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Guidi Sandra S 1 Department of Biomedical and Neuromotor Sciences, University of Bologna, - - 2013
Intellectual impairment is a strongly disabling feature of Down's syndrome, a genetic disorder of high prevalence (1 in 700-1000 live births) caused by trisomy of chromosome 21. Accumulating evidence shows that widespread neurogenesis impairment is a major determinant of abnormal brain development and, hence, of intellectual disability in Down's syndrome. ...
Peyer Anne-Kathrin - - 2013
Slow channel congenital myasthenic syndrome is caused by a genetically determined kinetic anomaly of the acetylcholine receptor at the neuromuscular junction leading to its prolonged open state. Patients typically present with fatigability and static weakness of neck, hand and finger extensors. The open-channel blockers fluoxetine and quinidine have been used ...
Finlayson Sarah S Neuroscience Group, Weatherall Institute of Molecular Medicine, The John Radcliffe Hospital, Headington, Oxford OX3 9DS, - - 2013
Slow channel congenital myasthenic syndrome is a dominant disorder characterized by prolonged acetylcholine receptor ion-channel activation. Molecular genetic techniques, electrophysiology, and binding studies in human embryonic kidney (HEK) 293 cells determined mutant function and expression levels. Patient response to treatment was measured by quantitative myasthenic gravis and Medical Research Council ...
De Raet Jan M - - 2012
The superior vena cava syndrome encompasses a constellation of symptoms and signs resulting from obstruction of the superior vena cava. We report a successful surgical management after failed endovascular stenting for superior vena cava syndrome, caused by a postradiation fibrosis after conventional radiotherapy for breast cancer. We emphasize the rarity ...
Ponnapula Sundararajan Priya - - 2012
Posterior ankle impingement syndrome can result from chronic overuse or acute trauma. When coupled with the presence of an anatomic bony anomaly, the patient can present with significant pain with maximal plantarflexion. Treatment involves resection of the site of bony impingement (e.g., os trigonum or fractured Steida's process) and circumferential ...
Kraigher A - - 2012
Haemorrhagic fever with renal syndrome is endemic in parts of Slovenia. Since 1999, in January to April each year, the number of notified cases has generally been low (n=0-6). A high number of cases (n=26) in the first four months of 2012 has been observed, similar to that seen in ...
Moreira-Silva Sandra Fagundes - - 2012
Acute cor pulmonale is a clinical syndrome with signs of right-sided heart failure resulting from sudden increase of pulmonary vascular resistance. A five-year-old male, infected by human immunodeficiency virus (HIV), was admitted at the division of infectious diseases of this hospital with cough, tachydyspnea, fever, and breathing difficulty. Computed tomography ...
Hayes Jr Don - - 2012
Hayes D Jr, Mansour HM. Vanishing bronchus intermedius syndrome in a pediatric patient with cystic fibrosis after lung transplantation. Abstract:  Airway complications occur frequently after lung transplantation. Bronchial stenosis is the most frequently encountered complication with the most severe form of that being the vanishing bronchus intermedius syndrome (VBIS). This ...
Sovtić Aleksandar - - 2012
Infants with cystic fibrosis may fail to thrive despite recommended caloric intake because of electrolyte disurbances caused by salt depletion resulting in hypochloremic metabolic alkalosis or pseudo-Bartter's syndrome. In most patients reported symptoms began in infancy, but it may be an initial presentation of disease in a previously healthy adolescent. ...
Kashtan Clifford E - - 2012
We present clinical practice recommendations for the treatment of children with Alport syndrome who are not enrolled in clinical trials. Our goal is to promote early initiation of a standard therapeutic approach that will facilitate assessment of the safety and efficacy of the protocol. The treatment protocol is based on ...
Madhwal Surabhi - - 2012
Idiopathic hypereosinophilic syndrome (HES) is a rare multisystem condition characterized by dysregulated overproduction of eosinophils. Cardiac involvement in HES is characterized by necrosis from infiltration of eosinophils and thrombus formation and, in the late stage, by fibrosis and chronic valvular regurgitation. We report a very unusual presentation of idiopathic HES ...
Raman Siva P - - 2012
OBJECTIVE: This article reviews the causes, clinical presentation, and CT diagnosis of superior mesenteric artery (SMA) syndrome. CONCLUSION: In conjunction with an appropriate clinical history, several CT findings can suggest the diagnosis of SMA syndrome. These findings include narrowing of the aortomesenteric angle and distance, distension of the stomach and ...
Janati A Bruce - - 2012
A 32-year-old female, with a history of secondarily-generalized convulsive epilepsy, mental retardation, and a psychiatric illness, developed neuroleptic malignant syndrome while receiving carbamazepine and amitriptyline concurrently. We hypothesize that the addition of amitriptyline to carbamazepine caused a decrease in the serum level of carbamazepine, resulting in NMS. We conclude that ...
Sinagra Emanuele - - 2012
Superior mesenteric artery (SMA) syndrome is an infrequent cause of vomiting and weight loss due to compression of the third part of the duodenum by the SMA. We describe the case of a 17-year-old woman, admitted to our department for progressive dysphagia and severe weight loss due to an oesophageal ...
Seretis Charalampos - - 2012
Esophageal sclerosis is the most common visceral manifestation of systemic sclerosis, resulting in impaired esophageal clearance and retention of ingested food; in addition, co-existence of lung fibrosis with esophageal scleroderma is not uncommon. Both the progression of generalized connective tissue disorders and the damaging effect of chronic aspiration due to ...
Piccoli Giorgina Barbara - - 2012
MELAS syndrome (MIM ID#540000), an acronym for Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes, is a genetically heterogeneous mitochondrial disorder with protean manifestations and occasional kidney involvement. Interest in the latter is rising due to the identification of cases with predominant kidney involvement and to the hypothesis of a link ...
Oliva I B - - 2011
Chronic obstructive pulmonary disease (that includes emphysema) results in significant morbidity and mortality worldwide. Idiopathic pulmonary fibrosis (IPF) is also a chronic and progressive parenchymal lung disease with an average survival of less than 5 years after diagnosis. Combined pulmonary fibrosis and emphysema (CPFE) is an important but still underdiagnosed ...
McDowell Susan A - - 2011
Although blood maintains a fluid state under physiologic conditions, clot formation is an immediate response to injury. The immediacy of the response is accomplished by the continuous circulation of hemostatic factors as zymogens, inactive precursors, and by the sequestration of active factors by the vessel wall, accessible only when vascular ...
Hedelius Richard - - 2011
A 34-year-old Nigerian man presented with nephrotic syndrome. Renal biopsy revealed chronic membranous glomerulopathy with focal segmental sclerosis. Blood Giemsa smear contained rare Plasmodium sp. trophozoites and small subunit ribosomal RNA polymerase chain reaction amplification confirmed the presence of Plasmodium malariae. This case highlights the importance of obtaining even remote ...
Sanghi S - - 2011
Immune reconstitution inflammatory syndrome (IRIS) is a paradoxical deterioration in the clinical status of a patient infected with human immunodeficiency virus (HIV) on highly active antiretroviral treatment (HAART). The immune suppression caused by the virus can initially suppress the clinical manifestations of leprosy which can then be unmasked after treatment ...
Ford Rebecca L - - 2011
Purpose. Intraoperative floppy iris syndrome (IFIS) has been strongly associated with intake of selective a1 adrenergic blockers, particularly tamsulosin. Intraoperative floppy iris syndrome has also been linked to the use of other drugs with some a antagonist activity. Methods. We identified patients on long-term treatment with the antipsychotic agent risperidone ...
Liu Lance - - 2011
To visualize the changes of the iris contour in patients with pigment dispersion syndrome after blinking, accommodation, and pharmacologic miosis using anterior segment optical coherence tomography. Observational case series. A total of 33 eyes of 20 patients with pigment dispersion syndrome. Each eye was imaged along the horizontal 0- to ...
Radovic Milan - - 2011
The origin of Chronic airflow obstruction (CAO) syndrome in active Tuberculosis (TB), despite significant similarities with chronic obstructive pulmonary disease (COPD), still remains unknown. The aim of the study was to examine the potential causes and risks for the development of CAO syndrome in new cases of pulmonary TB. Prospective, ...
Boyle Tonya E - - 2011
Three cats were evaluated at a veterinary teaching hospital for congestive heart failure (CHF) secondary to hyperviscosity syndrome from plasma cell neoplasia. All cats had severe hyperproteinemia due to hyperglobulinemia. Multiple myeloma or plasma cell neoplasia was diagnosed based on cytopathology and post mortem examination. The cats presented with signs ...
Pizent A - - 2010
To examine whether concentrations of several trace elements and activities of several antioxidant enzymes are modified in metabolic syndrome, and to evaluate their possible association with metabolic syndrome components. Additionally, concentration of CRP, as a marker of inflammation, was measured. Cross-sectional study. The study group consisted of 100 subjects, aged ...
Curtin Jeremy - - 2010
The case presented is that of a 22-year-old male with Wolf-Hirschhorn syndrome who was referred with glaucoma refractory to medical treatment. Six other patients have been described with Wolf-Hirschhorn syndrome (WHS) and glaucoma, most being congenital glaucoma with diagnosis in infancy. We describe the first case of juvenile onset glaucoma ...
Erdogan M - - 2011
One of the common features of hypothyroidism is weight gain or failure to lose weight. Bradycardia and mild hypertension can be seen as well. Impact of thyroid hormone deficiency on glucose and insulin metabolism is not fully understood. Thyroid hormones play a role in lipid synthesis, metabolism and mobilization. Metabolic ...
Zenkel Matthias - - 2010
Pseudoexfoliation (PEX) syndrome, which is an age-related, generalized elastotic matrix process, currently represents the most common identifiable risk factor for open-angle glaucoma. Dysregulated expression of proinflammatory cytokines has been implicated in the initiation of various fibrotic disorders and in the pathophysiology of glaucoma. Here we investigated the presence, expression, regulation, ...
Jun Eun Jung - - 2010
We report a case of toxic anterior segment syndrome (TASS) that developed after cataract surgery. A 78-year-old woman had uneventful phacoemulsification via a clear corneal incision with implantation of an acrylic intraocular lens. One day postoperatively, diffuse corneal edema and anterior chamber inflammation were evident. Topical antibiotic and steroid eyedrops ...
Belovay Graham W - - 2010
PURPOSE OF REVIEW: To discuss the preoperative, intraoperative and postoperative considerations and techniques for cataract surgery in pseudoexfoliation syndrome. RECENT FINDINGS: Pseudoexfoliation syndrome is a common disorder worldwide that has been linked to the lysyl oxidase-like-one (LOXL1) gene. Its identification in patients undergoing cataract surgery has become important in preventing ...
Culp William - - 2010
Bacterial septic peritonitis is a serious condition that requires immediate treatment. The pathogenesis is complex, and the list of diagnostic differentials is extensive. The keys to successful treatment are early recognition of the condition and elimination of the causative organism. Multiple options for draining the peritoneal cavity exist, and further ...
Osher Robert H - - 2010
We describe the case of a 78-year-old highly myopic woman who had bilateral phacoemulsification with posterior chamber intraocular lens implantation. During surgery, the anterior chamber was extremely deep and the pupil was excessively dilated, consistent with lens-iris diaphragm retropulsion syndrome (LIDRS). Subsequent biomicroscopy revealed multifocal iris sphincter ruptures, a new ...
Jaru-Ampornpan Pimkwan - - 2010
Ocular abnormalities are common in Patau syndrome (trisomy 13), but only a few cases with congenital glaucoma have been reported, some of which were associated with other ocular defects. This report describes a case of primary congenital glaucoma in an 11-year-old patient with full trisomy 13.
Dun Xiao-Yi - - 2009
POEMS syndrome, also known as Crow-Fukase syndrome, represents a rare multisystem syndrome characterized by polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes. Hypothyroidism is one of the common endocrine abnormalities which are central features of POEMS syndrome. The clinical data associated with the measurement of thyroid function and its clinical ...
Tint Naing L - - 2009
Tamsulosin is an alpha(1)-adrenergic antagonist known to be linked with intraoperative floppy-iris syndrome (IFIS), which is characterized by iris atonicity and a propensity toward progressive intraoperative pupil constriction and iris prolapse. We present 2 strategies for managing IFIS-associated iris prolapse. Placement of a single subincisional iris retractor following reposition of ...
Wang Dandan - - 2009
Some distinct findings of a patient with Axenfeld-Rieger syndrome from the anterior chamber angle images by high-resolution anterior segment optical coherence tomography (AS-OCT) are described. The typical anterior segment anomalies of Axenfeld-Rieger syndrome, including iris atrophy, posterior embryotoxon, peripheral bridging tissue bands, trabecular meshwork elongation, and high insertion of the ...
Esson Douglas - - 2009
A clinical syndrome comprising the formation of thin-walled cysts within the posterior chamber, proteinaceous exudation, and pigment dispersion, which typically culminates in glaucoma is recognized in the Golden Retriever breed. Although not uncommon, this syndrome has been relatively infrequently documented in the literature, particularly from a histological standpoint. Fifteen globes ...
Storr-Paulsen Allan - - 2009
Intraoperative floppy iris syndrome (IFIS) during cataract surgery is characterized by iris fluttering, iris prolapse towards the incisions, and a progressive pupillary constriction leading to high rates of complications. The syndrome has been reported following the treatment of benign prostatic hyperplasia with α-1(a) adrenergic receptor inhibitors, especially tamsulosin. The present ...
Ramadan G I - - 2009
This report describes for the first time the association of Beckwith-Wiedemann syndrome (BWS) and hypothyroidism in a 25 weeks preterm neonate. Antenatal diagnosis of exomphalos in association with postnatal transient hypoglycemia and macroglossia formed the basis of the diagnosis of BWS. Primary hypothyroidism was detected on routine Guthrie card examination. ...
Nebesio Todd D TD Department of Pediatrics, Section of Pediatric Endocrinology/Diabetology, Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, IN 46202, USA. - - 2009
We report a girl with Down syndrome who was diagnosed with congenital hypothyroidism in the newborn period due to left thyroid hemiagenesis. Unexpectedly, her hypothyroidism resolved at the age of 3 years. After being off thyroid hormone replacement for 7 years and having normal thyroid function, she developed Graves' disease. ...
Gupta Viney
We describe the occurrence of bilateral iridocorneal endothelial (ICE) syndrome with glaucoma in a young girl with Down′s syndrome. A 16-year-old girl with Down′s syndrome was found to have secondary glaucoma in the right eye with features of progressive iris atrophy in both eyes. She was uncontrolled on maximum tolerable ...
Angelilli Allison
Exfoliation syndrome (XFS) is an age-related, generalized disorder of the extracellular matrix characterized by the production and progressive accumulation of a fibrillar extracellular material in many ocular tissues and is the most common identifiable cause of open-angle glaucoma worldwide. Exfoliation syndrome plays an etiologic role in open-angle glaucoma, angle-closure glaucoma, ...
Gupta Viney - - 2009
We describe the occurrence of bilateral iridocorneal endothelial (ICE) syndrome with glaucoma in a young girl with Down's syndrome. A 16-year-old girl with Down's syndrome was found to have secondary glaucoma in the right eye with features of progressive iris atrophy in both eyes. She was uncontrolled on maximum tolerable ...
Angelilli Allison - - 2009
Exfoliation syndrome (XFS) is an age-related, generalized disorder of the extracellular matrix characterized by the production and progressive accumulation of a fibrillar extracellular material in many ocular tissues and is the most common identifiable cause of open-angle glaucoma worldwide. Exfoliation syndrome plays an etiologic role in open-angle glaucoma, angle-closure glaucoma, ...
Chang David F - - 2008
Intraoperative floppy-iris syndrome (IFIS) is associated with the use of systemic alpha(1)-antagonists, and tamsulosin in particular. The incidence and severity of IFIS are variable; however, the syndrome is associated with a higher rate of cataract surgical complications, especially when the condition is not recognized or anticipated. Questioning cataract patients preoperatively ...
Stagi S - - 2008
We describe a patient with the clinical spectrum of Young-Simpson syndrome. This rare genetic disorder is characterized by congenital hypothyroidism, mental retardation and blepharophimosis. Young-Simpson syndrome is, at present, poorly known to endocrinologists and pediatricians, and should be included in the differential diagnosis of congenital hypothyroidism. It is important to ...
Laemmer Robert - - 2008
Pigment or melanin dispersion syndrome is characterized by radial iris transillumination defects, retrocorneal Krukenberg spindle, and dense trabecular pigmentation. Reverse pupillary block has been presumed as one possible pathogenetic mechanism for backward bowing of the iris leading to iris-zonular rubbing and distribution of melanin granules in the anterior chamber. Laser ...
Schlötzer-Schrehardt Ursula - - 2009
Pseudoexfoliation (PEX) syndrome is a generalized disease of the extracellular matrix and a major cause of severe open-angle glaucoma. Single nucleotide polymorphisms (SNPs) in exon 1 of the lysyl oxidase-like 1 (LOXL1) gene have been recently identified as strong genetic risk factors for both PEX syndrome and PEX glaucoma. LOXL1 ...
Bredrup Cecilie - - 2008
PURPOSE: To study the ocular phenotype of Pierson syndrome and to increase awareness among ophthalmologists of the diagnostic features of this condition. DESIGN: Retrospective, observational case series. METHODS: A multicenter study of 17 patients with molecularly confirmed Pierson syndrome. The eye findings were reviewed and compared to pertinent findings from ...
Gualtieri William - - 2008
This interventional case report presents an anterior chamber intraocular lens (AC-IOL) translocation technique to manage a case of uveitis-glaucoma-hyphema (UGH) syndrome associated with posterior dislocation of nuclear fragments and vitreitis as a consequence of capsule rupture during cataract surgery. Pars plana vitrectomy followed by an AC-IOL translocation from the anterior ...
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