Severe lupin bean intoxication: an anticholinergic toxidrome

Lupin beans are the yellow legume seeds of the genus Lupinus. They are traditionally eaten as a pickled snack in many countries. Bitter lupin beans have a high amount of alkaloids called lupanine. Because the alkaloid is responsible for anticholinergic toxidrome, the beans should pass a debittering process before consumption. Only few pediatric cases of lupin bean intoxication were reported. We present a 12-year-old boy who visited the emergency department for the unexpected onset of anticholinergic toxidrome

Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1

<p>Abstract</p> <p>Background</p> <p>Congenital fibrosis of the extraocular muscles types 1 and 3 (CFEOM1/CFEOM3) are autosomal dominant strabismus disorders that appear to result from maldevelopment of ocular nuclei and nerves. We previously reported that most individuals with CFEOM1 and rare individuals with CFEOM3 harbor heterozygous mutations in <it>KIF21A</it>. <it>KIF21A </it>encodes a kinesin motor involved in anterograde axonal transport, and the familial and <it>de novo </it>mutations reported to date predictably alter one of only a few KIF21A amino acids – three within the third coiled-coil region of the stalk and one in the distal motor domain, suggesting they result in altered KIF21A function. To further define the spectrum of <it>KIF21A </it>mutations in CFEOM we have now identified all CFEOM probands newly enrolled in our study and determined if they harbor mutations in <it>KIF21A</it>.</p> <p>Results</p> <p>Sixteen CFEOM1 and 29 CFEOM3 probands were studied. Three previously unreported <it>de novo </it>KIF21A mutations were identified in three CFEOM1 probands, all located in the same coiled-coil region of the stalk that contains all but one of the previously reported mutations. Eight additional CFEOM1 probands harbored three of the mutations previously reported in <it>KIF21A</it>; seven had one of the two most common mutations, while one harbored the mutation in the distal motor domain. No mutation was detected in 5 CFEOM1 or any CFEOM3 probands.</p> <p>Conclusion</p> <p>Analysis of sixteen CFEOM1 probands revealed three novel <it>KIF21A </it>mutations and confirmed three reported mutations, bringing the total number of reported <it>KIF21A </it>mutations in CFEOM1 to 11 mutations among 70 mutation positive probands. All three new mutations alter amino acids in heptad repeats within the third coiled-coil region of the KIF21A stalk, further highlighting the importance of alterations in this domain in the etiology of CFEOM1.</p

Case Report. Acremonium falciforme fungemia in a patient with acute leukaemia

We describe a case of Acremonium falciforme fungemia under treatment of fluconazole. A . falciforme is a common saprophyte. This fungus has been isolated from a patient's specimen, and the organism may have contributed to his death

Causes of low vision and blindness in a Turkish adult population: the Izmir eye study

Background: Data from Turkey show that sense organ diseases were the second leading cause of years lost due to disability in 2015. However, there are no reliable data on either the baseline causative disorders of visual impairment or the burden of these disorders on the population in Izmir region. Izmir is the third most populated city of Turkey with a population of approximately 4.2 million. Aim: The purpose of this study was to define the baseline disorders causing low vision and blindness in accordance with World Health Organization criteria in an adult population in Izmir. Methods: We evaluated the ophthalmologic reports of 20 790 people in Izmir, Turkey. Age- and sex-specific causes of low vision and blindness were identified. Results: Bilateral low vision and blindness was detected in 347 people, 172 males and 175 females. For those aged 18-50 years, retinal dystrophies (37%), congenital eye anomalies (14%) and myopic degenerations (13%) were the most common causes. For those aged 50+years, age-related macular degeneration (21%) was the leading cause. Diabetic retinopathy (17%), corneal opacities (14%), cataract (12%) and glaucoma (9%) were also important. Sex was not a significant determinant. Conclusion: The specific causes of visual impairment vary greatly with age, however, unavoidable retinal pathologies were the predominant causes at all ages

Outbreak of nosocomial fungemia caused by Candida glabrata

An outbreak of Candida glabrata fungemia that was thought to be associated with bottles used for milk feeds occurred at our children's infectious diseases clinic. This cluster of cases was investigated using a case-control study. Isolates were identified by conventional methods and karyotyped using pulsed-field gel electrophoresis (PFGE) of genomic DNA. Potential risk factors for nine hospitalized children with candidemia and 14 controls were long-term hospitalization and treatments with more than two antibiotics. Electrophoretic karyotyping showed a single chromosomal pattern for these outbreak isolates and, in addition, they all had the same antifungal susceptibility results. These findings suggest that clonal dissemination of a single strain was responsible for this outbreak. Karyotyping by PFGE appears to be a useful molecular typing method for strains of C. glabrata

Weight reduction for a better visual outcome in idiopathic intracranial hypertension

<div><p>ABSTRACT Purpose: To evaluate the correlation between weight reduction and visual outcome in overweight patients with idiopathic intracranial hypertension. Methods: Thirty-nine newly diagnosed, overweight (body mass index >25 kg/m2) patients with idiopathic intracranial hypertension were studied retrospectively. All patients underwent medical treatment with acetazolamide, and a weight reduction program was also offered. Patients were grouped according to their compliance with this weight reduction program into the diet-success (Group 1) and diet-failure groups (Group 2). Body mass index, papilledema, visual acuity, and perimetric mean deviation were compared at the end of the 6-month study period. Results: Groups 1 and 2 did not differ regarding the baseline mean body mass index (32.63 ± 5.61, 32.35 ± 5.06 kg/m2), visual acuity (0.080 ± 0.13, 0.130 ± 0.24 logMAR), perimetric mean deviation (-9.978 ± 0.68, -12.86 ± 8.91), or papilledema grade (2.94 ± 0.22, 2.90 ± 0.30), respectively (p>0.05). During the 6 months' follow-up, Group 1 patients, who complied with both medical and diet therapy, improved significantly in all parameters, including body mass index (p<0.001), visual acuity (p=0.001), perimetric mean deviation (p=0.016), and papilledema grade (p<0.001). Conversely, Group 2 patients, who only underwent medical therapy, improved only in papilledema grade (p<0.001). However, coincident development of optic disc pallor was observed in three patients. Further, they also had significant loss in visual acuity (p=0.047) during the study period. Conclusion: Weight reduction combined with medical treatment is associated with significantly better improvement in visual acuity, visual field, and papilledema in idiopathic intracranial hypertension patients. Compliance with an efficient diet program should be encouraged in overweight patients with idiopathic intracranial hypertension.</p></div

A Rare Patient With Orbital Apex Syndrome, Anterior Uveitis, and Necrotizing Scleritis Due to Herpes Zoster Ophthalmicus

The purpose of this study was to describe a patient of orbital apex syndrome, anterior uveitis, secondary glaucoma, corneal dellen, and necrotizing scleritis following an attack of herpes zoster ophthalmicus, and the placement of a pericardial patch graft. A 64-year-old male patient with blepharoptosis of his right eye and multiple vesicles on the forehead, nose and cheeks, limitation on all gazes, blepharoptosis, and exophthalmia was eventually diagnosed with ophthalmic zona with orbital apex syndrome. After the treatment with systemic antiviral and steroid, there was complete recovery of the unilateral vesicular eruption, ophthalmoplegia, and ptosis at the third month follow-up. However, anterior uveitis, necrotizing scleritis, secondary glaucoma, and corneal dellen developed during follow-up. At the ninth month, pericardial patch graft (Tutoplast) was placed due to progression of the scleral thinning. Graft vascularization was completed. Careful and long-term follow-up of patients with ophthalmic zona is required for possible ophthalmic complications of varicella zoster virus infections. A pericardial patch graft might be placed due to the development of necrotizing scleritis

Clinical and MRI findings of cerebellar agenesis in two living adult patients

Cerebellar agenesis (CA) is an extremely rare entity. We present two adult patients with CA. The 61-year-old man had ataxia, dysarthria, abnormalities in cerebellar tests, severe cognitive impairment, and moderate mental retardation. The 26-year-old woman had dysmetria, dysdiadochokinesia, and dysarthria as well as mild cognitive impairment and mild mental retardation. Magnetic resonance imaging (MRI) showed complete absence of the cerebellum with small residual vermis. Brainstem was hypoplastic and structures above tentorium were normal. Supratentorial white matter bundles were unaffected in diffusion tensor tractography. Only few adult patients with CA have so far been published. These cases show that patients with CA present with a variety of developmental, clinical, and mental abnormalities; and emphasize the role of the cerebellum in normal motor, language, and mental development