often within the macula area or peripapillary. In all eyes with flat RHs, OCTA showed abundant blood flow in the lesions. OCT revealed that flat RHs were seen mainly between the retinal nerve fiber layer and the ganglion cell layer, and occasionally within the inner nuclear layer. During a mean follow-up period of 20.4 ± 15.0 months, no flat RHs accompanied exudative change, tractional retinal detachment, or progression in size. Patients with VHL disease can demonstrate 2 distinct types of RHs: the classic nodular type and an atypical flat type. OCT angiography can be useful in improving the detection of atypical flat RHs, which can be difficult to detect clinically. Proprietary or commercial disclosure may be found after the references. [ABSTRACT FROM AUTHOR]

Background: Thyroid nodules (TNs) are among the most common thyroid lesions, and rates of these nodules have risen over the past three decades. As the majority of TN patients remain asymptomatic when these nodules are in the early stages of development, malignant nodules may continue to develop into thyroid cancer when not detected. As such, early screening and diagnosis-based strategies represent the most promising means of preventing or treating TNs and associated cancers. The present study was thus developed to explore TN prevalence among individuals in Luzhou, China. Methods: Here, thyroid ultrasonography and metabolic-related indicators from 45,023 adults undergoing routine physical examinations in the Health Management Center of a large Grade A hospital in Luzhou over the last three years were retrospectively reviewed in an effort to identify factors associated with TN risk and the detection of these nodules through univariate and multivariate logistic regression analyses. Results: In total, 13,437 TNs were detected in these 45,023 healthy adults for an overall 29.8% detection rate. This TN detection rate rose with age, and multivariate logistic regression analyses revealed that independent risk factors associated with TNs included greater age (≥ 31 years old), female (OR = 2.283, 95% CI: 2.177– 2.393), central obesity (OR = 1.115, 95% CI: 1.051– 1.183), impaired fasting glucose (OR = 1.203, 95% CI: 1.063– 1.360), overweight status (OR = 1.085, 95% CI: 1.026– 1.147), and obesity (OR = 1.156, 95% CI: 1.054– 1.268), while low BMI was a protective factor associated with lower rates of TN incidence (OR = 0.789, 95% CI: 0.706– 0.882). When results were stratified by gender, impaired fasting glucose was not an independent predictor of TN risk among males, while high LDL levels were an independent predictor of TNs among females, and other risk factors were not significantly changed. Conclusion: TN detection rates were high among adults in Southwestern China. Female, elderly individuals, individuals exhibiting central obesity, and those with high levels of fasting plasma glucose are more likely to develop TN. [ABSTRACT FROM AUTHOR]

Distinguishing between nontuberculous mycobacterial pulmonary disease (NTM-PD) and pulmonary tuberculosis (TB) is difficult. We aimed to evaluate the usefulness of gastric aspirate examination for NTM-PD diagnosis and for differentiating NTM-PD from other diseases, including pulmonary TB. We retrospectively collected data for 491 patients with negative sputum smears or a lack of sputum production at Fukujuji Hospital. We compared 31 patients with NTM-PD to 218 patients with other diseases (excluding 203 with pulmonary TB). Additionally, we compared 81 patients with NTM cultured from at least one sputum or bronchoscopy sample to the other 410 patients. Gastric aspirate examination for NTM-PD diagnosis showed 74.2% sensitivity and 99.0% specificity for culture positivity. There was no significant difference between the nodular bronchiectatic disease and cavitary disease types for culture positivity (p = 0.515). The significance of NTM isolation from gastric aspirate showed 64.2% sensitivity and 99.8% specificity for culture positivity. Gastric aspirate examination revealed NTM in one TB patient, allowing TB to be ruled out in 98.1% of patients with NTM cultured from gastric aspirates. Gastric aspirate examination is helpful for early-stage NTM diagnosis and ruling out pulmonary TB. This could lead to more accurate and timely treatment. [ABSTRACT FROM AUTHOR]

Management options for benign, autonomously functioning, and malignant thyroid nodules were limited to surgery or targeting by radioactive iodine before the availability of radiofrequency ablation (RFA). Despite being a relatively new technique, RFA may be favored for patients of high surgical risk, and for those who wish to avoid hypothyroidism. Although insurance coverage for the procedure can be a significant barrier, several groups of investigators have shown improved quality of life for RFA compared to surgery, due to the less invasive nature and favorable risk profile. Hyperthyroidism due to transient thyroiditis is a known risk of RFA, secondary to direct trauma and subsequent thyroid hormone release. Here we present a case of an adult with large, symptomatic, multinodular goiter, with no prior history of thyroid autoimmunity, who underwent RFA with successful volume reduction of two nodules, but who developed acute hyperthyroidism due to Graves disease eight weeks after RFA. Larger studies evaluating the risks of RFA should evaluate for incident hyperthyroidism, specifically for Graves disease/thyroid autoimmunity, as this could represent an additional risk of the procedure. [ABSTRACT FROM AUTHOR]

Objectives: Ultrasonography and fine-needle aspiration biopsy (FNAB) are the gold standard methods in the prediction of benign and malignant thyroid nodules. However, despite being easily applicable, FNAB is an invasive procedure. Less invasive biomarkers should be utilized in the diagnosis of thyroid malignancies. In this study, we aimed to determine the parameters that can be used in the diagnosis of differentiated thyroid cancer (DTC) based on the serum thyroid and thyroglobulin (TG) levels which are routinely checked in patients followed up for thyroid nodules. Methods: In the study, we evaluated patients who underwent thyroid surgery for nodular diseases between January 2015 and June 2022. Of the 1444 patients evaluated, 919 patients who met the inclusion criteria (normothyroid benign nodular disease or normothyroid DTC) were included in the study. Patients were divided into two groups as benign group (BG) and DTC group (DTCG). We compared patients' pre-operative serum thyroid and TG values and the diagnostic properties of their ratios. Results: Of the 919 patients included, 517 (56.3%) were in BG and 402 (43.7%) were in DTCG. In DTCG, 318 patients were female and 84 patients were male. The mean age in the DTCG was 47.8 years. Comparison of DTCG and BG revealed a significant difference between T3/T4 ratio (p=0.002), T3/TSH ratio (p=0.001), T4/TSH ratio (p=0.001), TG/TSH ratio (p=0.001), and TSH/TG ratio (p=0.001). However, evaluation of the specified values by ROC analysis showed that the T3/T4 ratio did not make a significant difference between the two groups (p=0.1), whereas the other values displayed a significant difference (p=0.001 for T3/TSH, p=0.001 for T4/TSH, p=0.001 for TG/TSH, and p<0.001 for TSH/TG). Conclusion: T3/TSH (cutoff =2.183), T4/TSH (cutoff=0.6), and TG/TSH (cutoff=29.67) values were found to be significant tumor markers for the prediction of malignancy in thyroid nodules, and low values were found to be associated with malignancy. TSH/TG (cutoff=0.031) value was also significant in predicting malignancy while high values were found to be associated with malignancy. Thyroid hormone and TG ratios may alter the preferred treatment method for thyroid nodules. [ABSTRACT FROM AUTHOR]

Thyroid is at the crossroads of immune dysregulation, tissue remodeling and oncogenesis. Autoimmune disorders, nodular disease and cancer of the thyroid affect a large amount of general population, mainly women. We wondered if there could be a common factor behind three processes (immune dysregulation, tissue remodeling and oncogenesis) that frequently affect, sometimes coexisting, the thyroid gland. The long pentraxin 3 (PTX3) is an essential component of the humoral arm of the innate immune system acting as soluble pattern recognition molecule. The protein is found expressed in a variety of cell types during tissue injury and stress. In addition, PTX3 is produced by neutrophils during maturation in the bone-marrow and is stored in lactoferrin-granules. PTX3 is a regulator of the complement cascade and orchestrates tissue remodeling and repair. Preclinical data and studies in human tumors indicate that PTX3 can act both as an extrinsic oncosuppressor by modulating complement-dependent tumorpromoting inflammation, or as a tumor-promoter molecule, regulating cell invasion and proliferation and epithelial to mesenchymal transition, thus suggesting that this molecule may have different functions on carcinogenesis. The involvement of PTX3 in the regulation of immune responses, tissue remodeling and oncosuppressive processes led us to explore its potential role in the development of thyroid disorders. In this review, we aimed to highlight what is known, at the state of the art, regarding the connection between the long pentraxin 3 and the main thyroid diseases i.e., nodular thyroid disease, thyroid cancer and autoimmune thyroid disorders. [ABSTRACT FROM AUTHOR]

Anti-contactin-1 (CNTN1) IgG4 antibody-associated nodopathies is an autoimmune antibody-mediated peripheral neuropathy with a unique clinical presentation, pathophysiology, electrophysiology, and therapeutic response. The critical histopathological features are a dense lymphoplasmacytic infiltrate, a storiform pattern of fibrosis, and obliterative phlebitis. Here, a 62-year-old male patient presented with subacute unilateral limb onset, progressive exacerbation, marked weakness of the extremities, cranial, and autonomic nerve involvement. Neurophysiology showed slowed motor nerve conduction velocity (MCV), prolonged distal motor delay (DML), slowed sensory nerve conduction velocity (SCV), decreased sensory nerve activity potential (SNAP) amplitude, decreased amplitude of bilateral neuromotor conduction, abnormal cutaneous sympathetic response (SSR) in both lower extremities, axonal damage, prolonged F-wave latency, and discrete waves. In the initial phase, there was a response to intravenous immunoglobulin (IVIG), and corticosteroids and rituximab were also effective. After 1 year follow-up, the patient improved significantly. This article reports on a patient with nodular disease with anti-contactin-1 (CNTN1) IgG4 antibodies and reviews the literature to improve clinicians' understanding of the disease. [ABSTRACT FROM AUTHOR]

Single-cell transcriptomic (scRNA-seq) and proteomic [cytometry time of flight (CyTOF) mass spectrometry] approaches have recently been applied to cells isolated from Dupuytren's nodules and have enabled us to comprehensively profile the complex cellular ecosystem within Dupuytren's nodules. This has highlighted the high degree of heterogeneity of both fibroblast and myofibroblast cell states. In silico trajectory analysis has facilitated the identification of myofibroblast precursors such as pericytes and resident fibroblasts. Differential gene analysis along the differentiation trajectory identified novel markers of pathogenic myofibroblasts, including CD82, podoplanin, TNFSF12A, and the transcription factors SCX and DMRT2. Interleukin 13 (IL-13) has recently been shown to have a role in Dupuytren's disease, where it is expressed by mast cells, and enhances the expression of profibrotic gene expression, which was sensitive to inhibition by the JAK inhibitor, tofacitinib. Tumour necrosis factor (TNF) has also been shown to be produced by both M2 macrophages and mast cells in DD, and chronic expression was maintained by a positive feedback loop of IL-33. TNF signals through TNFR2 to upregulate the expression of α-smooth muscle actin (α-SMA) and collagen. These findings led to the assessment of local injection of anti-TNF (adalimumab) into the nodules in a Phase 2b clinical trial, which met the primary endpoint of reduction in nodule hardness and the secondary endpoint of nodule size, suggesting the potential to control the progression of early-stage Dupuytren's disease. We review the biology of Dupuytren's disease (DD), a common localised fibrotic disorder of the hand. The disease develops through a complex interplay of genetic and environmental factors, and epigenetic signalling. The early-stage disease nodules comprise a complex milieu of stromal and immune cells which interact to promote disease development. Recently, inhibition of tumour necrosis factor (TNF) locally resulted in softening and a decrease in nodule size, potentially controlling disease progression. Unlike fibrotic disorders of the visceral organs, the easy access to tissue in DD patients enables dissection of the cellular landscape and molecular signalling pathways. In addition, the study of DD may have wider benefits in enhancing our understanding of less-accessible fibrotic tissues. [ABSTRACT FROM AUTHOR]

Current treatments for Dupuytren's disease are limited to late-stage disease when patients have developed flexion contractures and have impaired hand function. They all have limitations, including the risk of recurrence and complications. The use of treatments for early-stage disease, such as intralesional steroid injections or radiotherapy which lack a clear biological basis or evidence of effectiveness based robust randomized, double blind, placebo-controlled trials, highlights the desire of patients to access treatments before they develop significant flexion contractures. A detailed understanding of the cellular landscape and molecular signalling in nodules of early-stage disease would permit the identification of potential therapeutic targets. This approach led to the identification of tumour necrosis factor (TNF) as a target. A phase 2a clinical trial identified 40 mg in 0.4 mL adalimumab as the most efficacious dose and a subsequent randomized, double blind, placebo-controlled phase 2b trial showed that four intranodular injections at 3-month intervals resulted in decrease in nodule hardness and size on ultrasound scan at 12 months, and both parameters continued to decrease further at 18 months, 9 months after the final injection. This type of approach provides clinicians with a robust evidence base for advising their patients. [ABSTRACT FROM AUTHOR]

Introduction Prurigo nodularis (PN), a chronic inflammatory and pruritic skin condition with severely itchy skin nodules, substantially affects quality of life. Patients with PN are affected by highly pruritic lesions that can feature other sensations, such as stinging, burning, tingling, heat, and cold. These lesions can range in severity from a few nodules to several hundred, and in sizes from 10 millimeters to 2–3 cm. Objective To report the effect of dupilumab on pruritus and skin lesions in patients with PN according to the severity of their lesions at baseline, in a post hoc analysis of pooled data from two phase 3 trials. Materials & Methods In the two randomized, double-blind, placebo-controlled, 24-week studies LIBERTY-PN PRIME (NCT04183335) and PRIME2 (NCT04202679), adults with PN inadequately controlled by topical prescription therapies, or for whom those therapies are inadvisable, were randomized 1:1 to dupilumab 300 mg every 2 weeks or matched placebo. Efficacy was assessed from baseline to Week 24 through the Worst Itch Numerical Rating Scale (WI-NRS; scored 0–10; high scores represent a poorer outcome), and the Investigator's Global Assessment for PN-Stage score (IGA PN-S; scored 0–4; high scores represent more severe nodular disease). The PRIME and PRIME2 studies enrolled only patients with an IGA PN-S of 3 (moderate; 20−100 nodules) or 4 (severe; >100 nodules) at baseline. Results 311 patients were randomized (dupilumab/placebo n = 153/158), including 205 patients with moderate PN (IGA PN-S = 3) at baseline (dupilumab/placebo N = 103/102) and 104 patients with severe PN (IGA PN-S = 4) at baseline (dupilumab/placebo N = 50/54). Baseline demographics and disease characteristics were well balanced in both subgroups. At Week 24, significantly more dupilumab-treated patients achieved an IGA PN-S of 0 (no nodules) or 1 (almost clear; 1−5 nodules), whether they had moderate (52.4% vs 24.5%; nominal P = 0.0008) or severe (40.0% vs 7.4%; nominal P = 0.0014) PN at baseline, with a similar treatment effect (TE) vs placebo in both the moderate (27.9%) and severe (32.6%) subgroups. The proportion of patients with ≥3-point and ≥4-point improvement in WI-NRS, was also significantly greater in the dupilumab group than in the placebo group, whether their PN was moderate (68.9%/62.1% vs 34.3%/22.6%; nominal P = 0.0002/ P < 0.0001, respectively) or severe (72.0%/66.0% vs 31.5%/25.9%; nominal P = 0.0064/ P = 0.0046, resp.) at baseline. Treatment-emergent adverse events (TEAEs) occurred with higher rates in dupilumab-treated patients with moderate PN at baseline (71.6%) compared with placebo (57.8%). Patients with severe PN at baseline had similar rates of TEAEs in the dupilumab (48.0%) and placebo (55.6%) groups. Nevertheless, dupilumab-treated patients with moderate PN at baseline, and those with severe PN at baseline, had overall similar or lower rates vs placebo of serious TEAEs (3.9%/6.0% vs 8.8%/5.6%, resp.), severe TEAEs (4.9%/0.0% vs 5.9%/5.6%, resp.), and frequent TEAEs such as headache (6.9%/2.0% vs 5.9%/5.6%, resp.) and neurodermatitis (2.9%/2.0% vs 2.9%/14.8%, resp.). The incidence of conjunctivitis in dupilumab-treated patients was consistent with the known safety profile vs placebo in both the moderate and severe groups (4.9%/2.0% vs 2.0%/0.0%, resp.). Conclusion Dupilumab treatment for 24 weeks improves itch and skin lesions in patients with PN regardless of lesion severity at baseline, with an acceptable safety profile. [ABSTRACT FROM AUTHOR]

A retrospective study published in the International Journal of Dermatology examined the prevalence of malignancy and associated risk factors in patients with prurigo nodularis (PN), a debilitating skin disease characterized by itchy nodules. The study found that 27% of PN patients were diagnosed with concomitant malignancy, including non-melanoma skin cancer (NMSC) and other types of cancer such as melanoma, ovarian, breast, lung, uterine, cervical, and colon cancer, as well as cutaneous T-cell lymphoma and non-Hodgkin's lymphoma. The study also identified increased age at PN diagnosis and the presence of pain as significant risk factors for malignancy development. However, the study had limitations due to its retrospective nature and sample size. [Extracted from the article]

Lung damage caused by non-tuberculous mycobacteria (NTM) infections can be devastating to individuals that are predisposed to chronic respiratory colonization. Cystic fibrosis patients are at increased risk for diminished lung function and increased mortality from NTM pulmonary infections. Treatment regimens are often intense and prolonged. The case described in this report is of a 16-year-old male with cystic fibrosis infected with Mycobacterium abscessus who showed evidence of severe nodular pulmonary disease on chest computerized tomography. His intensive treatment phase was complicated by neutropenia and drug resistance, leading to the use of omadacycline. Because of rapid improvement clinically and on computed tomography, he was successfully treated with a modified, less intense continuation phase that included azithromycin, omadacycline, and inhaled amikacin. The patient also was switched from tezacaftor/ivacaftor to elexacaftor/tezacaftor/ivacaftor during the course of NTM treatment. [ABSTRACT FROM AUTHOR]

Thyroid disease and hyperparathyroidism (HPT) are among the most common endocrine disorders. Thyroid hormones play an important role in bone and calcium metabolism. The rate of HPT is greater in patients with thyroid disease than in the general medical population. Simultaneous occurrence of hyperthyroidism and hyperparathyroidism in the same patient is a rare combination. The clinical manifestations of hyperthyroidism may overshadow the more subtle and varied symptoms and signs of primary hyperparathyroidism. It poses difficult diagnostic and therapeutic problems. Both diseases, however, may have a profound influence on calcium metabolism. The resulting disturbances in thyrotoxicosis may simulate hyperparathyroidism. Contrariwise, the diagnosis of an associated parathyroid adenoma may be missed, or unnecessarily delayed because hypercalcemia is known to occur in hyperthyroidism. The coexistence of thyroiditis and thyroid nodules with parathyroid disorders is also known. Graves' disease (GD) and primary hyperparathyroidism (PHPT) are two common endocrine disorders. However the co- occurrence of hyperthyroidism and primary hyperparathyroidism (PHPT) is rare. However, the link between the two disorders remains unclarified. Hypercalcemia in Graves' hyperthyroidism should warrant a thorough investigation for concomitant primary hyperparathyroidism. Concomitant thyroid nodular disease and hyperparathyroidism (PHPT) disease has been also documented. PHPT is also reported in patients with thyroid malignancy. We hereby report a rare case of a patient who presented with coexistence of Hyperparathyroidism and Multinodular Goiter with Hashimotos Thyroiditis and Hyperthyroidism. [ABSTRACT FROM AUTHOR]

In the past few years there have been many cases in which the patient may get some form of nodule on the body and it becomes very difficult to identify the type of nodule and its relative disease. Sometimes the nodule may be a simple skin lesion or it may be cancerous cyst or it may be due to a severe condition of rheumatoid arthritis. This research work concentrates on classifying the nodules from a given data set of images and detecting the Rheumatoid Nodule (RN) and its risks. Many studies have been conducted for detection of different nodules but specific to rheumatoid nodule identification and its risks on other organs are minimum as per my cognizance. In imaging study, Deep Convolutional Neural Networks (DCNN) have shown efficient accomplishment, hence the model proposed uses dual three-dimensional Deep Convolutional Networks design for the detection of RN and an improved Res Net for classification, respectively. Rheumatoid Nodule detection was performed through Pure Deep Convolutional Networks (PDCNN) and then feature selection was done using Particle Swarm Optimization (PSO) and later classification was done using the Residual Network (Res-Net) on proficiently learned features from Particle Swarm Optimization. The Deep Learning (DL) model for Rheumatoid Nodule detection and classification, blended with medical aspects, aids in minimizing the errors and False Positive (FP) rate and help in early detection of rheumatoid nodule. The recommended system was assessed on dataset collected from different orthopaedic hospitals in the city and improved results were obtained in comparison to the prevailing approaches. [ABSTRACT FROM AUTHOR]