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BOR Syndrome
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1. Metabolic syndrome and risk of cardiovascular disease: a meta-analysis.
Match Strength: 4.626

PURPOSE: The use of different definitions of the metabolic syndrome has led to inconsistent results on the association between the metabolic syndrome and risk of cardiovascular disease. We examined the association between the metabolic syndrome and risk of cardiovascular disease. METHODS: A MEDLINE search (1966-April 2005) was conducted to identify prospective studies that examined the association between the metabolic syndrome and risk of cardiovascular disease. Information on sample size, participant characteristics, metabolic syndrome definition, follow-up duration, and endpoint assessment ... Read More »
» Published in Am J Med. 2006 Oct;119(10):812-9.

2. Neu-Laxova syndrome: a case report and review of the literature.
Match Strength: 4.623

Neu-Laxova syndrome (NLS) is a rare autosomal recessive syndrome, characterized by severe intrauterine growth retardation (IUGR), microcephaly, abnormal brain development, oedema and ichthyosis. It was first reported in 1971 by Neu et al. (Pediatrics 47: 610-612) and since then no more than 60 cases have been reported. A newborn girl delivered from a 29-year-old healthy mother was admitted to hospital with a thick membrane covering her body and dismorphic appearance. The diagnosis of NLS was made according to characteristic features. The syndrome is known to have a poor prognosis and the baby ... Read More »
» Published in J Eur Acad Dermatol Venereol. 2006 Oct;20(9):1126-8.

3. Double retroaortic left renal veins as a possible cause of pelvic congestion syndrome: imaging findings in two patients.
Match Strength: 4.590

Pelvic congestion syndrome is characterized by chronic pelvic pain and varicose veins around the uterus and ovaries. We report two cases of double retroaortic left renal vein, associated with left-sided pelvic congestion syndrome, diagnosed by CT and confirmed by clinical findings and colour Doppler ultrasound. Double retroaortic left renal veins may be a contributing factor for the development of left pelvic congestion syndrome. This is the first report of double retroaortic left renal vein and associated pelvic congestion syndrome. Publication Types: Case ... Read More »
» Published in Br J Radiol. 2006 Oct;79(946):e152-5.

4. Metabolic syndrome as a risk factor for coronary heart disease and stroke: An 11-year prospective cohort in Taiwan community.
Match Strength: 4.574

OBJECTIVE: Patterns of metabolic syndrome among populations in the Asia-Pacific region remain unknown. This study sought to establish the prevalence of metabolic syndrome in Taiwan and the risk of cardiovascular disease imparted by this syndrome. METHODS AND RESULTS: A cohort of 3602 individuals aged 35 years and above from one Taiwan community in 1990-1991 was followed up for a median of 9.0 years (inter-quartile range: 7.9-10.0 years). Women had a higher prevalence rates of age-standardized metabolic syndrome than men (28.9% versus 16.6%) by original NCEP-ATP III criteria, and the rates ... Read More »
» Published in Atherosclerosis. 2006 Sep 13;

5. Epidemiology and peculiarities of pediatric multiple organ dysfunction syndrome in New Delhi, India.
Match Strength: 4.398

OBJECTIVE: Most pediatric studies on multiple organ dysfunction syndrome derive from developed countries. There is little information regarding the etiologies and outcomes of multiple organ dysfunction syndrome in critically ill children from developing countries. The objective of this study was to examine the differences in epidemiology of multiple organ dysfunction syndrome and the relationship of the Organ Failure Index (OFI) to outcomes from multiple organ dysfunction syndrome in critically ill children from a developing country. DESIGN: Prospective observational study. SETTING: A 10-bed ... Read More »
» Published in Intensive Care Med. 2006 Nov;32(11):1856-62. Epub 2006 Sep 15.

6. Aspects of digestive tract tumors in Down syndrome: a literature review.
Match Strength: 4.343

The purpose of this study was to describe the digestive neoplasms found in persons with Down syndrome. Due to intellectual disability, persons with Down syndrome do not convey their symptoms and pain, leading to delayed diagnosis and potentially worse outcome. It is thus important to know which organs are at risk for tumors and possible tumor risk factors. In a review of the literature, we found 13 benign tumors and 127 cancers in 1 fetus, 8 children, and 131 adults with Down syndrome. The review suggests a decreased incidence of digestive cancer, however, with a possible increased incidence ... Read More »
» Published in Dig Dis Sci. 2006 Nov;51(11):2053-61. Epub 2006 Sep 29.

7. Serotonin syndrome caused by minimum doses of SSRIS in a patient with spinal cord injury.
Match Strength: 4.322

There have been only a few reports of serotonin syndrome developing after mono-therapy with a selective serotonin reuptake inhibitor (SSRI). We report a case of serotonin syndrome caused by long-term therapy with fluvoxamine prior to treatment with paroxetine. An 18-year-old man with spinal cord injury (SCI) at thoracic level 2-3 presented with onset of serotonin syndrome after taking fluvoxamine (50 mg per day) for 8 weeks prior to treatment with paroxetine (10 mg per day) for 6 days. He had confusion, agitation, severe headache, tachycardia (124 beats/minute), hypertension (165/118 mmHg), ... Read More »
» Published in Fukushima J Med Sci. 2006 Jun;52(1):29-33.

8. Munchausen syndrome by proxy caused by ipecac poisoning.
Match Strength: 4.287

OBJECTIVE: To present a case of Munchausen syndrome by proxy caused by ipecac poisoning to increase the awareness of their warning signs and symptoms so that they may be recognized and diagnosed earlier. CASE: Report of one case of a child who was determined to be a victim of Munchausen syndrome by proxy by ipecac poisoning who was hospitalized multiple times over a 4-year period at 2 different hospitals before an accurate diagnosis was made. Publication Types: Case ... Read More »
» Published in Pediatr Emerg Care. 2006 Sep;22(9):655-6.

9. NARP syndrome and adult-onset generalised seizures.
Match Strength: 4.232

The neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) syndrome is a maternally inherited disorder attributable to a heteroplasmic mtDNA point mutation. Catastrophic epilepsy may accompany severe, early onset forms of NARP, but seizures seem to be rare in cases with adolescent and adult onset. We describe a patient who developed clumsiness and visual problems in her teens. She had no clinical seizures but an EEG showed generalized spike and wave discharges. At this time the patient remained without a specific diagnosis. At the age of 21, the patient developed progressive ataxia ... Read More »
» Published in Epileptic Disord. 2006 Sep;8(3):200-3.

10. Cardiac surgery unmasks latent hypoparathyroidism in a child with the 22q11.2 deletion syndrome.
Match Strength: 4.223

The 22q11.2 deletion syndrome is a developmental field defect of the third and fourth pharyngeal pouches characterized by a spectrum of thymic and parathyroid gland abnormalities and conotruncal cardiac defects. Latent hypoparathyroidism, defined as normocalcaemia at rest but reduced ability to secrete parathyroid hormone (PTH) in response to pharmacologically evoked hypocalcaemia, is found in 30-50% of people with this syndrome. Its natural history is unknown. We describe a 1.5 year-old girl with tetralogy of Fallot, normal calcium metabolism and few facial dysmorphic features who developed ... Read More »
» Published in J Pediatr Endocrinol Metab. 2006 Jul;19(7):943-6.

11. Cerebral salt wasting syndrome in children with acute central nervous system injury.
Match Strength: 4.201

The purpose of this investigation was to describe the causes, clinical pattern, and treatment of cerebral salt wasting syndrome in children with acute central nervous system injury. This retrospective study focused on patients120 mEq/L), and volume depletion. Fourteen patients were identified with cerebral salt wasting ... Read More »
» Published in Pediatr Neurol. 2006 Oct;35(4):261-3.

12. Anesthetic implications of the catastrophic antiphospholipid syndrome.
Match Strength: 4.161

The antiphospholipid antibody syndrome (or the anticardiolipin antibody syndrome) is characterized by the presence of autoantibodies. Its major association is with systemic lupus erythematosus. 'Catastrophic' antiphospholipid syndrome (CAPS) is defined as an accelerated form of APS usually resulting in multiorgan failure and can be precipitated by surgery. We present the case of a 12-year-old male child who presented for enucleation of his left eye for fungal endopthalmitis. This patient had a history of CAPS 2 months before surgery with myocardial, gastrointestinal, renal and laryngeal ... Read More »
» Published in Paediatr Anaesth. 2006 Oct;16(10):1090-3.

13. High prevalence of plateau iris configuration in family members of patients with plateau iris syndrome.
Match Strength: 4.157

PURPOSE: The purpose of the study was to ascertain the prevalence of plateau iris syndrome in the first-degree relatives of those patients affected with plateau iris syndrome. METHODS: All patients seen with plateau iris syndrome over a 5-year period were identified. These patients were approached for participation and first-degree family members above 18 years of age were screened. All people identified with plateau iris configuration underwent ultrasound biomicroscopy to document and confirm the angle configuration and subsequent gonioscopy after laser iridotomies. RESULTS: Sixteen patients ... Read More »
» Published in J Glaucoma. 2006 Oct;15(5):394-8.

14. Peripheral neuropathies of the median, radial, and ulnar nerves: MR imaging features.
Match Strength: 4.103

The median, radial, and ulnar nerves of the upper limbs may be affected by various peripheral neuropathies, each of which may be categorized according to its cause, as either an entrapment or a nonentrapment neuropathy. Entrapment neuropathies, also referred to as nerve compression syndromes, include the supracondylar process syndrome, pronator syndrome, anterior interosseous nerve syndrome, carpal tunnel syndrome, posterior interosseous nerve syndrome, cubital tunnel syndrome, and Guyon canal syndrome. Nonentrapment neuropathies include traumatic nerve injuries, infectious and inflammatory ... Read More »
» Published in Radiographics. 2006 Sep-Oct;26(5):1267-87.

15. Normal obstetric ultrasound reduces the risk of Down syndrome in fetuses of older mothers.
Match Strength: 4.103

The objective of this study is to determine whether a normal fetal morphology ultrasound scan in women older than 35 years reduces the risk of aneuploidy. We reviewed the results of amniocentesis and second trimester sonogram in all women older than 35 years from 1991 to 1995. None had prior screening. We excluded fetuses with structural anomalies. We determined the sensitivity and specificity of minor markers in detecting Down syndrome and also determined the reduction in risk of a normal sonogram. Among the 2060 women older than 35 years giving birth during the study period, 16 (0.78%) ... Read More »
» Published in Australas Radiol. 2006 Oct;50(5):429-34.

16. Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction.
Match Strength: 3.828

Noonan syndrome is a relatively common, genetically heterogeneous Mendelian trait with a pleiomorphic phenotype. Prior to the period covered in this review, missense mutations in PTPN11 had been found to account for nearly 50% of Noonan syndrome cases. That gene encodes SHP-2, a protein tyrosine kinase that plays diverse roles in signal transduction including signaling via the RAS-mitogen activated protein kinase (MAPK) pathway. Noonan syndrome-associated PTPN11 mutations are gain-of-function, with most disrupting SHP-2's activation-inactivation mechanism. Here, we review recent information ... Read More »
» Published in Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R220-6.

17. Delayed diagnosis of congenital factor IX deficiency (Christmas disease) in a girl with Turner's Syndrome.
Match Strength: 3.808

Patients with Turner's syndrome are at risk of X-linked recessive disorders. We report a case of a young girl with Turner's syndrome with persistent mildly abnormal coagulation studies associated with a mild to moderate bleeding diathesis. The abnormalities were initially attributed to intrahepatic cholestasis and were partially responsive to vitamin K. After an interval of several years an episode of unexplained iron deficiency anaemia prompted re-investigation of the mild coagulopathy. Disproportionate reduction in the factor IX concentration and restoration of haemostasis with factor IX ... Read More »
» Published in Clin Lab Haematol. 2006 Oct;28(5):355-6.

18. Comparison of orbital magnetic resonance imaging in duane syndrome and abducens palsy.
Match Strength: 3.774

PURPOSE: To help resolve the clinical ambiguity between Duane syndrome with severe abduction deficit and abducens palsy, we performed orbital magnetic resonance imaging (MRI) to qualify abnormalities of the lateral rectus (LR) muscle in these entities. DESIGN: Prospective observational case series. METHODS: Orbital MRI was performed in 13 subjects with Duane syndrome (19 eyes), 10 subjects with chronic abducens palsy (10 eyes), and 10 orthotropic control subjects (18 eyes). High-resolution, surface coil, T(1)-weighted MRI was used to obtain contiguous, 2-mm thick quasi-coronal images of the ... Read More »
» Published in Am J Ophthalmol. 2006 Nov;142(5):827-34. Epub 2006 Sep 20.

19. New indications for botulinum toxin in rheumatology.
Match Strength: 3.737

Previously known only as a deadly bacterial poison responsible for severe paralysis, botulinum toxin is now a well-recognized therapeutic agent used to relieve involuntary movements, dystonia-related functional impairments, spasticity, and autonomic disorders such as hyperhidrosis. Musculoskeletal pain in patients with rheumatic disorders is among the emerging indications for botulinum toxin therapy. Preliminary data have been obtained in patients with cervical or thoracolumbar myofascial pain syndrome, chronic low back pain, piriformis muscle syndrome, tennis elbow, and stiff person syndrome. ... Read More »
» Published in Joint Bone Spine. 2006 Dec;73(6):667-71. Epub 2006 Aug 30.

20. Intravalvular implantation technique for a modified Bentall's procedure in aortitis syndrome.
Match Strength: 3.726

Surgical treatments of aortic root involvement in aortitis syndrome are frequently complicated by valve detachment and pseudoaneurysmal formation during active inflammation. A 40-year-old woman with aortitis syndrome complicating the ascending aortic aneurysm, severe aortic regurgitation (AR), and left coronary ostial stenosis was successfully treated by aortic root replacement and concomitant coronary artery bypass grafting (CABG) during acute inflammation. We devised an intravalvular implantation between the fragile aortic annulus and Teflon felt to a modified Bentall's procedure, which ... Read More »
» Published in Ann Thorac Cardiovasc Surg. 2006 Aug;12(4):290-2.

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