Summary
Objective
The true prevalence of epileptic seizures and epilepsy in 22q11.2 deletion syndrome (22q11.2DS) is unknown, because previous studies have relied on historical medical record review. ...Associations of epilepsy with other neurodevelopmental manifestations (eg, specific psychiatric diagnoses) remain unexplored.
Methods
The primary caregivers of 108 deletion carriers (mean age 13.6 years) and 60 control siblings (mean age 13.1 years) completed a validated epilepsy screening questionnaire. A subsample (n = 44) underwent a second assessment with interview, prolonged electroencephalography (EEG), and medical record and epileptologist review. Intelligence quotient (IQ), psychopathology, and other neurodevelopmental problems were examined using neurocognitive assessment and questionnaire/interview.
Results
Eleven percent (12/108) of deletion carriers had an epilepsy diagnosis (controls 0%, P = 0.004). Fifty‐seven of the remaining 96 deletion carriers (59.4%) had seizures or seizurelike symptoms (controls 13.3%, 8/60, P < 0.001). A febrile seizure was reported for 24.1% (26/107) of cases (controls 0%, P < 0.001). One deletion carrier with a clinical history of epilepsy was diagnosed with an additional type of unprovoked seizure during the second assessment. One deletion carrier was newly diagnosed with epilepsy, and two more with possible nonmotor absence seizures. A positive screen on the epilepsy questionnaire was more likely in deletion carriers with lower performance IQ (odds ratio OR 0.96, P = 0.018), attention‐deficit/hyperactivity disorder (ADHD) (OR 3.28, P = 0.021), autism symptoms (OR 3.86, P = 0.004), and indicative motor coordination disorder (OR 4.56, P = 0.021).
Significance
Even when accounting for deletion carriers diagnosed with epilepsy, reports of seizures and seizurelike symptoms are common. These may be “true” epileptic seizures in some cases, which are not recognized during routine clinical care. Febrile seizures were far more common in deletion carriers compared to known population risk. A propensity for seizures in 22q11.2DS was associated with cognitive impairment, psychopathology, and motor coordination problems. Future research is required to determine whether this reflects common neurobiologic risk pathways or is a consequence of recurrent seizures.
We write to report a rare case of unilateral cancer-associated retinopathy previously undocumented in the literature. Cancer-associated retinopathy is an uncommon paraneoplastic syndrome. It is ...characterised by retinal antigen autoantibodies causing rod and cone dysfunction and abnormal electroretinography findings with consequent progressive visual loss.Our patient, known to have a primary cervical intraepithelial neoplasia, presented with unilateral blurred vision as well as a disturbance in colour and night vision. Electroretinography findings of reduced a and b waves in the right eye, together with a fundoscopic appearance of a mottled retinal pigment epithelium, attenuated blood vessels and optic disc pallor were consistent with unilateral cancer-associated retinopathy. Posterior subtenon injections of triamcinolone were administered to control active disease. With periocular steroid injections, at 4 years, our patient's visual acuity remained relatively stable and her condition persisted strictly unilaterally. Cancer-associated retinopathy may be the first presenting sign of an underlying malignancy or may indicate its recurrence. Moreover, in patients with a diagnosed gynaecological malignancy, visual symptoms could reflect cancer-associated retinopathy. In our patient visual symptoms came secondary to the diagnosis of cancer.
Objective To explore the perceived wisdom that papal mortality is related to the success of the Welsh rugby union team.Design Retrospective observational study of historical Vatican and sporting ...data.Main outcome measure Papal deaths between 1883 and the present day.Results There is no evidence of a link between papal deaths and any home nation grand slams (when one nation succeeds in beating all other competing teams in every match). There was, however, weak statistical evidence to support an association between Welsh performance and the number of papal deaths.Conclusion Given the dominant Welsh performances of 2008, the Vatican medical team should take special care of the pontiff this Christmas.
Neutral-lipids within oilseeds are most commonly stored in oil bodies, small spherical organelles with oleosin proteins inserted through a phospholipid monolayer. Oil bodies extracted from Echium ...plantagineum are highly enriched in polyunsaturated fatty acids and are stable to coalescence and oxidation. This stability has been attributed to the strong association between the phospholipid monolayer and oleosin proteins. To better understand this association the phospholipid fatty acyl groups of E. Plantagineum oil bodies were determined for the first time; a large proportion (≈70%) of saturated fatty acids were present, and this may aid in oleosin anchorage and thus contributes to oil body stability. The effect of oil body washing on surface charge was also observed (using turbidity, zeta and streaming potentials), and dependent on the washing protocol, E. Plantagineum oil bodies had an isoelectric point of pH 4-5. This is significantly different to pI values for oil bodies from a range of other seeds reported in the literature using isoelectric focusing; a possible explanation for this discrepancy is discussed.
Echium plantagineum seed contains a highly polyunsaturated oil (approximately 14% linoleic acid, 10% γ-linolenic acid, 33% α-linolenic acid and 14% stearidonic acid); almost half of the fatty acids ...are omega-3 fatty acids, so there is an interest in the possible health benefits of this oil, which, once extracted, is prone to oxidation. For the first time in reported literature, oil bodies (OBs), the organelles that store the oil in mature seed, were recovered from E. plantagineum seeds. The oxidative stability of these organelles ex vivo, dispersed in an aqueous continuous phase, was tested against processed E. plantagineum oil emulsions stabilised with either SDS or Tween 20. For both primary and secondary oxidation products the OBs were the most stable form of dispersed oil, and the dispersed systems were all more stable than bulk E. plantagineum oil after incubating at 40°C for 7 days. The possible reasons for the enhanced chemical stability of E. plantagineum OBs are explored in this paper.Practical applications: OBs, the natural store of oil in oilseeds, can be recovered from seeds intact and are relatively stable to oxidation ex vivo. Echium seed OBs, enriched in physiologically active omega-3 fatty acids, therefore offer an attractive alternative to traditional oil extraction methods and overcome the need to encapsulate the omega-3 rich oil.
This case of chronic inflammatory demyelinating polyneuropathy (CIDP) shows that a patient’s condition can evolve from the point of admission, gradually manifesting its underlying cause. Our ...patient’s initial presentation of backpain and lower limb weakness prompted investigations which ruled out compressive myelopathy and neuropathy. As upper limb weakness developed later, along with a more proximal and symmetrical pattern of lower limb weakness, the clinical picture suggested polyneuropathy. The diagnosis of CIDP became apparent only after numerous negative tests and nerve conduction studies which identified demyelination. Diagnosing CIDP enabled the commencement of definitive treatment which led to a good recovery.
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