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Zahiri Hormoz - - 2010
The tip of an excessively long ulnar styloid can impinge upon the triangular fibrocartilage complex (TFCC) against the triquetrum. The subtleties in biomechanics of the wrist joint and their role in the production of the symptoms are presented as five cases from a retrospective study. The relationship of the symptoms ...
Pereira E A C - - 2010
We describe dropped head syndrome in a patient with Parkinson's disease receiving subthalamic nucleus deep brain stimulation (DBS). Posterior occipitocervical instrumented fusion after transarticular screw fixation of an odontoid fracture is shown and its rationale explained. Pedunculopontine nucleus DBS as treatment for fall-predominant Parkinson's disease, and globus pallidus interna DBS ...
Mirastschijski Ursula - - 2010
Abstract Syndromes with focal overgrowth are sporadic diseases and comprise Proteus syndrome and congenital lipomatous overgrowth, vascular malformations, and epidermal naevi (CLOVE) syndrome, and isolated hemihyperplasia. We describe 3 children classified according to standard criteria with dysregulated growth of various tissues that was excised, together with excess toes, and tumours. ...
Puschett J B - - 2010
The bufodienolides are cardiac glycosides which have the ability to inhibit the enzyme, Na(+)/K(+) ATPase (sodium potassium adenosine triphosphatase). They are cardiac inotropes, cause vasoconstriction (and, potentially, hypertension) and are natriuretic. Evidence has accrued over time which supports the view that they are mechanistically involved in volume expansion-mediated hypertension. In ...
Pineda-Alvarez Daniel E - - 2010
Holoprosencephaly (HPE) is the most common structural malformation of the developing forebrain in humans and is typically characterized by different degrees of hemispheric separation that are often accompanied by similarly variable degrees of craniofacial and midline anomalies. HPE is a classic example of a complex genetic trait with "pseudo"-autosomal dominant ...
Harth Wolfgang - - 2010
Facticious Disorders are self inflicted skin lesions and includes the creation of physical or psychiatric symptoms in oneself or other reference persons. In dermatology frequently, there are mechanical injuries by pressures, friction, occlusion, biting, cutting, stabbing, thermal burns or self-inflicted infections with wound-healing impairment, abscesses, mutilations or damages by acids ...
Pruitt Jonathan N - - 2010
Correlations in behavioural traits across time, situation and ecological context (i.e. 'behavioural syndromes' or 'personality') have been documented for a variety of behaviours, and in diverse taxa. Perhaps the most controversial inference from the behavioural syndromes literature is that correlated behaviour may act as an evolutionary constraint and evolutionary change ...
Sandy Macleod A D - - 2010
Post concussion symptoms following mild traumatic brain injury are a difficult clinical state to conceptualise. The constellation of symptoms include those with an organic signature (and presumed organic aetiology), and those with overt psychological features. A seemingly trivial head injury may result in enduring symptoms. The validity of post concussion ...
Elamin M - - 2010
Lyme disease is a multisystem infectious disease, endemic in parts of Europe, including the West of Ireland. Neurological manifestions (neuroborreliosis) are variable. Presenting neurological syndromes include meningitis, cranial neuropathies, myeloradiculitis and mononeuritis multiplex. A lack of specificity in serological diagnosis may add to diagnostic confusion. We reviewed thirty cases of ...
Hall Judith G - - 2010
Diagnosing the specific type of severe intrauterine growth restriction (IUGR) that also has post-birth growth restriction is often difficult. Eight relatively common syndromes are discussed identifying their unique distinguishing features, overlapping features, and those features common to all eight syndromes. Many of these signs take a few years to develop ...
Wales Paul W - - 2010
Pediatric short bowel syndrome (SBS) is most commonly caused by congenital or acquired conditions of the newborn. SBS is associated with an inability of the bowel to adequately absorb water and nutrients in sufficient quantities to meet caloric, fluid, and electrolyte demands, thus necessitating dependence on parenteral nutrition (PN). It ...
Mehta Ishita S - - 2010
HGPS (Hutchinson-Gilford progeria syndrome) is a rare genetic disease affecting children causing them to age and die prematurely. The disease is typically due to a point mutation in the coding sequence for the nuclear intermediate-type filament protein lamin A and gives rise to a dominant-negative splice variant named progerin. Accumulation ...
Kitamura S-I - - 2010
'Soft tunic syndrome' causes mass mortality in the edible ascidian Halocynthia roretzi in Korean and Japanese aquaculture. In histopathological comparison, there were no specific differences between diseased specimens from Korea and Japan, indicating that soft tunic syndrome occurring in Korea and Japan is the same disease. No bacterial or protozoan ...
Heidrich H - - 2010
Raynauds syndrome, acrocyanosis and erythromelalgia are functional vascular diseases that differ with respect to prevalence, clinical picture, therapy, prognosis, and impairment of quality of life. Raynauds syndrome occurs in 5 to 20 % of the population in Europe, is observed four times more often in women than in men and ...
Mehta Parinda - - 2010
The inherited bone marrow failure (BMF) syndromes are characterized by impaired hematopoiesis and cancer predisposition. Most inherited BMF syndromes are also associated with a range of congenital anomalies. Progress in improving the outcomes for children with inherited BMF syndromes has been limited by the rarity of these disorders, as well ...
Sethi Nitin K - - 2010
Patients at times present with neurological symptoms and signs for which at times extensive investigation fails to identify any structural or organic pathology within the nervous system. These pseudo neurological syndromes can mimic almost any organic disease of the central and peripheral nervous system. Some such as pseudo seizures also ...
Tatsch Klaus - - 2010
Extrapyramidal syndromes (ES) belong to the most common neurologic illnesses. Because new and promising therapeutic options are currently under development, there is a substantial demand for molecular imaging procedures with the potential to identify the pathologic changes of those illnesses. This article gives an overview of the current positron emission ...
Heimall Jennifer - - 2010
Hyper IgE syndrome (HIES) is a rare primary immunodeficiency characterized by the triad of elevated IgE and eosinophilia, eczema, and recurrent skin and pulmonary infections. The autosomal dominant (AD) form of HIES results from mutations in STAT3 and is characterized by disordered inflammation, connective tissue, and skeletal abnormalities. Tissue-specific STAT3 ...
Ridout A E - - 2010
Overactive bladder syndrome is defined as a symptom syndrome which includes urinary urgency, with or without urge incontinence, usually accompanied by frequency (>8 micturitions/24 h) and nocturia. Conservative treatment usually comprises behavioural techniques, bladder retraining, pelvic floor re-education and pharmacotherapy but up to 30% of patients will remain refractory to ...
Yeung Sam C M - - 2010
Acute exacerbations of asthma are common in children, but limb weakness after such exacerbations is very unusual. Hopkins' syndrome, a poliomyelitis-like illness associated with asthma, is seldom reported in the literature. We describe a child with weakness of the lower limbs after an asthmatic attack. The clinical profile, possible pathogenesis, ...
Ayoob Ashley L - - 2010
To review and summarize current information regarding epidemiology, pathogenesis, and pathophysiology leading to the various clinical syndromes associated with canine babesiosis. Diagnosis, treatment, preventative strategies, and zoonotic implications are discussed. Babesiosis is caused by hemoprotozoa of the genus Babesia. Numerous species of Babesia exist worldwide. An increased incidence of babesiosis ...
Brauer H U - - 2010
Supernumerary teeth are an infrequent developmental alteration that can appear in any area of the dental arches and which are often associated with several syndromes such as cleidocranial dysplasia or Gardner syndrome. Multiple supernumerary teeth in individuals with no other associated diseases or syndromes are very uncommon. A 14-year-old male ...
Piper Amanda - - 2010
Obesity hypoventilation syndrome occurs in obese individuals who are unable to compensate for the added load of obesity on the respiratory system, with resultant daytime hypercapnia in the absence of other causes of alveolar hypoventilation. Significant morbidity and mortality is seen in this disorder if appropriate treatment is not undertaken. ...
Weiss Curtis H - - 2010
It is estimated that, combined, 400,000 people are diagnosed with idiopathic pulmonary fibrosis (IPF) or acute lung injury/acute respiratory distress syndrome annually in the United States, and both diseases are associated with an unacceptably high mortality rate. Although these disorders are distinct clinical entities, they share pathogenic mechanisms that may ...
Lindsey Pamela L - - 2010
Rabbit syndrome (RS) is an involuntary movement disorder characterized by rapid, fine movements of an individual's mouth, similar to the chewing movements of a rabbit, and has most frequently been associated with the use of antipsychotic medications. RS is often unrecognized or misdiagnosed as tardive dyskinesia or pseudoparkinsonism. Although rare, ...
Fernandes Neil F - - 2010
X-linked ichthyosis (XLI) is an X-linked recessive disorder of cutaneous keratinization with possible extracutaneous manifestations. It was first described as a distinct type of ichthyosis in 1965. XLI is caused by a deficiency in steroid sulfatase activity, which results in abnormal desquamation and a retention hyperkeratosis. XLI is usually evident ...
Hughes John R - - 2010
The goal of this article is to review Savant Syndrome, characterized by outstanding islands of mental ability in otherwise handicapped individuals. Two forms exist: the congenital form and the acquired form. Among the many examples of the congenital form are the calendar calculators, who can quickly provide the day of ...
Soyucen Erdogan - - 2010
Benign joint hypermobility syndrome (BJHS) is a hereditable disorder of connective tissue, which is characterized by the occurrence of multiple musculoskeletal problems in hypermobile individuals who do not have a systemic rheumatological disease. Rectal, uterine and mitral prolapses, varicose veins, myopia and recurrent urinary tract infections are more common in ...
Gupta Vineeta - - 2010
Dyskeratosis congenita (DC) is an inheritable bone marrow failure syndrome characterized by reticulated hyperpigmentation, dystrophic nails and oral leukoplakia. Another name for the condition is Zinsser-Cole-Engman syndrome. Hematologic manifestations usually do not appear in childhood but later in early adulthood. Patients are also prone to carcinomas, particularly of the head ...
Lu-Emerson Christine - - 2010
Hypoxic-ischemic brain injury (HI-BI) after cardiac arrest commonly results in neurological injury and long term dysfunction, with outcomes ranging from coma and vegetative states to functional disability with various degrees of dependence. Increased rates of bystander CPR and cardiac defibrillation has led to a rapid increase in successful resuscitations. Patients ...
Peeters M - - 2010
This paper reviews the research that has been conducted into the use of Sandostatin to control the debilitating symptoms of diarrhea in a number of different etiologies. These are cancer-related diarrheas, including diarrhea related to chemotherapy, radiotherapy, neuroendocrine tumor carcinoid syndrome, vasoactive intestinal peptide-secreting tumors and also non-cancer related diarrhea, ...
Lin Haotian - - 2010
A 3-year-old girl was diagnosed as having linear nevus sebaceous syndrome. The nevus sebaceous was located on the left side of the face and neck. An unusually large lacrimal gland was completely ectopic below the entire left conjunctiva, with secondary ectropion of the left upper eyelid. The patient had the ...
Shankland Wesley E WE - - 2010
It is not uncommon for practitioners who treat craniofacial pain to see patients with undiagnosed throat and submandibular pain. Usually, these patients will already have been seen by their primary care physician and frequently, several others doctors including otolaryngologists, oral and maxillofacial surgeons, and even neurologists. Far too often these ...
Tatsch Klaus - - 2010
Parkinson's disease (PD) and atypical Parkinsonian syndromes (aPS) belong to the most common neurologic illnesses. Diagnosis and differential diagnosis of these syndromes is primarily based on well-defined clinical criteria, however, may be difficult in early and particular preclinical/premotor stages. Molecular imaging with PET offers here a broad variety of tools ...
Zarchi Omer - - 2010
Williams syndrome is a neurodevelopmental disorder caused by a deletion on chromosome 7. It is characterized by a range of medical problems in addition to severe impairments in visuospatial processing and oversensitivity to sounds, including hypersensitivity to sounds (hyperacusis) and extreme fear from sounds (phonophobia). In spite of impairments in ...
Cuvellier Jean-Christophe - - 2010
This review focuses on so-called "periodic syndromes of childhood that are precursors to migraine," as included in the second edition of the International Classification of Headache Disorders. Presentation is characterized by an episodic pattern and intervals of complete health. Benign paroxysmal torticollis is characterized by recurrent episodes of head tilt, ...
Pavone Lorenzo - - 2010
Lissencephaly has been long maintained a malformation involving only the brain. Classic lissencephaly includes agyria and pachygyria and it is the most severe form of malformations derived from abnormal neuronal migration. It is defined as a smooth or nearly smooth cerebral surface with absence of normal sulci and gyria. It ...
Rigante D - - 2010
Systemic autoinflammatory syndromes are a group of inherited and acquired disorders of the innate immunity characterized by recurrence of seemingly unprovoked febrile attacks of variable duration and multi-district inflammation of different severity. The vast majority of these conditions when observed in pediatrics is caused by mutations in genetic systems involved ...
Jankowska Ewa A - - 2010
The clinical syndrome of heart failure is hugely heterogeneous. In this chapter, the authors discuss several distinct classifications of this syndrome that have been developed in order to better characterize an individual case and subsequently apply an optimal management. Classifications are based on the time course of the clinical presentation ...
Leong Randall K - - 2010
The overactive bladder syndrome (OAB) negatively affects the daily life of many people. Conservative treatments, such as antimuscarinics, do not always lead to sufficient improvement of the complaints and/or are often associated with considerable side effects resulting in treatment failure. In the case of failure or intolerable side effects, sacral ...
Deane Sean - - 2010
Macrophage activation syndrome (MAS) is a phenomenon characterized by cytopenia, organ dysfunction, and coagulopathy associated with an inappropriate activation of macrophages. Current diagnostic criteria are imprecise, but the syndrome is now recognized as a form of hemophagocytic lymphohistiocytosis that is characteristically associated with autoimmune diatheses. The diagnosis of incipient MAS ...
Bagshaw Sean M - - 2010
BACKGROUND/AIMS: Acute heart failure (HF) and acute kidney injury (AKI) are common. These syndromes are each associated with considerable morbidity, mortality, and health resource utilization and are increasingly encountered. Fluid accumulation and overload are common themes in the pathophysiology and clinical course of both HF and AKI. METHODS: This narrative ...
Steinberg Tamar - - 2010
The object of this review is to summarize some of the recent developments in the understanding of Tourette's Syndrome which can be regarded as the prototype of a developmental psychopathological entity. The review covers the following topics: tics and their developmental course; sensory phenomena related to tics including measurement of ...
Macedo Etienne - - 2010
Prerenal failure is used to designate a reversible form of acute renal dysfunction. However, the terminology encompasses different conditions that vary considerably. The Acute Kidney Injury Network group has recently standardized the acute kidney injury (AKI) definition and classification system; however, these criteria have not determined specific diagnostic criteria to ...
Ghazali S M - - 2010
Metabolic syndrome is the commonest controllable precursor of cardiovascular and end stage renal diseases. While central obesity is recognized universally as its strongest component, there is the need for an accurate and affordable tool to screen for the presence of metabolic syndrome in every community. The easiest and cheapest measures ...
Jotwani Vijay - - 2010
Postconcussion syndrome (PCS) is a constellation of physical, cognitive, and emotional symptoms that persist in a small percentage of patients who suffer from a concussion. There is significant debate regarding the definition and pathophysiology of PCS. This article reviews these controversies, the factors that may predict PCS, potential diagnostic and ...
Eddy Clare M - - 2010
Core symptoms of Tourette's syndrome are assumed to result from inhibitory dysfunction, which could also impair theory of mind. Here the authors report evidence for theory of minddifficulties: patients exhibit deficits in recognizing faux pas and understanding intentionality.
Kim Jenny J - - 2010
Von Hippel-Lindau syndrome (VHLS) is an autosomal dominant familial cancer syndrome arising from germ-line inactivation of the VHL gene on the short arm of chromosome 3. VHLS manifests in a myriad of hyper-vascular tumors of both benign and malignant nature. Incidence of VHLS is roughly 1 in 36,000 live births ...
Valenti A - - 2010
Patients with cirrhosis or portal hypertension may develop hepatopulmonary syndrome (HPS) and portopulmonary hypertension (PPHT). HPS occurs in 25% of the subjects with cronic hepatopathy waiting for a liver transplantation. HPS is characterized by cronic hepatopathy and/or portal hypertension, increased P(A-a)O2 gradient (more than 20 mmHg) with hypoxemia and intrapulmonary ...
Agrawal Sanwar - - 2010
A 12-year-old girl presented with significant vomiting, and generalised muscular weakness. She had normal anion gap metabolic acidosis, hypokalemia and alkaline urine. Vomiting generally leads to metabolic alkalosis but this patient had acidosis which suggested either renal tubular acidosis (RTA) or diarrhoea. Investigations showed distal RTA. There was no family ...
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