It is no longer the time to disregard thyroid metastases from breast cancer: A case report and review of the literature

Background: Metastases to the thyroid gland are more frequent than previously thought, although most of them are occult or not clinically relevant. Overall, only 42 cases of metastases to thyroid from breast cancer have been reported thus far. Here we report the case of a patient with breast cancer metastatic to the thyroid. We also review the 42 previously reported cases (published between 1962 and 2012). This is the first review about metastases to thyroid gland from breast cancer. Case presentation: A 64-year-old woman of Caucasian origin was diagnosed with a lobular invasive carcinoma of the breast (luminal A, stage II). She received adjuvant chemotherapy, followed by endocrine therapy. During follow- up, fine-needle cytology of a thyroid nodule revealed malignant cells that were estrogen-positive, which suggested a diagnosis of metastases to the thyroid. Imaging did not reveal any other metastatic site and showed only enlargement of the left thyroid lobe and an inhomogeneous pattern of colloid and cystic degeneration and calcifications. The patient underwent left hemithyroidectomy. Histology of thyroid tissue showed a colloid goitre containing dispersed small atypical neoplastic cells with eccentric nuclei. Immunohistochemistry showed cytokeratin-19 and oestrogen receptor, but not tireoglobulin, e-cadherin or cytokeratin-7, thereby confirming metastases from a lobular breast carcinoma. Hormonal treatment is ongoing. Conclusion: This case report and first review of the literature on metastases to thyroid from breast cancer highlight the importance of a correct early diagnostic work-up in such cases. Indeed, a primary lesion should be distinguished from metastases given the different treatment protocol related to primary cancer and the clinical impact on prognosis

Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes

To investigate the involvement of small nerve fibers in Ehlers-Danlos syndrome (EDS). Patients diagnosed with EDS underwent clinical, neurophysiologic, and skin biopsy assessment. We recorded sensory symptoms and signs and evaluated presence and severity of neuropathic pain according to the Douleur Neuropathique 4 (DN4) and ID Pain questionnaires and the Numeric Rating Scale (NRS). Sensory action potential amplitude and conduction velocity of sural nerve was recorded. Skin biopsy was performed at distal leg and intraepidermal nerve fiber density (IENFD) obtained and referred to published sex- and age-adjusted normative reference values. Our cohort included 20 adults with joint hypermobility syndrome/hypermobility EDS, 3 patients with vascular EDS, and 1 patient with classic EDS. All except one patient had neuropathic pain according to DN4 and ID Pain questionnaires and reported 7 or more symptoms at the Small Fiber Neuropathy Symptoms Inventory Questionnaire. Pain intensity was moderate (NRS ≥4 and <7) in 8 patients and severe (NRS ≥7) in 11 patients. Sural nerve conduction study was normal in all patients. All patients showed a decrease of IENFD consistent with the diagnosis of small fiber neuropathy (SFN), regardless of the EDS type. SFN is a common feature in adults with EDS. Skin biopsy could be considered an additional diagnostic tool to investigate pain manifestations in EDS

Small fiber neuropathy: expanding diagnosis with unsettled etiology

Purpose of review Small fiber neuropathies (SFN) are a heterogeneous group of disorders affecting the thinly myelinated Aδ and unmyelinated C-fibers. The clinical picture is dominated by neuropathic pain, often accompanied by autonomic symptoms of variable severity. The underlying causes encompass metabolic conditions like diabetes mellitus, immuno-mediated disorders, infection, exposure to toxins, and gain-of-function variants in the genes encoding the Nav1.7, Nav1.8, and Nav1.9 sodium channel subunits, though the list of associated diseases continues to grow. Recently, increased attention has focused on immune-mediated forms, which led to the identification of potentially treatable subgroups. These discoveries have advanced our understanding of pathophysiological mechanisms. Recent findings Recent studies have broadened the spectrum of underlying conditions associated with SFN, including immune-mediated forms and links to SARS-CoV-2 infection and vaccines. Studies on genetic variants linked to unique clinical presentations have also yielded new insights. Furthermore, emerging perspectives highlighted disorders involving small fiber pathology that lacks typical clinical features of neuropathic pain, challenging traditional diagnostic criteria. Summary Deepening our understanding of the causes underlying SFN advances the identification of potential therapeutic targets. The clinical presentation of SFN can vary significantly and may not consistently correlate with specific underlying conditions. Therefore, a systematic investigation of possible causes through a structured diagnostic assessment is critical to unveil additional contributing factors

Prostate-specific antigen (PSA) screening and follow-up investigations in Māori and non-Māori men in New Zealand

Text. Pairwise sequence alignment between human SCN9A and homologous genes. (DOCX 34 kb

Konseptual Framework Untuk Pengukuran Kualitas Website Pada Sistem Informasi Akademik Dengan Metode Gqm

Konseptual framework yang diusulkan dalam penelitian ini berupa model konseptual yang merupakan gambaran proses pengukuran kualitas beserta tahapan yang dilakukan dalam pengukuran kualitas website sistem informasi akademik. Model konseptual yang sudah ada selama ini masih bersifat luas dan tidak spesifik pada domain tertentu. Terdapat banyak website yang dibangun oleh web developer, namun masih sedikit yang dibangun sesuai dengan kebutuhan pengguna. Salah satu website online dibidang pendidikan adalah sistem informasi akademik. Sistem informasi akademik merupakan layanan website oleh universitas dalam menyediakan informasi dan pengelolaan data-data akademik. Karakteristik dari sistem informasi akademik adalah academic content, periodic acccessibility, level of user authority, precission dan accurateness. Beberapa dari karakteristik tersebut kemudian dipetakan kedalam faktor-faktor kualitas yang diadopsi dari berbagai model, seperti ISO-9126, Website quality Model, dan academic website quality model. akademik. Hasil pemetaan tersebut memperoleh 5 faktor kualitas yang diusulkan untuk melakukan pengukuran kualitas, yaitu USAbility, functionality, content, efficiency dan reliability. Kelima faktor kualitas ini dijadikan sebagai tujuan pengukuran. Metode GQM digunakan untuk memperoleh metric internal agar menghasilkan pengukuran yang objektif dan kuantitatif. Metric-metric yang dihasilkan dari metode GQM divalidasi dengan menggunakan validasi empiris. Metric internal produk diterapkan dalam studi kasus sistem informasi akademik berbasis web universitas di Pekanbaru. Hasil validasi dari framework pengukuran yang dibangun adalah memiliki nilai baik pada faktor kualitas functionality, content dan reliability, dan nilai cukup pada faktor kualitas USAbility dan efficiency

Metabolic and anthropometric changes in early breast cancer patients receiving adjuvant therapy

Weight gain and metabolic changes have been related to survival of early breast cancer patients (EBC). ''However, factors influencing metabolism post-diagnosis are not fully understood. We measured anthropometric [body mass index (BMI), body weight, waist and hip circumferences, and waist-to-hip ratio] and metabolic (levels of insulin, glucose, H1Ac, total, HDL, and LDL cholesterol, triglycerides, and the homeostasis model assessment score [HOMA]) parameters in 433 pre- and post-menopausal women with EBC at diagnosis and 3, 6, 9, 12, and 24 months thereafter. At diagnosis, compared with post-menopausal women, pre-menopausal patients were more likely to be leaner and to have a lower BMI, smaller waist and hip circumferences, and waist-to-hip ratio. They had also lower glucose, HbA1c, and triglyceride levels and a lower HOMA score. Furthermore, they were more likely to have an estrogen- and/or progesterone-positive tumor and a higher proliferating breast cancer. During the first two post-diagnosis years, all women showed a significant increase of weight (+0.72 kg/year, P < 0.001), waist circumference (+1.53 cm/year, P < 0.001), and plasma levels of LDL cholesterol (+5.4 mg/dl per year, P = 0.045) and triglycerides (+10.73 mg/dl per year, P = 0.017). In patients receiving chemotherapy only, there was a significant increase in hip circumference (+3.16 cm/year, P < 0.001) and plasma cholesterol levels (+21.26 mg/dl per year, P < 0.001). We showed that weight, body fat distribution, and lipid profile changed in EBC patients receiving adjuvant therapy. These changes occurred during the first 2 years after diagnosis and were not specifically related to chemotherapy, menopausal status, or initial body weight

Facial onset sensory and motor neuronopathy: new cases, cognitive changes and pathophysiology

Purpose of review To improve our clinical understanding of facial onset sensory and motor neuronopathy (FOSMN). Recent findings We identified 29 new cases and 71 literature cases, resulting in a cohort of 100 patients with FOSMN. During follow-up, cognitive and behavioral changes became apparent in 8 patients, suggesting that changes within the spectrum of frontotemporal dementia (FTD) are a part of the natural history of FOSMN. Another new finding was chorea, seen in 6 cases. Despite reports of autoantibodies, there is no consistent evidence to suggest an autoimmune pathogenesis. Four of 6 autopsies had TAR DNA-binding protein (TDP) 43 pathology. Seven cases had genetic mutations associated with neurodegenerative diseases. Summary FOSMN is a rare disease with a highly characteristic onset and pattern of disease progression involving initial sensory disturbances, followed by bulbar weakness with a cranial to caudal spread of pathology. Although not conclusive, the balance of evidence suggests that FOSMN is most likely to be a TDP-43 proteinopathy within the amyotrophic lateral sclerosis–FTD spectrum

New clinical insight in amyotrophic lateral sclerosis and innovative clinical development from the non-profit repurposing trial of the old drug guanabenz

Drug repurposing is considered a valid approach to accelerate therapeutic solutions for rare diseases. However, it is not as widely applied as it could be, due to several barriers that discourage both industry and academic institutions from pursuing this path. Herein we present the case of an academic multicentre study that considered the repurposing of the old drug guanabenz as a therapeutic strategy in amyotrophic lateral sclerosis. The difficulties encountered are discussed as an example of the barriers that academics involved in this type of study may face. Although further development of the drug for this target population was hampered for several reasons, the study was successful in many ways. Firstly, because the hypothesis tested was confirmed in a sub-population, leading to alternative innovative solutions that are now under clinical investigation. In addition, the study was informative and provided new insights into the disease, which are now giving new impetus to laboratory research. The message from this example is that even a repurposing study with an old product has the potential to generate innovation and interest from industry partners, provided it is based on a sound rationale, the study design is adequate to ensure meaningful results, and the investigators keep the full clinical development picture in mind