OTHER THEMES PUBLISHED IN THIS IMMUNOLOGY IN THE CLINIC REVIEW SERIES Allergy, Host Responses, Cancer, Type 1 diabetes and viruses, Metabolic diseases. SUMMARY: Autoinflammatory syndromes are disorders characterized by the hyperactivation of the innate immune system in the absence of microbial infection or autoantibody production. Some autoinflammatory syndromes are associated ...

Postural tachycardia syndrome (POTS) is a form of orthostatic intolerance characterized by a marked increase in heart rate within the first 10 min of head-up tilt (HUT). We present a patient whose enlarged inferior vena cava that appears to be a contributing mechanism to her POTS and presyncopal symptoms.

AIM: The aim of this study was to determine the prevalence of erectile dysfunction (ED), testosterone deficiency syndrome (TDS), and metabolic syndrome in patients with abdominal obesity (AO) and the prevalence of morbidity at different levels of testosterone (TST). BACKGROUND: Male sex hormones play an important role in ED and ...

Most findings on associations of physical activity and sedentary behavior with the metabolic syndrome are from developed countries; thus, we examined these relationships in adults from Sur, Oman. The Sur Healthy Lifestyle Survey (n = 1335) used the WHO Stepwise methodology to assess chronic disease risk factors. Odds ratios for ...

Background. Current World Health Organization classification of myelodysplastic syndromes is based on morphological evaluation of marrow dysplasia. In clinical practice, the reproducibility for recognition of dysplasia is usually poor especially in cases that lack specific markers such as ring sideroblasts and clonal cytogenetic abnormalities. Design and Methods. We aimed to ...

OBJECTIVES/HYPOTHESIS: CHARGE (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and/or deafness) syndrome is a genetic disorder with prominent otolaryngologic features including choanal atresia and inner ear malformations. Recent experience with venous malformations during cochlear implant ...

The American Journal of Medical Genetics Part A is to be congratulated for taking a leadership role by publishing a number of papers challenging the status quo of prenatal counseling for Down syndrome and of care for children and adults with Down syndrome. Parents want to know about the future ...

Periventricular heterotopia (PH), clumps of neurons mislocated beside the ventricle, is caused by failure to initiate migration during embryogenesis. We report on a 32-month-old Japanese girl with a unique subtype of PH, namely ribbon-like PH. The patient presented with severe psychomotor developmental delay, intractable epilepsy, and congenital cataracts and developed ...

Study Type - Symptom prevalence (case control) Level of Evidence 3a What's known on the subject? and What does the study add? In recent years, a number of studies have reported a high prevalence of erectile dysfunction (ED) among patients with chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS). Several studies have reported ...

This report describes a teenager found to have both Addision's disease and long-QT syndrome type 1. This association is unique, but congenital long-QT channelopathies have been associated with other endocrinopathies. It remains to be seen whether genetic investigation should be performed for all patients with long-QTc's and endocrinopathies.

ABSTRACT: INTRODUCTION: A perforation occurring during colonoscopy is an extremely rare complication that may be difficult to diagnose. It can be responsible for acute abdominal compartment syndrome, a potentially lethal complex pathological state in which an acute increase in intraabdominal pressure may provoke the failure of several organ systems. CASE ...

We report a unique case of synchronous functional adrenocortical adenoma and an incidental myelolipoma within ectopic cortical adrenal tissue located in the renal hilum in a child with Beckwith-Wiedemann syndrome and review the association between adrenal gland disorders and myelolipomas. To the best of our knowledge, this is the first ...

Objective: To examine whether the use of a shoulder joint functional orthosis over four weeks can mitigate the development or progression of the shoulder-hand syndrome in patients with shoulder joint subluxation after stroke.Design: Two-armed randomized controlled trial.Setting: Rehabilitation unit of a neurological hospital, single centre.Subjects: Forty-one patients with caudal subluxation ...

BACKGROUND: The distribution of cardiovascular risk factors in patients with chronic gastrointestinal ischemia due to atherosclerosis of the splanchnic vessels (chronic splanchnic syndrome) is not well studied. The aim of this study was to determine the cardiovascular risk factor pattern in patients with chronic splanchnic syndrome. METHODS: From April 2003 ...

In this study, we present the case of a 2-year-old boy who exhibited facial and bulbar paralysis since birth, severe dysphagia, signs of oculomotor disturbance, jaw jerks, pyramidal signs on both toes, intellectual disability, and severe gastroesophageal reflux. His blink reflex and auditory/somatosensory evoked potentials suggested abnormalities in the lower ...

Abdominal compartment syndrome (ACS) is defined as an organ dysfunction caused by intra-abdominal hypertension (IAH). Up to 4.2% of the patients in intensive care unit may develop IAH with it being an independent predictor of mortality. However, overall, it still remains a relatively underdiagnosed condition, part in because physical examination ...

BACKGROUND: Hyperparathyroidism-jaw tumor (HPT-JT) syndrome is a rare autosomal dominant multiple tumor syndrome characterized by hyperparathyroidism due to single or multiple-gland parathyroid tumor(s). Since it was first described in 1990, the genetics underlying the syndrome have been elucidated and typical clinical presentations are becoming clarified as literature describing this rare ...

INTRODUCTION AND OBJECTIVES: To update the prevalence of metabolic syndrome and associated coronary risk in Spain, using the harmonized definition and the new World Health Organization proposal (metabolic premorbid syndrome), which excludes diabetes mellitus and cardiovascular disease. METHODS: Individual data pooled analysis study of 24 670 individuals from 10 autonomous ...

To determine the perioperative considerations for low-risk and high-risk surgery in patients with Gitelman syndrome. Retrospective chart review. University-affiliated medical center. 42 patients with Gitelman syndrome. Of the 42 patients with Gitelman syndrome, 5 underwent procedures requiring anesthesia: mastectomy, spinal fusion, thyroidectomy, tonsillectomy, and bronchoscopy. The anesthesia record and all ...

Propofol is widely used for sedating critically ill adult patients because of its rapid onset and short recovery times, even after prolonged use. Propofol may be associated with a life-threatening syndrome, propofol-related infusion syndrome (PRIS), which includes cardiac failure, severe metabolic acidosis, renal failure, and rhabodomyolysis. The pathophysiology is incompletely ...

Patients with neuro-ophthalmologic findings and diseases commonly present in the emergency room. This article reviews the approach to acute visual loss, the abnormal optic disc, double vision, and the neuro-ophthalmologic signs of neurologic emergencies, including hydrocephalus, herniation syndromes, vascular lesions, and trauma.

The 17q21.31 microdeletion syndrome is characterised by intellectual disability, epilepsy, distinctive facial dysmorphism, and congenital anomalies. To date, all individuals reported with this syndrome have been simplex patients, resulting from de novo deletions. Here, we report sibling recurrence of the 17q21.31 microdeletion syndrome in two independent families. In both families, ...

Intra-abdominal hypertension has a prevalence of at least 50% in the critically ill population and has been identified as an independent risk factor for death. Yet, many of the members of the critical care team do not assess for intra-abdominal hypertension and are unaware of the consequences of untreated intra-abdominal ...

Chiari malformation Type I (CM-I) is associated with syndromic and nonsyndromic craniosynostosis in pediatric patients, and the surgical management of CM-I in such cases is controversial. Previous guidelines have recommended simultaneous cranial vault expansion and suboccipital decompression. However, spontaneous resolution of CM-I has been observed, and the combined procedure carries ...

Objective: Investigating the impact of Angelman syndrome on the sibling relationship. Methods: This study explored differences in sibling relationships between children with a typically-developing sibling (n = 55) and children with a sibling with Angelman syndrome (n = 44). Sibling relationships were compared on four factors and 16 sub-scales of the Sibling Relationship Questionnaire-Revised. ...

Refeeding syndrome has been observed in patients receiving nutrition after a prolonged period of malnourishment and is characterized by multiple metabolic derangements. Besides hypophosphatemia and hypoglycemia, lipemia has been described in association with parenteral nutrition administration to the malnourished. The authors describe one anorexic patient who developed lipemia during oral ...

BACKGROUND: Marfan syndrome is a heritable connective tissue disease. Definitive diagnosis is complex, and requires sequencing of a large gene, FBN1. AIM: We aimed to develop a simple model to estimate the pre-test probability of Marfan syndrome. DESIGN: Prospective cross-sectional study. METHODS: We applied diagnostic standards for definitive diagnosis or ...

Nutrition support clinicians refer to the abnormalities in laboratory data and changes in clinical signs and symptoms that follow refeeding of starved or malnourished patients as refeeding syndrome. Theoretical descriptions of refeeding syndrome include a complex and extensive list of changes, such as hypophosphatemia, hypomagnesemia, hypokalemia, hyponatremia, hypocalcemia, hyperglycemia, and ...

Posterior reversible encephalopathy syndrome (PRES) is a recently described disorder with typical radiological findings of bilateral gray and white matter abnormalities in the posterior regions of the cerebral hemispheres and cerebellum. Its clinical symptoms include headache, decreased alertness, mental abnormalities such as confusion, diminished spontaneity of speech, and changed behavior ...

Patients with nephrotic syndrome are at risk of developing thrombosis in both veins and arteries. Various manifestations in different organs have been reported. Thrombi in heart seen, associated with multiorgan thrombosis have been reported on autopsy earlier, but only once in a living patient with nephrotic syndrome. Here, we report ...

ABSTRACT: Dorsal midbrain syndrome (DMS) is a recognized clinical manifestation of increased intracranial pressure (ICP) associated with ventricular enlargement, especially in shunt malfunction, but the mechanism by which DMS occurs in this setting is unsettled. We report a patient with triventriculomegaly attributed to aqueductal narrowing by a tectal mass who ...

Most patients with myelodysplastic syndromes (MDS) require transfusions due to chronic anemia. Apart from the acute risks associated with transfusions, chronic anemia and red blood cell (RBC) transfusion dependence impact negatively on survival and quality of life (QoL), and are associated with iron overload, potentially leading to organ damage. QoL ...

The Klippel-Feil syndrome is a congenital anomaly characterized by fusion of the cervical vertebrae. It is often associated with serious congenital anomalies of the nervous, cardiovascular and urogenital systems. One of the anomalies which have not been thoroughly investigated to date are that accompanying Klippel-Feil syndrome and enlarged Eustachian tube. ...

We report a female patient with situs inversus, dextrocardia, a complex heart malformation, hydrocephalus due to aqueductal stenosis, and abnormal ultrastructure of the respiratory epithelium cilia. Several animal models of this disorder implicate abnormal ciliary function in the genesis of hydrocephalus, and 11 patients were previously reported with hydrocephalus and ...

Rett syndrome is characterized by loss of motor and social functions, development of stereotypic hand movements, seizures, and breathing disturbances. This study evaluates the presence of overnight respiratory disturbances. Polysomnography in combination with a questionnaire (the Sleep Disturbance Scale for Children) was performed in 12 Dutch patients with Rett. Respiratory ...

Intraventricular hemorrhage is a rare finding in patients with the posterior reversible encephalopathy syndrome and generally carries a poor prognosis. We report a unique case of an 18-year-old girl with glomerulonephritis who developed posterior reversible encephalopathy syndrome without hypertension but with a primary intraventricular hemorrhage and subarachnoid blood without demonstrable ...

Objective.- The present study was designed to discern the prevalence of concomitant use of a 5-hydroxytryptamine receptor agonist (triptan), and a selective serotonin reuptake inhibitor (SSRI) or a selective serotonin/norepinephrine reuptake inhibitor (SNRI) after the US Food and Drug Administration issued an alert regarding serotonin syndrome in 2006 and to ...

ABSTRACT: BACKGROUND: Interstitial Microdeletion and Microduplication syndromes have been proposed as a significant cause of sporadic intellectual disability (ID) but the role of such aberrations in familial ID has not yet been investigated. As the balanced chromosomal abnormalities commonly lead to the recurrent ID or multiple congenital anomalies, this study ...

We aim to review the clinical features of two renal tubular disorders characterized by sodium and potassium wasting: Bartter syndrome and Gitelman syndrome. Selected key references concerning these syndromes were analyzed, together with a PubMed search of the literature from 2000 to 2011. The clinical features common to both conditions ...

Abstract Background: The aim of this study was to determine the prevalence of sleep-disordered breathing (SDB) in a South Asian and a Caucasian population and to compare the cardiovascular risk factors in those with SDB within these ethnic groups and determine if SDB is independently associated with the metabolic syndrome ...

Dear Editor, We read with great interest the contribution by Monzón et al.1 They reported a significant case of a man who had Guillain-Barré syndrome (GBS) with syndrome of inappropriate antidiuretic hormone (SIADH) and speculated that increased sensitivity to vasopressin in the renal tubule and a long-lasting hypo-osmolarity or antidiuretic ...

We report a case of locally advanced excavated non-small cell lung cancer with superior vena cava (SVC) syndrome that underwent four cycles of induction chemotherapy. Due to early treatment failure and the impossibility applying radical radiotherapy, a decision was made to perform surgery. The patient underwent right intrapericardial pneumonectomy with ...

OBJECTIVE:: We report a case of a patient with Klinefelter syndrome and glaucoma. CASE PRESENTATION:: A 30-year-old patient with karyotype 47, XXY, presented with a known medical history of glaucoma. Besides reduced fertility, no characteristic physical or behavioral symptoms for Klinefelter syndrome were found on clinical examination. While both eyes ...

Orofaciodigital syndrome is a very rare entity with X-linked dominant inheritance characterized by oral, facial, and digital anomalies. Thirteen different types have been described in the literature to date. Of these, orofaciodigital syndrome type I has the highest incidence. Renal and central nervous system malformations may accompany the oral, facial, ...

Recurrence of the Takotsubo syndrome is possible, and in the majority of cases it occurs within 4 years. The present report is focused on a case of the Takotsubo syndrome recurrence after 10 years. The patient had been admitted for the first time in 1999 with a diagnosis of "non-q ...

Williams-Campbell syndrome, also known as bronchomalacia, is a rare disorder characterized by a deficiency of cartilage in subsegmental bronchi, leading to distal airway collapse and bronchiectasis. There have been few reports about patients affected by saccular bronchiectasis, paracicatricial emphysema, and diminished cartilage. These are all characteristic of Williams-Campbell syndrome. This ...

The first description of patients with clustering of various metabolic abnormalities was as early as 1923 but it was more than five decades later, in 1988, that Reaven coined the term 'syndrome X' for this entity. The last two decades have brought forth a number of definitions and criteria to ...

We reported a case of a 41-year-old woman who had been diagnosed with Gitelman's syndrome since the age of 31 years. The diagnosis was established by the typical biochemical pictures including renal wasting hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis, and hyperreninemic hyperaldosteronism. She had normal blood pressure and had never used ...

Median arcuate ligament (MAL) syndrome, also known as the celiac axis compression syndrome, is rare. It is a diagnosis of exclusion, characterised by the clinical triad of postprandial abdominal pain, weight loss and vomiting. Computed tomographic angiography is the gold standard for making the diagnosis of MAL and colour Doppler ...

The relationships between erythropoietin (EPO), iron, and erythropoiesis and the presence of iron-restricted erythropoiesis have important implications in anemia management. Iron-restricted erythropoiesis occurs in the presence of one or more iron deficiency syndromes: absolute iron deficiency, functional iron deficiency, and/or iron sequestration. Absolute iron deficiency is a common nutritional deficiency ...