We reviewed paralysis in wild birds with a special focus on the Baltic Sea paralytic syndrome recently described by Balk et al. (2009) by assessing multiple causative factors. The review showed that paralysis may occur in various species and that the aetiology can be divided into biotoxins, nutritional deficiencies, environmental ...

We know little about effective treatment for patients suffering from partial or complete Klüver-Bucy Syndrome (KBS) and other disruptive behaviors following a stroke. Reported cases have shown that certain medication, given alone or combined, can be partially effective. In this specific case study, we will try to demonstrate the effectiveness ...

Abstract Introduction: Carpal tunnel syndrome is a serious therapeutic problem and it considerably impairs the patients' quality of life. Despite many studies, the effectiveness of conservative treatment is still debatable. This study aimed to evaluate the immediate and long-term effects of conservative treatment involving ultrasound therapy combined with massage and ...

We present a case of marijuana-induced ST segment elevation mimicking Brugada syndrome in a young man. Cannabis can have a multitude of effects on the different organ systems of the body; we take a closer look at its effects on the cardiovascular system, including acute coronary syndrome, arrhythmias and congestive ...

Refractory nephrotic syndrome continues to be a therapeutic challenge despite advances in immunosuppression and blockade of the renin-angiotensin-aldosterone cascade. Adrenocorticotropic hormone (ACTH), a pituitary neuroimmunoendocrine polypeptide, was widely used in the 1950s as an effective therapy for childhood nephrotic syndrome, but has since been replaced by synthetic glucocorticoid analogues. In ...

Evidence is accumulating that environmental chemicals (ECs) including endocrine-disrupting compounds (EDCs) can alter female reproductive development, fertility and onset of menopause. While not as clearly defined as in the male, this set of abnormalities may constitute an Ovarian Dysgenesis Syndrome with at least some origins of the syndrome arising during ...

Chanarin-Dorfman syndrome (CDS) is an autosomal recessive metabolic disorder characterized by congenital ichthyosis and visceral complications due to accumulation of neutral lipids. CDS is caused by mutations in the ABHD5 (previously termed CGI-58) gene. In the present study, we assessed a young child presenting with ichthyosis and hepatomegaly, suggesting a ...

Statins are the main resource available to reduce LDL-cholesterol levels. Their continuous use decreases cardiovascular morbidity and mortality due to atherosclerosis. The administration of these medications demonstrated to be effective in primary and secondary prevention clinical trials in low and high risk patients. Specialists believe that a possible benefit of ...

Hepato-renal syndrome (HRS) is a serious complication in patients with advanced liver disease indicating a very poor prognosis. Nevertheless, effective treatment strategies have been introduced into clinical practice over the last decade. The combined treatment with terlipressin/albumin has been proven to be effective in most published studies and should be ...

Glucocorticoid (GC) plays an important role in anti-inflammatory, anti-allergic effects and immunosuppression, and has become a widely used drug in clinical departments. However, GC also produces a number of serious side effects at the same time. After GC acting on human body, the syndrome change has some regular pattern and ...

The successful pharmacologic treatment of intractable childhood epilepsy is predicated upon an accurate classification of the epilepsy syndrome. The selection of an antiepileptic drug is facilitated by the knowledge of syndrome-specific efficacy, the anticipation of potential side effects, and a careful risk-benefit assessment tailored to each patient. As such, the ...

Prostatitis syndrome is a frequent condition in men. It is not known in most patients if the prostate is the only organ involved. Therefore, the disease is characterized as chronic prostatitis-chronic pelvic pain syndrome (CP-CPPS). Although many studies have been performed in patients with CP-CPPS, current trial evidence is conflicting ...

OBJECTIVE To review the literature regarding the safety and efficacy of colchicine for the primary prevention of the postpericardiotomy syndrome (PPS). DATA SOURCES Searches of MEDLINE (1966-April 2011) and Cochrane Database (1993-April 2011) were conducted. Key search terms included postpericardiotomy syndrome, postcardiac injury syndrome, and colchicine. Limits were set for ...

Minimal change nephrotic syndrome (MCNS) usually responds to steroids but frequently relapses, requiring additional treatment with immunosuppressive agents. Rituximab is a chimeric murine/human monoclonal immunoglobulin G1 antibody that targets CD20, a B-cell differentiation marker. B-cell recovery begins at approximately 6 months following the completion of treatment. Rituximab has a beneficial effect, ...

Background Peroxisome proliferator-activated receptor gamma (PPARγ) agonists have beneficial effects on renal structure and function in models of diabetes and chronic kidney diseases. However, the increased incidence of weight gain and edema potentially limits their usefulness. We studied an acute minimal-change disease-like nephrotic syndrome model to assess effects of PPARγ ...

Tumour lysis syndrome (TLS) is caused by the disintegration of malignant cells, usually following the instigation of chemotherapy, although it may already be established at the time of initial presentation in a minority of cases. As a direct consequence of malignant cell breakdown, intracellular ions, proteins, nucleic acids and their ...

A 44-year-old male was admitted for numbness in the left arm. CT showed a tumor impacting on the spinal cord with an adjacent thoracic vertebral osteosclerotic lesion. The histopathology of the tumor showed diffuse proliferation of atypical plasma cells with expressed vascular endothelial growth factor (VEGF), which is a known ...

BACKGROUND: Lymphoma-associated hemophagocytic syndrome (LAHS) is a rare clinicopathological entity. It has been described with primary cutaneous lymphomas, mostly of the subcutaneous panniculitis-like T-cell type, and only once with cutaneous T-cell lymphoma (CTCL). METHODS: We report the cases of 5 patients with epidermotropic CTCL who developed LAHS and died shortly ...

Lymphoma is a common disease of the head and neck. Mucosal-associated lymphoid tissue (MALT) lymphoma constitutes a rare type of extranodal lymphoma. The Waldeyer's ring is one of the most common sites of occurrence, but MALT lymphoma may also arise in salivary glands, lung, stomach, or lacrimal glands. In the ...

Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation (WAGR) syndrome occurs sporadically due to deletion of chromosome 11p13. A variety of other abnormalities involving different systems have been reported in patients with WAGR syndrome. We report on a patient with WAGR syndrome with accompanying tetralogy of Fallot and hydrocephalus.

Managing oncocytoma in the setting of bilateral renal masses is a challenging scenario. Nevertheless, to our knowledge the pathological concordance of an oncocytic neoplasm in 1 kidney with tumors in the contralateral kidney is not known. We evaluated the influence of germline Birt-Hogg-Dubé mutation on concordance rates to assist in ...

OBJECTIVE: To describe the clinical features of iridocorneal endothelial (ICE) syndrome in a group of patients referred because of suspected iris melanoma. METHODS: In a noncomparative case series, we performed medical record review for clinical features of ICE syndrome in 71 patients. RESULTS: At presentation, the median patient age was ...

The effect of ezetimibe-statin combination on inflammatory markers in acute coronary syndrome is unknown. The aim of our study is to evaluate the effect of this combination on the lipid profile, the CRP hs and the sCD40 ligand levels in acute coronary syndrome (ACS) patients. This is a randomized, double-blind ...

We present a previously healthy 43-year-old woman with a cardiac mass that caused almost total occlusion of the inferior vena cava at its junction with the right atrium. The resected mass proved to be a thrombus. Preoperative imaging tests could not distinguish it from other intracardiac tumors such as myxoma. ...

Otits media is a common problem. Some of its complications that were seen frequently in the preantibiotic era are rare today. We report a case of an 8 year boy who presented with earache, retro-orbital pain and diplopia secondary to a sixth nerve palsy--Gradenigo's syndrome. In this syndrome infection from ...

Thyroid carcinomas can be sporadic or familial. Familial syndromes are classified into familial medullary thyroid carcinoma (FMTC), derived from calcitonin-producing C cells, and familial non-medullary thyroid carcinoma, derived from follicular cells. The familial form of medullary thyroid carcinoma (MTC) is usually a component of multiple endocrine neoplasia (MEN) IIA or ...

Basal cell carcinoma (BCC) is the most frequent cutaneous malignancy worldwide. This skin tumour is characterised by a broad phenotypic variability and distinct histopathological subtypes. It shows slow, locally invasive growth and only rarely metastasises. BCCs can occur either sporadically or in the context of genetic syndromes, including Gorlin syndrome, ...

The risk of malignant non-Hodgkin lymphoma is increased in primary Sjögren syndrome. In the literature, most studies evaluating this risk were conducted in tertiary reference university hospital. So, selection bias in series exists, in particular selection of the most severe cases in tertiary reference university care centers. Some studies had ...

Oncocytomas are unusual neoplasms of the head and neck that occur mainly in the parotid gland. The authors report a case of bilateral submandibular gland oncocytoma in a patient with multiple endocrine neoplasia 2B syndrome and neurofibromatosis type 1. Histopathology of the resection specimens demonstrated lymphovascular invasion but no other ...

A 44-year-old woman was referred with 3 mm of left enophthalmos and a deep superior sulcus. She was diagnosed 6 months earlier with silent sinus syndrome and had undergone a left middle-meatal antrostomy with improvement of her hypoglobus but not of her enophthalmos and superior sulcus deformity. Two milliliters of ...

PURPOSE: Patients with Lynch syndrome are much more likely to have generally rare upper urinary tract urothelial carcinoma but not bladder urothelial carcinoma. While the risk has been quantified, to our knowledge there is no description of how this population of patients with Lynch syndrome and upper urinary tract cancer ...

Costello syndrome is characterized by severe failure-to-thrive, short stature, cardiac abnormalities (heart defects, tachyarrhythmia, and hypertrophic cardiomyopathy (HCM)), distinctive facial features, a predisposition to papillomata and malignant tumors, postnatal cerebellar overgrowth resulting in Chiari 1 malformation, and cognitive disabilities. De novo germline mutations in the proto-oncogene HRAS cause Costello syndrome. ...

The common oncologic emergencies include Superior Vena Cava Syndrome (SVCS) and Superior Mediastinal Syndrome (SMS), Tumor Lysis Syndrome (TLS), Hyperleukocytosis and Febrile Neutropenia. SVCS denotes compression, obstruction or thrombosis of SVC and SMS denotes SVCS and tracheal compression. The diagnosis should be established early with minimum invasive techniques. Steroids should ...

We report the case of a 36-year-old woman with Cushing's syndrome caused by a malignant unresectable neuroendocrine carcinoma of the pancreas that developed bilateral ovarian metastases 7 years after diagnosis. In November 2001, because of abdominal pain and jaundice, the patient underwent radiological investigations and exploratory laparotomy that demonstrated the presence ...

A 38-yr-old woman reported intermittent pain, paresthesia, and weakness in the right upper limb and sweating on the right side of her face and ipsilateral upper limb during the last 4 yrs. Eventually, she was diagnosed with thoracic outlet syndrome, whereby sympathetic nervous system involvement was thought to ensue because ...

With intensified treatment leading to longer survival, complications of therapy for brain tumours are more frequently observed. Regarding radiation therapy, progressive and irreversible white matter disease with cognitive decline is most feared. We report on four patients with reversible clinical and radiological features occurring years after radiation for brain tumours, ...

The available data upon which to act in caring for patients with functioning thyroid cancer and thyroglobulin elevation/negative iodine scintigraphy (TENIS) are imperfect, almost never coming from randomized, blinded studies. When the serum thyroglobulin exceeds 2-10 ng/mL, one should use the latest imaging equipment available to find metastatic disease, especially ...

Poland's syndrome is a rare congenital development malformation characterized by unilateral chest wall hypoplasia and ipsilateral hand abnormalities. It is also known to be associated with some malignant diseases. We herein report a case of Poland's syndrome associated with invasive ductal carcinoma of breast, and review the literatures to investigate ...

Muir-Torre syndrome (MTS), a subtype of Lynch syndrome II, presents as at least one internal malignancy associated with at least one sebaceous skin tumor. This autosomal-dominant genetic disorder is thought to arise from microsatellite instability. Although not all patients with sebaceous tumors have MTS, even a single biopsy-proven sebaceous adenoma ...

Neuroendocrine tumors (NETs) are rare, slow-growing neoplasms characterized by their ability to store and secrete different peptides and neuroamines. Some of these substances cause specific clinical syndromes whereas others are not associated with specific syndromes or symptom complexes. NETs usually have episodic expression that makes diagnosis difficult, erroneous, and often ...

Peutz-Jeghers syndrome (PJS) is a rare, dominantly inherited disorder characterized by gastrointestinal hamartomatous polyps, mucocutaneous hyperpigmentation, and an increased risk of cancer. We present a 16-month-old child diagnosed with PJS, who had distinguishing features compared with the previously reported cases with respect to her clinical presentation, associated malignancies, and genetic ...

Bannayan-Riley-Ruvacalba syndrome (BRRS) belongs to the PTEN hamartoma tumor syndromes and is characterized by a high risk of malignancy in early adulthood added to local destructive effects of hamartomas in childhood. There is no standard treatment for this condition and patients are usually offered symptomatic surgical relief. Rapamycin has been ...

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by multiple gastrointestinal hamartomatous polyps, mucocutaneous pigmentation and increased predisposition to neoplasms. Endocrine manifestations in PJS include gynecomastia and advanced bone age due to estrogen production by large-cell calcifying Sertoli cell tumors (LSCT). We present two 9-year-old male monozygotic twins, ...

The Immunodeficiency, Centromeric region instability, and Facial anomalies (ICF) syndrome (OMIM #242860) is a rare autosomal recessive disorder caused by defective DNA methylation. Hematological disease and malignancy (macrophage activation syndrome, myelodysplastic syndrome, and Hodgkin lymphoma) have been reported in three patients. To date, there have been no reports of either ...

Silent sinus syndrome is a unique diagnosis characterized by spontaneous enophthalmos and hypoglobus resulting from collapse of the orbital floor secondary to chronic subclinical sinusitis. Although reported in the ophthalmology and otolaryngology literature, there is no mention of silent sinus syndrome in the plastic surgery literature. The authors present a ...

Chondrosarcomas are uncommon tumors of the mediastinum. Cases reported in the literature are chondrosarcomas originating from osteocartilaginous structures; primary chondrosarcomas that have no anatomical relation with cartilaginous structures are rare. They present with myriad symptoms depending on compression of the adjacent structures; but Horner's syndrome, as a symptom, has not ...

A patient with symptoms suggestive of neuroleptic malignant syndrome after levodopa withdrawal is described. The patient presented with persistent high fever, stupor, autonomic dysfunction, rigidity, and rhabdomyolysis. He was successfully treated with intravenous dantrolene, resumption of levodopa, and forced alkaline diuresis. Doctors should be aware of the risk of abrupt ...

Superior mesenteric artery (SMA) syndrome is a rare clinical phenomenon caused by compression of the third portion of the duodenum by the overlying SMA, and can be easily misdiagnosed. We report a case of SMA syndrome treated with laparoscopic duodenojejunostomy omega loop with Braun anastomosis. A 24-year-old women with body ...

There is currently no report that has documented hepatocellular carcinoma (HCC) in a case of Cowden syndrome. Here, we present the first reported case of HCC in a 60-year-old female patient with Cowden syndrome. We diagnosed the patient using a pathognomonic criterion of the International Cowden Consortium Operational Diagnostic Criteria ...

Rituximab has been used over the last decade as a rescue therapy for refractory cases of nephrotic syndrome (NS). Here we report the use of rituximab in four children with idiopathic steroid-resistant nephrotic syndrome (SRNS) with various histological backgrounds (two cases with focal segmental glomerulosclerosis, one case with IgM nephropathy, ...