Tetralogy of Fallot variant with pulmonary atresia (pseudotruncus arteriosus) in a case of maternal PKU syndrome.

The authors report on a child with a rare variant of the Tetralogy of Fallot with pulmonary atresia also known as Pseudotruncus arteriosus, who was born by a mother affected by classic phenylketonuria (PKU), diet free of phenylalanine until the age of seven years. According to the authors, this is the first example of such rare variant in an offspring of maternal PKU syndrome.

2-(3,5-Dinitrophenyl)-1,3-dithiane carbanion: a benzylic anion with a low energy triplet state.

Calculations at the DFT level predict that benzyl anions with strong π-electron-withdrawing groups in the meta position(s) have low energy diradical or triplet electronic states. Specifically, the 2-(3,5-dinitrophenyl)-1,3-dithiane carbanion is predicted to have nearly degenerate singlet and triplet states at the (U)B3LYP level as a free anion. Its lithium ion pair is predicted to be a ground-state triplet with a substantial (26 kcal/mol) singlet-triplet energy gap. Experiments on this anion using chemical trapping, NMR, and the Evans method strongly suggest that this anion is either a triplet or a ground-state singlet with a very low energy triplet state.

Photochemical heterolysis of 3,5-bis(dimethylamino)benzyl alcohols and esters: generation of a benzyl cation with a low-energy triplet state.

An earlier computational study (CASPT2/pVDZ) by Winter et al. predicts the 3,5-bis(dimethylamino)benzyl cation to have nearly degenerate singlet and triplet states. Through product studies it is demonstrated that photolysis of 3,5-bis(dimethylamino)benzyl alcohol and its corresponding acetate and phenylacetate esters in alcoholic solvents produces a solvent incorporated adduct, 3,5-bis(dimethylamino)benzyl ethers, and 3,5-bis(dimethylamino)toluene.

Blink reflex abnormalities in children with Tourette syndrome.

Tourette syndrome (TS) is a common disorder which typically occurs during childhood or early adolescence. There is no definitive diagnostic test for TS. The objective of this study was to demonstrate whether neurophysiological abnormalities of the blink reflex can be observed in children with TS. We enrolled 15 children with TS, diagnosed according to DSM IV Diagnostic Criteria, and 15 controls. The blink reflex was elicited by stimulating the supraorbital nerve in order to measure the early response (R1), homolateral and contralateral R2 (late) responses, amplitude of R1 and duration of R2. The mean duration of R2 was significantly longer in TS patients than in the controls (P < 0.001, Student's t-test). An abnormal pattern of the blink reflex can be, even in childhood, an early neurophysiologic marker of TS, which is not related to the duration of TS or to the age of onset.

Progressive supranuclear palsy: a systematic review.

The progressive supranuclear palsy (PSP) is a rapidly progressing degenerative disease belonging to the family of tauophaties, characterized by the involvement of both cortical and subcortical structures. Although the pathogenesis of PSP is still uncertain, genetic, biochemical, and immunohistochemical studies have been performed and are reviewed here. Genetic factors, oxidative damage, neurotoxins, and environmental factors contribute to tau deposition in the cerebral areas involved in PSP. Symptoms originate from the ensuing dysfunction of dopaminergic, GABAergic, cholinergic, and noradrenergic pathways. Recent advances in neuroradiological and instrumental examinations facilitate the diagnosis and have gained new insights into the pathophysiology of PSP, although the primary cause of the disease is unknown and disease-modifying drugs are not yet available.

[Gilles de la Tourette's syndrome: a systematic review]. / Sindrome di Gilles de la Tourette: una review sistematica.

Gilles de la Tourette's syndrome is more frequent than once believed. This syndrome is a chronic disorder whose long term outcome is generally favourable, characterized by a fluctuating course. The etiopathogenesis of Gilles de la Tourette's syndrome has not been ascertained, although the frontal-subcortical neural pathways seem to be involved. This extrapyramidal syndrome is frequently associated with attention-deficit/hyperactivity disorder, obsessive-compulsive disorder, and behaviour problems. A correct diagnosis is the first step for a proper management of this disorder, which makes use of behavioural and pharmacological interventions.

Different clinical and evolutional patterns in late idiopathic and vascular parkinsonism.

OBJECTIVE: The aim of this study was to examine the clinical picture of Parkinson's disease (PD) and vascular parkinsonism (VP) in the elderly, in an attempt to differentiate the clinical history, symptoms, signs and response to therapy. MATERIAL AND METHODS: Thirty-two elderly patients with late onset PD and 45 with VP were enrolled and the clinical features of two groups were compared. All patients underwent brain MRI and were scored using the Unified Parkinson's Disease Rating Scales (UPDRS) -II, -III. RESULTS: Patients with PD had a younger age at onset and a longer duration of the disease as compared to patients with VP. Nearly all PD patients showed a good response to levodopa therapy, while only 29% of patients with VP were responsive to levodopa treatment. Vascular risk factors as well as postural tremor, gait disorders and pyramidal signs with lower body predominance, were more frequent in patients with VP. Ninety-three % of PD patients had normal MRI, whereas all patients with VP had cerebral vascular lesions. UPDRS-II, -III scores at baseline were higher in VP than in PD patients and their increases throughout the follow-up period were more marked in VP than in PD patients. CONCLUSIONS: Clinical history, symptoms, signs, response to therapy, and brain imaging help to differentiate PD and VP as two clinical entities with different clinical, prognostic and therapeutic implications, even if the coexistence of PD and a cerebral vascular disease in elderly patients is not infrequent and can make the diagnosis difficult.

Dementia with Lewy bodies: a review.

The dementia with Lewy bodies (DLB) is the second major type of senile, degenerative dementia, after the Alzheimer disease (AD). It is characterized by the presence of cytoplasmic inclusions of alpha-synuclein in the cerebral cortex and in the nuclei of the brain stem. DLB patients frequently have complex visual hallucinations, depressive symptoms, Parkinsonian manifestations and cognitive deficits, showing important associations with the Parkinson disease and the AD. The DLB should be differentiated from atypical Parkinsonisms, but the differential diagnosis often remains difficult and unsafe. Clinical and neuropathological findings, as well as neuroimaging are valuable tools in establishing specific diagnosis of DLB. Acetylcholinesterase inhibitors, dopamine-agonists, benzodiazepines of short or medium half-life, and antidepressants may be useful in the treatment of DLB, depending on the dominant symptoms of the given patients.

Efficacy and safety of fixed-dose oral sildenafil in the treatment of sexual dysfunction in depressed patients with idiopathic Parkinson's disease.

OBJECTIVE AND METHODS: The efficacy and safety of oral Sildenafil, a potent inhibitor of phosphodiesterase type 5, were evaluated in depressed men with idiopathic Parkinson's disease and erectile dysfunction. Thirty-three men were enrolled in a 4-month prospective, open-label, fixed-dose study, and received 50mg of Sildenafil in the home setting approximately 1 hour before sexual activity, not more than once daily. Efficacy was determined by responses to question 3 (ability to achieve an erection) and question 4 (ability to maintain an erection) of the 15-item International Index of Erectile Function (IIEF). Other measures of efficacy included the five sexual function domains of IIEF, a global efficacy question, the Beck Depression Inventory (BDI) and the Hamilton Depression Rating Scale-21 (HDRS-21). RESULTS: At the end of the study, improved erections were reported by 84.8% of patients. Sildenafil significantly increased patients' ability to achieve and maintain erections. Significant improvements were also observed in the IIEF domains for erectile function, orgasmic function, intercourse satisfaction and overall sexual satisfaction. BDI and HDRS scores improved from baseline to the end of the study. A clear improvement of depressive symptoms was observed in 75% of patients. Sildenafil was well tolerated in all the patients. CONCLUSIONS: Treatment with oral Sildenafil improves erectile function and, indirectly, depressive symptoms in patients with idiopathic Parkinson's disease stages 1-3, and is well tolerated.

Autoimmune thyroiditis and acquired demyelinating polyradiculoneuropathy.

Guillain-Barrè syndrome (GBS) and Miller-Fisher syndrome (MFS) are variant forms of acquired demyelinating polyradiculoneuropathy. Their concurrence with immune disorders of the thyroid is infrequent. We report on a 7.5-year-old girl in whom a subclinical thyroiditis was concurrently detected to GBS and a 70-year-old woman with Hashimoto's thyroiditis (HT) who had recurrent MFS. Even though autoimmune thyroiditis is associated with many autoimmune disorders more often than would be expected by chance alone, its concurrence with immune disorders of the peripheral nerve is less frequently reported. The calculated coincidental concurrence of acquired demyelinating polyradiculoneuropathy (in both variants, MFS and GBS) and autoimmune thyroiditis (as in the present cases) was extremely low (0.0004%), thus suggesting common pathogenic mediators.

Central motor conduction to lower limb after transcranial magnetic stimulation in spinocerebellar ataxia type 2 (SCA2).

OBJECTIVES: To evaluate central motor conduction to lower limbs in spinocerebellar ataxia type 2 (SCA2). METHODS: Transcranial magnetic stimulation was performed to study the corticospinal tracts of 18 patients with SCA2. RESULTS: Central motor conduction time (CMCT) to lower limbs and thresholds were abnormal in 8 patients (44%); CMCT and thresholds were significantly correlated with disease duration and disability. CONCLUSIONS: Corticospinal tract involvement is more frequent than previously reported in SCA2. Prolonged CMCT and increased threshold should not be used to differentiate between various type of autosomal dominant cerebellar ataxia. Similar to that reported in Friedreich's ataxia, we suggest that examining central motor conduction to the lower limbs may assist in evaluating the progressive steps of neurodegeneration in SCA2.