Authentic Dasein and the anxious uncanny

The philosophical reader cannot help but notice that some of the major assertions of Immanuel Kant and Martin Heidegger are thematically intertwined. Perhaps even more clearly, the viewer who approaches the work of Edvard Munch with a philosophical frame of mind will discover how the thoughts of Kant and Heidegger often illuminate key aspects of his paintings. Authentic Dasein and the Anxious Uncanny strives to analyze the main works of Edvard Munch, the father of Expressionism. This thesis uses Heidegger\u27s concepts of anxiety and being-towards-death, as well as Kant\u27s notion of the Sublime as laced with anxiety, to re-examine nineteen of the artist\u27s masterpieces. The first chapter explores the relationship between Kant and Munch, while the second focuses on artist\u27s works through the philosophy of Heidegger. The third and concluding chapter brings together Kant and Heidegger through a series of paintings to demonstrate how Munch\u27s achievement can be interpreted philosophically

Case Report - Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome

Rubinstein-Taybi Syndrome (RTS) is a multiple congenital anomaly syndrome characterized by mental retardation, broad thumbs and toes, short stature, growth retardation and distinctive facial features. We report an Egyptian patient, 5 months old with mild RTS. Our patient had mild mental retardation, growth retardation, microcephaly, hypertelorism, prominent peaked nose, high arched palate, mild micrognathia, low set posteriorly rotated ears, hirsutism, broad halluces, short 5th toe and dorsal kyphosis. However the antemongoloid slant and board thumbs and fingers were slightly evident. Also our patient had dysplastic toe nails and bilateral congenial glaucoma, with megalocornea and corneal haziness. Congenital glaucoma is considered a rare complication in RTS and dysplastic nails were not previously reported in RTS. High resolution karyotype was normal. Previous studies have documented considerable change in facial phenotype and skeletal changes with age. We consider our patient as having mild form of RTS and the features will be more evident as she grows older.Keywords: Rubinstein-Taybi Syndrome; Congenital glaucoma; Megalocornea; Broad halluces; Kyphosis; Broad thumbs; Dysplastic nail

Ellis–van Creveld syndrome with facial dysmorphic features in an Egyptian child

Ellis–van Creveld syndrome (EVC) is a chondroectodermal dysplasia. The tetrad of cardinal features includes disproportionate dwarfism, bilateral postaxial polydactyl of hands, hidrotic ectodermal dysplasia, and congenital cardiac malformations. This rare condition is inherited as an autosomal recessive trait with variable expression. Mutations of the EVC1 and EVC2 genes, located in a head to head configuration on chromosome 4p16, have been identified as causative. We report a patient with the typical features of the syndrome but with facial dysmorphic features (upward slant of eyes, megalocornea and high forehead), for the first time in the literature

Clinico-epidemiologic features of oculocutaneous albinism in northeast section of Cairo – Egypt

Background: Oculocutaneous albinism (OCA) is a genetically heterogeneous group of disorders characterized by the absence or reduced pigmentation of the skin, hair and eyes. To assess the clinico-epidemiologic features of different forms of OCA among Egyptian patients, we performed a retrospective study to determine the frequency, types, clinical presentation and associated genomic errors in albino patients and their relatives consulting the Genetics Clinic, Pediatric Hospital, Ain Shams University, Cairo, Egypt.Methods: We used the outpatients index files to identify diagnosed cases of albinism referred from the dermatologic and ophthalmologic departments with different genodermatoses over 43 year period.We used specifically designed data collection protocol forms to extract epidemiological and clinical data from the patients medical records. These were entered into a computer database and analyzed using standard statistical software.Results: The occurrence rate of albinism in our study was 20.4% of genodermatoses patients and 1 per 5843 patients attending the Pediatric hospital. Consanguineous marriage was reported among parents of 66.37% of patients and positive family history was reported in 46.01% of patients. Complete OCA was detected in 48.59% of patients, partial albinism in 41.59% of patients and syndromic albinism was detected in 7.96%. Associated genomic errors were detected in 36.28% of our albino patients and seventy one multiple mutant genomic errors were defined among relatives of thirty seven index families of oculocutaneous albinism patients.Conclusion: To the best of our knowledge, this preliminary study is the first report of its kind from Egypt. The high rate of parental consanguinity among the parents of our Egyptian albino patients may account for the frequency of this genodermatosis in Egypt

Berardinelli–Seip syndrome type 2 – An Egyptian child

We report a 2.5 year old male, first in order of birth of first cousin consanguineous parents with the typical features of Berardinelli–Seip congenital lipodystrophy 2 (BSCL2) since birth with moderate mental retardation. He had generalized lipodystrophy with various dermatologic and systemic manifestations. The patient looked older than his age with the loss of buccal pad of fat, hypertrichosis mainly on the back and lower limbs, thick scalp hair, mild prognathism, large hands and feet with prominent joints and muscular hypertrophy. Acanthosis nigricans was evident over the neck and both axillae inspite of the normal level of sugar and insulin. The abdomen was markedly prominent with mild hepatosplenomegaly and enlarged external genitals. Echo-cardiography demonstrated cardiac hypertrophy. Triglyceride level was high with reduced high density lipoproteins (HDL)

Blepharophimosis, ptosis, epicanthus inversus syndrome type 2 with red hair, lymphedema of lower limbs and kidney stones in an Egyptian patient

We report the case of a 2 month old male, 6th in order of birth of 1st cousin consanguineous marriage with the typical features of blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) including bilateral shortening of the horizontal and vertical dimensions of the palpebral fissures, bilateral eye lids drooping, lateral displacement of inner canthi with a small skin-fold obscuring the inner canthus of the eye. Our patient had normal psychomotor development. His father was similarly affected suggesting autosomal dominant inheritance. The patient had red brown hair, lymphedema of lower limbs and kidney stones which were not reported before with this syndrome. Most probably these additional features are associations with BPES

Profile of genetic disorders prevalent in northeast region of Cairo, Egypt

As clinical geneticists, we recently reviewed our 43 years experience in an attempt to represent the frequency of genetic disorders in the Division of Genetics at Pediatric Hospital, Faculty of Medicine, Ain-Shams University, Cairo, Egypt, during the period from 1966 to 2009. All patients (from birth up to 18 years) suspected of having a genetic disorder were referred to the Genetics Clinic in the same hospital. 28,689 Patients were proved to have genetic disorders after full investigations among 660,280 children attending the Pediatrics Hospital which constituted 4.35% or 43.5/1000. Neurologic disorders were the most common (31.38%) followed by hematologic disorders (18.48%), chromosomal abnormalities (11.51%), fetal, neonatal and infant deaths (6.56%), special senses (5.82%), inborn errors of metabolism (4.24%), endocrine disorders (3.87%), skeletal disorders (3.17%), genito-gonadal anomalies (3.10%), neuromuscular disorders (2.86%), syndromes (2.08%), genodermatoses (1.92%), cardiac disorders (1.47%), gastrointestinal tract anomalies (1.37%), renal anomalies (0.26%), connective tissue disorders (0.26%), respiratory defects (0.22%), vascular anomalies (0.21%), and immunologic disorders were the least common (0.19%).Keywords: Genetic disorders; Congenital malformations; Inbreeding profile; Northeast region; Cairo; Egyp