An unusual familial dementia associated with G131V PRNP mutation.

BACKGROUND: Gerstmann-Struassler-Scheinker disease is one of the familial prion diseases secondary to mutations in the prion protein gene (PRNP). The clinical phenotype has a diverse spectrum and might show variation among cases with the same genotype. We report a patient with G131V mutation in the PRNP gene, who was initially considered to harbor familial Alzheimer's disease, based on the family history, clinical presentation and imaging findings. METHODS: A case with a G131V mutation in the PRNP gene is described, and the literature is reviewed. RESULTS: A 35-year-old man presented with personality changes, behavioral disturbances and cognitive complaints. A similar clinical phenotype was reported in the patient's father, a paternal uncle and a paternal aunt. In conjunction with the observation of mild cerebral atrophy on magnetic resonance imaging and hypometabolism in bilateral temporal and parietal lobes on positron-emission tomography studies, the diagnosis was initially considered as familial Alzheimer's disease. However, whole-exome sequencing of the index patient, confirmed with Sanger sequencing in his father and uncle, revealed the presence of a heterozygous G131V variant in the PRNP gene. CONCLUSION: To the best of our knowledge, this is the third report of a G131V mutation in the PRNP gene in the literature. Although ataxia and extrapyramidal findings accompanied dementia in patients reported in the previous literature, the members of the family in the present case primarily reported cognitive impairment, underscoring the importance of genetic evaluation in familial early-onset dementia patients, regardless of clinical and imaging features suggestive of alternative pathologies.

Physicochemical, Microstructural, and Rheological Characterization of Tigernut (Cyperus esculentus) Starch.

The aim of this study was to characterize the physicochemical properties of starch isolated from two varieties of tigernuts. The results showed wide variations between the two types of tigernuts. Mean granule sizes were 11.1 and 6.1 µm, respectively, for starch from the yellow and black while amylose content ranged from 19 to 21%. Starch gels from the yellow variety were more stable to freeze-thaw and recorded 37.1% syneresis, compared to 56.5% after the first storage cycle. Pasting properties were significantly different (p < 0.05) among starch from the two tigernut varieties, with black recording higher peak viscosity, lower breakdown, and higher setback viscosity. Gels made from the yellow variety were clearer, softer, more adhesive, and more cohesive. Both gels showed a pseudoplastic flow behavior without thixotropy.

TRAUMATIC CORNEAL LACERATION IN NORTHWESTERN NIGERIA.

BACKGROUND: Corneal laceration is a partial or full thickness corneal injury resulting from direct or indirect ocular trauma. Cornea laceration generally leads to the development of corneal opacity which is a significant cause of blindness worldwide, particularly in developing countries where facility for corneal transplant is not readily available. Clinical outcomes depend on causes, the part of cornea involved, and availability of skilled human resource and presence of corneal transplant services. AIM: To assess the presentation, causes, and outcome of management of traumatic cornea laceration among patients at Federal Medical Centre (FMC), Birnin Kebbi, Kebbi, Nigeria. METHODOLOGY: A one-year, retrospective review of all patients with traumatic corneal laceration who presented to eye clinic of Federal Medical Centre (FMC) Birnin Kebbi, Nigeria between November 2013 and October 2014. Information retrieved from the patient records included patient's bio data, clinical features, presenting visual acuity (VA), agents of injury, surgical intervention and visual outcome after treatment. The data obtained were analyzed with SPSS version 16. RESULTS: Thirty two cases of traumatic corneal laceration presented during the study period. The age of study participants ranged from 2 years to 47 years with a mean of 15.28+12.46. 16 (50%) were children less than ten years old. There were 21(65.6%) males and 11(34.4%) females with male/female ratio of 1.9:1 and 20 (62%) cases of corneal lacerations occurred at home. Majority of injuries were inflicted with sticks in 9 (28.1%) cases followed by motor bike accidents in 6(18.8%). The left eye was mostly affected 18 (56.2%). Thirteen patients (40%) presented within 24 hours of injury while 16 (50%) presented within a week while one (3.1%) reported after two weeks. Presenting visual acuities in 28(90.6%) ranged from 6/12 to hand movement and no light perception in 3(9.4%). Associated injuries included uveal prolapsed 28(87.5), cataract 15(46.9%), vitreous haemorrhage 6(18.8%) and retinal detachment 1(3.1%). All the patients had examination under anesthesia and cornea repair carried out within 36-48 hours of admission in 28(87.5%) cases and within 7 days in the remaining 4 (12.5%) patients. One (3.2%) patient developed endophthalmitis. After 6weeks follow up, visual accuity of 6/60 and better were achieved in 9 eyes. There was a statistically significant correlation between the presenting visual acuity and visual outcome. However, no relationships exist statistically between age, sex, and agent of injury. The site of injury also shows statistical association with the visual acuity at six weeks follow up. CONCLUSION: from this study, we observed that traumatic corneal lacerations were significant causes of ocular morbidity especially in children; public eye-health education is recommended as a preventive measure.

Differential effects of antipsychotics on hippocampal presynaptic protein expressions and recognition memory in a schizophrenia model in mice.

We compared the effects of subchronic clozapine and haloperidol administration on the expression of SNAP-25 and synaptophysin in an animal model of schizophrenia based on the glutamatergic hypothesis. Mice were first treated with a non-competitive NMDA antagonist MK-801 (0.3 mg/kg/day) or saline for 5 days, and then clozapine (5 mg/kg/day), haloperidol (1 mg/kg/day) or saline was administered for two weeks. The locomotion test, as a behavioral model of the positive symptoms of schizophrenia, was applied after MK-801/saline administration on day 6 for acute effects and after antipsychotic/saline administration on day 19 for enduring effects on mice activity. Memory function was assessed by the Novel Object Recognition (NOR) test, one day after the last day of antipsychotic/saline administration (day 20). Western Blotting technique was used to determine SNAP-25 and synaptophysin expressions in the hippocampus and frontal cortex. Both antipsychotics reversed the enhanced locomotion effects of MK-801. MK-801 and haloperidol decreased recognition memory performance. On the other hand, clozapine did not compromise memory. It also did not reverse the negative effects of MK-801 on memory performance. MK-801 did not change SNAP-25 and synaptophysin expressions in the hippocampus and frontal cortex. Clozapine increased hippocampal SNAP-25, decreased hippocampal synaptophysin expression, whereas frontal SNAP-25 and synaptophysin expressions remained unchanged. Haloperidol had no effects on levels of SNAP-25 and synaptophysin in the frontal cortex and hippocampus. These findings support the idea that the differential effects of clozapine might be related to its plastic effects and synaptic reorganization of the hippocampus.

The distribution of the intestinal parasitic diseases in the Southeast Anatolian (GAP=SEAP) region of Turkey.

OBJECTIVES: The physical alterations put in place by the Southeastern Anatolia Project will undoubtedly provide a remarkable economical growth and a social development in the area. In addition, the influence that formation of dam ponds, enlargement of irrigation areas, change of product and the way of cultivation, urbanization and industrialization will have an impact on the environment. To minimize the adverse effects of this process on human beings, a Community Health Project was completed by the teams participated by Ege, Dicle, Gaziantep and Harran Universities under the Directorate of Turkish Parasitology Association and by Southeastern Anatolia Project Regional Development Administration between 2001 and 2003. RESULTS: To identify individuals with parasite, feces samples were taken from a total of 4,470 individuals. Parasites were found in feces of 41.8% of men, 44.3% of women and 32.2% of children, 0-59 months old, who were included in the research and gave feces samples for parasites tests. These prevalence values indicate how widespread parasitic diseases are in the region. The high prevalence of parasitic diseases in this area is one of the causes of malnutrition in 40% of children. Parasites were detected in 44.2% of feces samples taken from rural areas and in 39.5% taken from urban areas. When the distribution of parasites detected in feces samples was studied, the most common parasites were Giardia intestinalis (18.1%), Entamoeba coli (11.8%), Ascaris lumbricoides (4.8%), Trichuris trichiura (4.5%) and Hymenolepis nana (3.9%). Distribution of parasites according to cities varied widely. The most frequently seen parasites were T. trichiura in Gaziantep; G. intestinalis in Batman, Mardin, Diyarbakir, Sirnak and Sanliurfa; and E. coli in Siirt, Kilis and Adiyaman. CONCLUSIONS: This study is the first investigation of intestinal parasite prevalence in a large region, specifically, in this GAP region and in Turkey, in general. There is no direct relationship between irrigating the cultivation areas and diffusion of parasitic diseases because the existence of intestinal parasites mentioned above is not related to the range of irrigation of cultivation areas, but is related to factors already discussed.

The anatomy of the carotico-clinoid foramen and its relation with the internal carotid artery.

The carotico-clinoid foramen is the result of ossification either of the carotico-clinoid ligament or of a dural fold extending between the anterior and middle clinoid processes of the sphenoid bone. It is anatomically important due to its relations with the cavernous sinus and its content, sphenoid sinus and pituitary gland. In this study the ossification state of the carotico-clinoid ligament, the diameter of the internal carotid artery and the carotico-clinoid foramen has been studied on 50 autopsy cases. Of the 100 carotico-clinoid foramina examined, in 27 sides (15 right, 12 left) the carotico-clinoid ligament was completely ossified, in 18 sides (9 right, 9 left) the carotico-clinoid ligament was incompletely ossified and in 55 sides (26 right, 29 left) it was a ligamentous structure. The correlation of the dimensions of the carotico-clinoid foramen and the internal carotid artery showed no statistical significance, except between the carotico-clinoid foramen with a fibrous carotico-clinoid ligament and the internal carotid artery on the right side (p=0.007, r=0.51). The existence of a bony carotico-clinoid foramen may cause compression, tightening or stretching of the internal carotid artery. Further, removing the anterior clinoid process is an important step in regional surgery; the presence of a bony carotico-clinoid foramen may have high risk. Therefore, detailed knowledge of the type of ossification between the anterior and middle clinoid processes can be necessary to increase the success of regional surgery.

Local circuit neurons in the striatum regulate neural and behavioral responses to dopaminergic stimulation.

Interneurons are critical for shaping neuronal circuit activity in many parts of the central nervous system. To study interneuron function in the basal ganglia, we tested and characterized an NK-1 receptor-based method for targeted ablation of specific classes of interneuron in the striatum. Our findings demonstrate that the neurotoxin SP-PE35, a substance P-Pseudomonas exotoxin conjugate, selectively targets striatal cholinergic and nitric oxide synthase/somatostatinergic interneurons when injected locally into the striatum. The effects of this selective cell targeting encompassed alterations in both behavioral and neural responses to dopaminergic stimulation, including altered patterns of early-gene response in striosomes and matrix. We conclude that NK-1-bearing local circuit neurons of the striatum regulate the differential responses of striatal projection neurons to dopamine-mediated signaling.

A case of Sandifer's syndrome with hand tremor.

A 1.5-month-old boy with Sandifer's syndrome is described. After an uneventful delivery, he presented torticollis, seizure-like dystonic neck movements usually associated with feeding, episodic vomiting, inspiratory stridor and hand tremor in the first month of life. Barium esophagogram demonstrated gastroesophageal reflux, for which medical therapy was started. Children with torticollis and dystonic movements should be evaluated for Sandifer's syndrome. Early diagnosis and treatment of gastroesophageal reflux may prevent complications.

Familial adult onset myoclonic epilepsy associated with migraine.

We report a new type of migraine associated epileptic syndrome in a family: adult onset myoclonic epilepsy with benign course and migraine. Affected members of the family had myoclonic and rare generalised tonic-clonic seizures. Most of the patients, but not all, had a history of migraine. Also, some cases of the family had only migraine. This family will be discussed because of two distinct features. Firstly, in this family a different type of epilepsy, adult onset myoclonic epilepsy was diagnosed that has not been classified in the ILAE 1989, classification(s), but was similar to that previously reported in Japanese families. Secondly, in most of the cases migraine was associated with the epilepsy.

Circling seizures in a case with Wilson's disease.

We report a case of Wilson's disease with circling seizures. Because of the existence of other types of frontal automatism and the EEG focus on the frontal regions, circling seizures of the patient were thought to originate from the frontal lobe. Magnetic resonance imaging demonstrated large cavitary lesions on bilateral frontal lobes. The mechanisms of circling behavior are discussed in association with Wilson's disease.

Compartmental changes in expression of c-Fos and FosB proteins in intact and dopamine-depleted striatum after chronic apomorphine treatment.

Chronic administration of dopaminergic agonists to rats with unilateral 6-OH-dopamine (6-OHDA) lesions of nigrostriatal pathway produces behavioral sensitization to subsequent agonist challenges and may serve as a model for DOPA-induced dyskinesias. In order to understand striatal mechanisms behind this long-term behavioral change we examined striatal c-Fos and FosB immunoreactivity induced by apomorphine challenge (5 mg/kg, s.c.) after 3 days of withdrawal following a 2-week administration (5 mg/kg, b.i.d., s.c.) both in intact and 6-OHDA-lesioned animals. In intact rats, c-Fos induction by acute apomorphine exposure showed a striosomal pattern, whereas FosB immunopositivity was diffusely distributed. Following chronic administration, FosB induction turned to a clear striosome dominant pattern similar to c-Fos expression. In denervated striatum, expression of both proteins was profoundly augmented in a homogeneous pattern after a single dose of apomorphine. A distinct striosomal patterning appeared after chronic apomorphine administration in ventromedial part of the denervated striatum with a down-regulation in the matrix and relative enhancement in striosomes. These results suggest that compartmental reorganization of striatal neuronal activity may play a role in long-term behavioral changes induced by chronic dopaminergic treatments both under normal and dopamine-depleted conditions.

Circling seizures.

Twelve cases with circling seizures are presented with their clinical, electroencephalographic and radiological findings. Four patients had symptomatic partial epilepsy, five had cryptogenic partial epilepsy, and the remaining three had idiopathic generalized epilepsy. Three of the patients with symptomatic partial epilepsy had frontal lesion, and one had parito-occipital lesion. Turning direction had no lateralizing value in patients with partial epilepsy. Based on our study we conclude that circling seizures may occur in different epileptic syndromes and epilepsies. In cases with symptomatic partial epilepsy, lesions are mostly located in frontal lobes but also in parietooccipital areas.

Linfoma difuso do colon. / Diffuse lymphoma of the colon

Apresenta-se um caso de um paciente de 54 anos com linfossarcoma sistemico, com acometimento difuso do colon. Foram feitas consideracoes sobre o aspecto clinico-radiologico do envolvimento do colon por linfomas