An aggressive locoregional orbital rhabdomyosarcoma and Li Fraumeni syndrome

Introduction. Rhabdomyosarcoma (RMS) is the most common pediatric soft tissue sarcoma with 10 % of the cases occuring in the orbit. Patients often present with a rapidly developing proptosis and globe displacement. Aim. We aimed to present a very rare presentation of orbital RMS, with a giant exophytic orbital mass, a very rare presentation occuring in more advanced cases. Description of the case. A 3-year old girl presented to our hospital with a rapidly enlarging tissue like ulcerative mass. Her past medical history was remarkable with the diagnosis of embryonal rhabdomyosarcoma (RMS) and treatment with chemoradiotherapy at the age of 15 months. On magnetic resonance imaging (MRI), there was a giant heterogenously enhancing mass filling the right orbit and extending to the intracranial region. Li Fraumeni syndrome (LFS) was considered due to her sister death from neuroblastoma at an early age. Cytogenetic analysis revealed mutations of p53 gene, which supported our consideration. Conclusion. RMS is a highly malignant tumor which usually occurs sporadiacally. However, some rare syndromes are associated with increased incidence of RMS, such as LFS.

Pericallosal berry aneurysm associated with azygous anterior cerebral artery – a case report

Introduction. Azygos anterior cerebral artery is a rare variant of the anterior segment of the circle of Willis caused by an unusual fusion of the normally paired A2 segments of the anterior cerebral artery (ACA). Despite its rare occurrence, it is associated with various vascular and structural cerebral abnormalities, particularly berry aneurysms. Aim. We aimed to present a case of a 41-year-old female patient who presented to our neurology department with complaints of headache. Description of the case. She had a positive paternal history of aneurysmal subarachnoid hemorrhage. Magnetic resonance angiography (MRA) of her brain revealed an azygos ACA (bifurcating into two pericallosal arteries) which was associated with a saccular aneurysm at its bifurcation point. She was referred to the interventional radiology department for preventive endovascular treatment. Conclusion. Azygos ACA carries a high risk of aneurysm development and its occlusion can potentially compromise blood supply to both cerebral hemispheres. It is therefore crucial for clinicians to be aware of its significance and to report its presence in angiographic studies.

Neuroendocrine tumor of appendix located Spiegel hernia – case report and review of the literature

Introduction. Appendix, located within the Spiegel hernia is a rare condition. Few cases have been reported to date. Although it is generally asymptomatic, patients can apply with strangulation findings. Along with the physical examination findings, imaging methods play an important role in diagnosis and definitive diagnosis is made intraoperatively. Per-operative surgical method is determined according to the condition of the structures in the hernia sac. If an appendix is detected in the hernia sac, appendectomy is often preferred regardless of symptoms. Postoperative pathology is mostly benign but malign appendix pathologies should be kept in mind. Aim. Here, we aimed to present our case undergoing emergency surgery due to incarcerated hernia as it is the first case of appendix neuroendocrine tumor in the Spiegel hernia sac according to our literature review. Description of the case. A 77-year-old female patient who was admitted to the hospital with complaints of nausea and vomiting was evaluated as an emergency. In the clinical evaluation of the patient, we detected ileus due to hernia. We operated on the patient and found the appendix and cecum in the spiegel hernia. We did appendectomy and hernia repair. Histopathological examination of the appendix revealed a well-differentiated neuroendocrine tumor. Conclusion. Detection of the appendix in a Spiegel hernia is a rare condition. This is the first case of appendiceal malignancy in a Spiegelian hernia.

Metastasis of cancer from Merkel cells to the thyroid gland

Introduction. Merkel cell carcinoma (MCC) is a rare and aggressive neuroendocrine skin cancer. Aim. Herein described is a case of hypertensive patient, after removal of Merkel cancer of the left gluteus skin (2011), after pulmonary embolism (2013), with degenerative changes of the spine and uterine myoma, chronically treated with Warfarin, because of suspected thyroid cancer. Description of the case. A 70-year-old woman case after removing Merkel cancer of the left buttock skin (2011), after pulmonary embolism (2013), with degenerative changes of the spine and uterine fibroids treated chronically with Warfarin because of suspected thyroid cancer is described. Conclusion. Increasing evidence of Merkel cell carcinoma with immunodeficiency and neoplasia, and the management and outcome of these patients requires study.

Crohn’s disease complicated with a bladder-fistula – a case report

Introduction. Entero-bladder fistula (fistula entero-vesicalis) is a pathological connection between the lumen of the gastrointestinal tract and the bladder. Entero-bladder fistulas are not a common condition. The main reason for the formation of entero- bladder fistulas are intestinal diseases occurring within the intestinal loop adjacent to the bladder resulting in the formation of an abnormal channel, the connection between the above structures Aim. The aim is to present the causes of the fistulas can be divided into congenital and acquired (intestinal infection, cancer, Crohn’s disease, resulting from trauma and iatrogenic). Clinical manifestations of the biliary-bullous fistulae may be from the digestive or urinary tract. The most characteristic ailments are pneumaturia, fecuria, urge to urinate, frequent urination, lower abdominal pain, hematuria, urinary tract infection. Description of the case. The article discusses the case of a patient with Leśniowski-Crohn disease complicated with a bladder- fistula. The treatment of entero-bladder fistulas is primarily surgical, it consists in resection of the fistula together with resection of the affected intestine and bladder wall fragment. Conclusion. The test confirming the presence of an entero-bladder fistula is a test with oral administration of poppies, although it happens that the test result may be negative, especially in the case of a bladder-follicular fistula. Among the tests useful in the diagnosis of entero-bladder fistula include abdominal ultrasound, computed tomography, magnetic resonance imaging, endoscopic tests (colonoscopy or cystoscopy).

Comparative efficacy of kneading massage and pulsed mode ultrasound in the management of chronic knee osteoarthritis

Introduction. Osteoarthritis of the knee is the most common presentation of osteoarthritis with prevalence between 12% and 35% of general population and is considered the leading cause of musculoskeletal disability in the elderly population worldwide. Aim. The study compared efficacy of kneading massage and pulsed ultrasound on pain, joint stiffness and difficulty in knee osteoarthritis (KOA). Material and methods. Fifty subjects with radiological evidence of KOA participated in the study. They were randomly allocated into kneading massage group (KMG) (25) and Ultrasound group (USG) (25). KMG received kneading massage for 7 minutes while USG received pulsed mode ultrasound for 15 minutes. Treatment was twice in a week for six weeks. Pain intensity (PI), joint stiffness and difficulty were assessed pre, 3rd and 6th weeks of treatment session with semantic differential scale and WOMAC. The data were analyzed using descriptive and inferential statistics, alpha level was set at 0.05 Results. There was a significant difference in present PI (F=11.45,P=0.001) and stiffness (F= 11.32, P=0.003) in USG. There was a significant reduction in PI (F=7.95, P=0.001) and joint stiffness (F=8.86, P=0.003) in KMG. At the 6th week, there was a significant differences in PI (t=12.23,P=0.000) and stiffness (t=8.08, P=0.000) when USG (3.00+0.4, vs 7.14+ 1.49) was compared with KMG (3.16+0.5 vs 7.50+1.5). Conclusion. Ultrasound (US) and kneading massage (KM) reduced PI and joint stiffness of KOA effectively; however US reduced PI than KM while KM reduces joint stiffness than US.

Numerous gastrointestinal tumors

Introduction. Gastrointestinal stromal tumor (GIST) is most often locate in the region of the stomach and the proximal part of the small intestine. Aim. The multiple histopathological examination is described. Description of the case. Multiple GISTs are rare neoplasms that originate from the interstitial cells are described. Conclussion. GIST can occur in any part of the gut, they are most common in the stomach and small intestine, and less frequent in the colorectum and esophagus. Although their pathogenesis and clinical manifestations are different, these tumor syndromes confer a high risk for developing multiple neoplasms.

The predictive value of fetal middle cerebral artery/descending aorta ratio doppler parameter in the evaluation of perinatal results of intrauterine growth restriction

Introduction. Although there are various reasons for intrauterine growth restriction (IUGR), the main cause is inadequate utero- placental and feto-placental circulation. Aim. To determine the predictive values of fetal middle cerebral artery/descending aorta (MCA/DA) Doppler parameter in the evaluation of perinatal outcomes in pregnancies with IUGR. Material and methods. 15 with IUGR and 35 normal newborn, who were born at the 34th gestational week or over included into the study. Doppler ultrasonography (US) measurements were performed. The ratio of pulsatility index/resistive index (PI/ RI) from MCA, umbilical artery (Umb), DA was determined. Neonatal characteristics such as Apgar scores, neonatal intensive care unit (NICU) requirement, weight and sex were also recorded. Results. In the IUGR group, mean MCA/DA RI-PI, MCA/UmB RI-PI were 0.88±0.19, 0.86±0.28, 1.22±0.18 and 1.55±0.39, respectively. In the control group, mean MCA/DA RI-PI, MCA/UmB RI-PI were 1.15±0.13, 1.09±0.41, 1.37±0.35 and 1.82±0.44, respectively. There were statistically significant relationship between MCA/DA PI with cord blood pH value and NICU requirement, age with gravida, parity, MCA/UmB RI, MCA/UmB PI; gravida with age and parity; parity with age, gravida, weight, MCA/DA RI, PI ratios. Conclusion. Intrauterine MCA and DA Doppler US parameters of IUGR can be used safely in predicting perinatal outcomes in pregnancies with IUGR over 34 weeks.

Pathophysiological roles of ERα in the ER signaling mediated oncogenesis of breast cancer

Introduction. Estrogen receptors (ER) are members of nuclear receptors that act in the ER signaling pathway regulating the pathophysiology of hormone-responsive target cells including breast tissue. Aim. This detailled review literature was written on the pathophysiology of ER signaling as well as the effect altered ERα and associated pathway derangement in the oncogenesis of breast cancer. Material and methods. This review was performed according to systematic literature search of three major bibliographic databases (Scopus, PubMed, and Cochran). Analysis of the literature. In this pathway, estrogen receptor alpha (ERα) is a key estradiol-17β (E2) induced transcription factor that has been implicated in the initiation and development of the major fraction of breast cancers. Hence understanding the ERα-mediated ER signaling that results in alterations from normal phenotypic features of breast tissue to the oncogenic features of breast cancer is important. The oncogenic effect of ERα in ER signaling is driven by combinations of molecular assets within the cancer cells. Normally, the transcriptional activity of ERα is controlled by tight regulation of its protein level inside the cells. Altered stability and activity of ERα due to its phosphorylation, ubiquitination, glycosylation, sumoylation, and acetylation events can trigger oncogenic ER signaling. Conclusion. The function and activity of ERα is also modulated by its interaction with coregulators as well as crosstalk with oncogenic factors from other oncogenic pathways. These all events increase the complexity of the progression of ER+ breast cancer and its response to endocrine therapy.

Socio-economic status, iron deficiency anemia and COVID-19 disease burden – an appraisal

Introduction. Severe Acute Respiratory Syndrome-2, possesses varying degrees of susceptibility and lethality worldwide and WHO declared this as a pandemic of this century. Aim. In this background, the aim of this present narrative is to provide a complementary overview of how low iron stores and mild anemia offers protection from infectious diseases like COVID-19 by restricting the viral replication and also to suggest some potential adjuvant therapeutic interventions. Material and methods. Therefore, we performed a literature search reviewing pertinent articles and documents. PubMed, Google Scholar, Chemrxiv, MedRxiv, BioRxiv, Preprints and ResearchGate were investigated. Analysis of the literature. Recent studies reported drastic systemic events taking place that contribute to the severe clinical outcomes such as decreased hemoglobin indicating anemia, hypoxia, altered iron metabolism, hypercoagulability, oxidative stress, cytokine storm, hyper-ferritinemia and thus Multi Organ Failure, reportedly hailed as the hallmark of the COVID-19 hyper- inflammatory state. Interestingly it is globally observed that, countries with higher Socio-economic status (SES) have considerably lower prevalence of Iron Deficiency Anemia (IDA) but higher Case Fatality Rate (CFR) rate due to COVID-19 while, low SES countries characterized by the higher prevalence of IDA, are less affected to COVID-19 infection and found to have less CFR, which is almost half to that of the higher SES counterpart. Conclusion. Present review presumed that,low iron stores and mild anemia may play a beneficial role in some cases by offering protection from infectious diseases as low iron restricts the viral replication.Thus, suggested iron chelation or iron sequestration as an alternative beneficial adjuvant in treating COVID-19 infection.