Re-thinking Europe vol. II

The second volume of the series Re-thinking Europe offers an extended and revised version of a collection of papers selected from those presented at the third edition of the workshop Rethinking Europe held on 19th December 2014 at the Free University of Brussels (VUB) and organised by the Centre for Ethics and Humanism in collaboration with the Centre for Critical Philosophy of Ghent University. As the reader will see, the present volume examines a diversity of topics (cosmopolitanism, fraternity, the burqa ban debate, political theology, human rights and democracy) from very different perspectives, methodological strategies and scientific backgrounds. Nevertheless, all papers share the same ultimate horizon of meaning: Europe as an on-going challenge of permanent reflection on the limits, constraints and possibilities of critical thinking.

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Aviremia 10 years postdiscontinuation of antiretroviral therapy initiated during primary human immunodeficiency virus-1 infection and association with gag-specific T-cell responses

Combination antiretroviral therapy during primary human immunodeficiency virus-1 infection may enable long-term drug-free virological control in rare individuals. We describe a female who maintained aviremia and a normal CD4(+)/CD8(+) T cell ratio for 10 years after stopping therapy, despite a persistent viral reservoir. Cellular immune responses may have contributed to this outcome.

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47 patients with FLNA associated periventricular nodular heterotopia

Background: Heterozygous loss of function mutations within the Filamin A gene in Xq28 are the most frequent cause of bilateral neuronal periventricular nodular heterotopia (PVNH). Most affected females are reported to initially present with difficult to treat seizures at variable age of onset. Psychomotor development and cognition may be normal or mildly to moderately impaired. Distinct associated extracerebral findings have been observed and may help to establish the diagnosis including patent ductus arteriosus Botalli, progressive dystrophic cardiac valve disease and aortic dissection, chronic obstructive lung disease or chronic constipation. Genotype-phenotype correlations could not yet be established. Methods: Sanger sequencing and MLPA was performed for a large cohort of 47 patients with Filamin A associated PVNH (age range 1 to 65 years). For 34 patients more detailed clinical information was available from a structured questionnaire and medical charts on family history, development, epileptologic findings, neurological examination, cognition and associated clinical findings. Available detailed cerebral MR imaging was assessed for 20 patients. Results: Thirty-nine different FLNA mutations were observed, they are mainly truncating (37/39) and distributed throughout the entire coding region. No obvious correlation between the number and extend of PVNH and the severity of the individual clinical manifestation was observed. 10 of the mutation carriers so far are without seizures at a median age of 19.7 years. 22 of 24 patients with available educational data were able to attend regular school and obtain professional education according to age. Conclusions: We report the clinical and mutation spectrum as well as MR imaging for a large cohort of 47 patients with Filamin A associated PVNH including two adult males. Our data are reassuring in regard to psychomotor and cognitive development, which is within normal range for the majority of patients. However, a concerning median diagnostic latency of 17 to 20 years was noted between seizure onset and the genetic diagnosis, intensely delaying appropriate medical surveillance for potentially life threatening cardiovascular complications as well as genetic risk assessment and counseling prior to family planning for this X-linked dominant inherited disorder with high perinatal lethality in hemizygous males.

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Bezugskasus, Gestaltungskasus, Randkasus, Umfangskasus, Vollkasus (Roman Jakobson)

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An annoyance from an anomalous OS

Description

A 32-year-old man, a farmer, presented with chronic pain in his left foot of 9 years duration. There was no history of trauma. Pain was typically aggravated by walking in the fields (uneven ground) or after prolonged standing. Several orthopaedists had treated this condition as an ankle sprain and plantar fasciitis for the past 9 years. However, the symptoms persisted. Clinical examination revealed a normal gait and normally arched left foot. No swelling was noted anywhere in the foot and ankle. Tenderness was noted over the lateral border of the foot, close to the calcaneocuboid joint. Eversion of the foot was characteristically painful and limited.

A bony prominence was noted distal to the fibula on plain X-rays (anteroposterior and lateral views) of the ankle (figure 1). MRI (1.5 T) study of the ankle observed a well-corticated bone lateral to the tip of the lateral malleolus articulating with the...

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Elephantiasis nostras verrucosa secondary to congestive cardiac failure

Description

A 70-year-old woman with ischaemic cardiomyopathy was admitted and treated for de-compensated congestive cardiac failure (CCF). She had previously received treatment for recurrent episodes of lower limb cellulitis and reported progressively worsening swelling interfering with her daily activities. She had no history of filariasis or Milroy's disease.

Cutaneous examination showed grossly oedematous lower limbs with a woody, indurated feel on palpation (figure 1). There were multiple, tiny verrucous papules interspersed with postinflammatory hyperpigmentation, macerated web spaces and a positive Kaposi-Stemmer sign (figure 2). The patient was treated for CCF and lower limb cellulitis.

Figure 1

Grossly oedematous, erythematous lower limbs with verrucous papules, plaques and a woody indurated feel on palpation.

Figure 2

Positive Kaposi-Stemmer sign (inability to pinch the skin at the dorsal aspect of the base of the second toe).

First...

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Erythema induratum of Bazin and Poncet's arthropathy as epiphenomena of hepatic tuberculosis

A 42-year-old black woman presented with fever, polyarthritis, livedo reticularis, subcutaneous calf nodules and hepatomegaly. She had been diagnosed with depression 6 weeks prior. Blood analysis showed anaemia, elevated erythrocyte sedimentation rate and C reactive protein, elevated liver enzymes, and positive antinuclear and antiribonucleoprotein antibodies. Abdominal ultrasound revealed heterogeneous hepatomegaly with necrotic lymphadenopathy around the caeliac trunk and splenic hilum. We considered the following diagnoses: lymphoma, connective tissue disease, tuberculosis and sarcoidosis. Subcutaneous nodule histology was compatible with erythema induratum of Bazin, and liver biopsy evidenced granulomatous hepatitis. Although microbiological examinations were negative in tissue samples, a presumptive diagnosis of hepatic tuberculosis was admitted. Having excluded other causes, erythema of Bazin, livedo reticularis and polyarticular involvement (Poncet's arthropathy) were accepted as immunological epiphenomena associated with tuberculosis. Empirical antituberculous treatment was started and after 3 weeks the patient improved substantially. This clinical response was a further confirmation of the diagnosis.

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