Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) – A case report and review of literature

CANVAS (cerebellar ataxia with neuropathy and vestibular areflexia syndrome) is a rare neurological syndrome of unknown etiology. The main clinical features include bilateral vestibulopathy, cerebellar ataxia and sensory neuropathy. An abnormal visually enhanced vestibulo-ocular reflex is the hallmark of the disease. We present a case of 58-year-old male patient who has demonstrated gait disturbance, imbalance and paresthesia of feet for 2 years. On examination ataxia of gait, diminished knee and ankle reflexes, absence of plantar reflexes, fasciculations of thigh muscles, gaze-evoked downbeat nystagmus and abnormal visually enhanced vestibulo-ocular reflex were found. Brain magnetic resonance imaging revealed cerebellar atrophy. Vestibular function testing showed severely reduced horizontal nystagmus in response to bithermal caloric stimulation. Nerve conduction study revealed loss of upper and lower limb sensory nerve action potentials. The course of illness was progressive with ataxic gait and unsteadiness as the most disabling symptoms. We report 4-year follow-up of the patient since the beginning of the disease

No evidence for reproductive isolation through sexual conflict in the bulb mite Rhizoglyphus robini

Sexual conflict leading to sexual antagonistic coevolution has been hypothesized to drive reproductive isolation in allopatric populations and hence lead to speciation. However, the generality of this speciation mechanism is under debate. We used experimental evolution in the bulb mite Rhizoglyphus robini to investigate whether sexual conflict promotes reproductive isolation measured comprehensively to include all possible pre- and post-zygotic mechanisms. We established replicate populations in which we either enforced monogamy, and hence removed sexual conflict by making male and female evolutionary interests congruent, or allowed promiscuity. After 35 and 45 generations of experimental evolution, we found no evidence of reproductive isolation between the populations in any of the mating systems. Our results indicate that sexual conflict does not necessarily drive fast reproductive isolation and it may not be a ubiquitous mechanism leading to speciation

CAV3 mutation in a patient with transient hyperCKemia and myalgia

Mutations in caveolin-3 (CAV3) can lead to different clinical phenotypes affecting skeletal or cardiac muscles. Here, we describe a patient with Klinefelter syndrome, ulcerative colitis and Sjögren syndrome, who developed transient hyperCKemia, myalgia and mild muscular weakness. Using whole exome sequencing (WES), a missense mutation G169A was found in the CAV3 gene. In addition, we identified a homozygous frameshift deletion in MS4A12 that may contribute to inflammatory bowel disease, further demonstrating usefulness of WES in dual molecular diagnoses

The immunoexpression of androgen receptor, estrogen receptors alpha and beta, vanilloid type 1 receptor and cytochrome p450 aromatase in rats testis chronically treated with letrozole, an aromatase inhibitor

The function of testis is under hormonal control and any disturbance of hormonal homeostasis can lead to morphological and physiological changes. Therefore the aim of the study was to investigate the expression of androgen and estrogen receptors (AR, ERs), vanilloid receptor (TRPV1), cytochrome P450 aromatase (P450arom), as well as apoptosis of cells in testis of adult rats chronically treated with letrozole (LT), a non-steroidal aromatase inhibitor, for 6 months. The testicular tissues were fixed in Bouin’s fixative and embedded in paraffin. Immunohistochemistry with monoclonal antibodies (abs) against AR, ERa, P450arom, and polyclonalabs against ERβ, TRPV1, caspase-3 was applied. Long-lasting estradiol deficiency, as an effect of LT treatment, produced changes in the morphology of testis and altered the expression of the studied receptors in cells of the seminiferous tubules and rate of cell apoptosis. The immunostaining for AR was found in the nuclei of Sertoli cells and the cytoplasm of spermatogonia and spermatocytes in III–IV stages of the seminiferous epithelium cycle. The intensity of staining for P450arom was lower in the testis of LT-treated rats as compared to control animals. The immunofluorescence of ERα and ERβ was observed exclusively in the nuclei of Leydig cells of LT-treated rats. There were no changes in localization of TRPV1, however, the intensity of reaction was stronger in germ cells of the seminiferous epithelium after LT treatment. The apoptosis in both groups of animals was observed within the population of spermatocytes and spermatids in II and III stages of the seminiferous epithelium cycle. In testis of LT-treated rats the immunoexpression of caspase-3 was additionally found in the germ cells in I and IV stages, and Sertoli, myoid and Leydig cells. In conclusion, our results underline the important role of letrozole treatment in the proper function of male reproductive system, and additionally demonstrate that hormonal imbalance can produce the morphological abnormalities in testis

Kronika naukowa, sprawozdania, przeglądy

Henryk Siwek – prasoznawca 1940–2013 (Walery Pisarek)  Dorobek prasoznawczy Henryka Siwka (bibliografia opracowań 1967–1998) (Władysław Marek Kolasa)  Europejski Kongres Kultury we Wrocławiu (Józef Szocki)  Ogólnopolska Konferencja Naukowa „Nowe media a prawo” (Anna Wilińska-Zelek

Rak rdzeniasty tarczycy — badanie PET/CT ze znakowanymi 68Ga analogami gastryny i somatostatyny

  Case presentation: a 75-year-old man with a 10-year history of nodular goitre was referred for clinical evaluation. The ultrasound scan revealed enlarged thyroid right lobe almost fully filled with a heterogeneous nodule with numerous calcifications. Fine-needle aspiration biopsy suggested medullary thyroid carcinoma (MTC). Before the surgery the patient was referred to the nuclear medicine department and somatostatin receptor imaging (SRS; 68Ga-DOTATATE) with PET/CT was performed. The scan demonstrated an increased uptake within the right thyroid mass. Subsequent PET/CT with 68Ga-gastrin analogue (MG48) revealed the same indications as the SRS: an increased alveolar uptake in the right thyroid mass without the signs of lymph node metastases. The patient underwent total thyroidectomy and central lymph nodes dissection. Histopathology examination confirmed the presence of MTC with vascular invasion, but without lymph node metastases (pT3NoMx according to the 7th edition of the AJCC Cancer Staging Manual). Immunohistochemical staining revealed positive reaction to calcitonin and CD56, whereas the reaction to thyroglobulin remained negative. The Ki-67 was 1%. Staining for SSTR2 and CCK2 showed high cytoplasmic expression in both cases. Knowledge of the presence of CCK2 receptor in MTC patients may be an important indication for the choice of diagnostic and therapeutic procedures. The presence of both the receptor types, cholecystokinin-2/gastrin and somatostatin, is possibly an interesting combination as far as the therapeutic target is concerned. (Endokrynol Pol 2016; 67 (1): 68–71)    W pracy przedstawiono opis 75-letniego mężczyzny z dziesięcioletnią historią wola guzkowego skierowanego do Kliniki w celu badań kontrolnych. W badaniu USG stwierdzono powiększenie prawego płata tarczycy, wypełnionego prawie całkowicie niejednorodnym guzkiem z licznymi zwapnieniami. W biopsji aspiracyjnej cienkoigłowej wysunięto podejrzenie raka rdzeniastego tarczycy (MTC). Przed zabiegiem pacjenta skierowano do Zakładu Medycyny Nuklearnej w celu scyntygrafii receptorów somatostatynowych (SRS; 68Ga-DOTATATE) wykonanej techniką PET/CT. W badaniu stwierdzono zwiększone gromadzenie znacznika w zmianie prawego płata tarczycy. Następnie wykonano badanie PET/CT z 68Ga-analogiem gastryny(MG48), stwierdzając podobnie jak w SRS, zwiększone gromadzenie znacznika w guzku prawego płata tarczycy, nie stwierdzono przerzutów do węzłów chłonnych. Wykonano całkowite wycięcie tarczycy i centralnych węzłów chłonnych. Badanie histopatologiczne potwierdziło obecność MTC z cechami inwazji naczyniowej, ale bez przerzutów do węzłów chłonnych (pT3NoMx według 7. edycji AJCC stopnia złośliwości). Barwienie immunohistochemiczne ujawniło pozytywną reakcję na kalcytoninę i CD56, podczas gdy reakcja Tg była negatywna. Ki-67 wynosiło 1%. Barwienie na obecność receptorów SSTR2 oraz CCK2 wykazało wysokie poziomy ekspresji cytoplazmatycznej, w obu przypadkach. Znajomość obecności receptora CCK2 u pacjentów z MTC może być ważna w trakcie wyboru procedur diagnostycznych i terapeutycznych. Obecność obu typów receptorów cholecystokininy-2/gastryny i somatostatyny potencjalnie może być wykorzystana w leczeniu celowanym. (Endokrynol Pol 2016; 67 (1): 68–71)

Superfoods and their role in disease prevention

Introduction and purpose Functional food also known by the term “superfoods” are rich in bioactive compounds with specific biological properties and due to that beneficial effects within the human body. Nowadays chronic degenerative diseases such as diabetes, cardiovascular disease, obesity and cancer are increasingly common in the population. Therefore the need to support treatment but also reduce the risk of these diseases in the first place increases as well. This is the reason for the great interest and growing trend in the consumption of superfoods, especially in Europe and the United States. The purpose of this article is to demonstrate the impact of selected superfoods on human health. State of knowledge Superfoods are considered nutrient-dense and rich in bioactive compounds that are beneficial for physical and mental health. Antioxidant activity is one of the most important properties for human health improvement. This activity is scavenging free radicals, thus preventing the development of various degenerative diseases. Today, more and more products are considered superfoods. Fruits, the examples of superfoods which will be discussed in this work, are well-available and require no heat treatment therefore incorporating them in one's diet seems to be an easy way to improve health as a consequence. Summary The potential beneficial role of superfoods is considered in health promotion and even preventing the development of diseases. However, this can only be possible if superfoods are part of a balanced diet and healthy lifestyle. The following article is a review of current knowledge and data available in publications in Pubmed and Google Scholar databases related to correlation between selected superfoods consumption and disease prevention

Radioguided surgery in patient with pancreatic neuroendocrine tumour followed by PET/CT scan as a new approach of complete resection evaluation — case report

Radioguided surgery using 68-gallium labelled somatostatin analogues is a promising method for detection of small, intra-abdominal, neuroendocrine neoplasm (NEN). However, due to high background activity (physiological uptake in e.g. spleen, adrenal glands and kidneys) tumours of the tail and body of pancreas might be impossible to detect with hand-held gamma probe. Therefore a new concept of intraoperative PET/CT scan of the resected tissue can be helpful in determining whether the tumour has been excised within the margins of healthy tissue. A 71-year-old woman with primary, non-metastatic NEN of the tail of pancreas is described. The tumour was diagnosed using MRI and PET/CT scan. Before operation patient was administered intravenously 80 MBq of 68Ga-DOTATATE. The surgery procedure was performed 60–180 minutes post injection. During the procedure pancreas was visualized, but the tumour could not be localized neither with palpation nor gamma probe. The tail of the pancreas was resected en bloc with spleen and adjacent lymph nodes. PET/CT scan of the tissue specimen was performed immediately followed by pathological examination. PET/CT scan of the resected tissue showed moderate activity in the tail of pancreas, and a small focus of high activity in the tail. Area of high SSTR expression in the tail corresponded with preoperative findings in MRI and whole-body PET/CT. Histopathological examination of the specimen confirmed the presence of neuroendocrine tumour grade 1. Immediate PET/CT scan of the surgical specimen can bring new quality to intraoperative assessment of completeness of resection of neuroendocrine tumours