Sleep-disordered breathing in Chiari malformation type 1.

Type 1 Chiari malformation is defined as an elongation of the cerebellar tonsils >6 mm below the foramen magnum. Central sleep apnea is a well-recognized sign, and can be an initial presentation, of this malformation. Obstructive sleep apnea is not a widely recognized sign of Chiari type 1 malformation, though there were a few case reports. We present a 13-year-old girl who presented at our respiratory clinic with excessive nighttime snoring. Magnetic resonance imaging revealed a Chiari type 1 malformation requiring decompression. We emphasize the importance of including cervicomedullary junction disorders in the differential diagnosis of apnea, and we review the literature concerning mixed apneas and obstructive sleep apneas in Chiari type 1 malformation.

Reye syndrome and reye-like syndrome.

Reye syndrome is an acute metabolic encephalopathy, largely affecting children and adolescents. In Reye-like syndrome, because of inborn errors of metabolism, hypoglycemia, hypoketonemia, elevated ammonia, and organic aciduria are often evident. It is well-known that fatty-acid oxidation defects can present as Reye-like syndrome. The most commonly diagnosed metabolic disorder in association with Reye syndrome has been medium-chain acyl coenzyme A dehydrogenase deficiency. The present consensus seems to be that Reye syndrome is very rare, and that any child suspected of manifesting this disorder should undergo investigations for inborn errors of metabolism. We recently treated a child with "Reye-like illness" who possibly manifested a long-chain acyl dehydrogenase deficiency, and who had also ingested aspirin. We discuss the possible pathogenesis of the disorder in this child. The end results of mitochondrial dysfunction in Reye syndrome and Reye-like illness may be similar.

Molecular structure and vibrational spectra of 3-chloro-4-fluoro benzonitrile by ab initio HF and density functional method.

In this work, the experimental and theoretical spectra of 3-chloro-4-fluoro benzonitrile (3C4FBN) were studied. The Fourier transform infrared and Fourier transform Raman spectra of 3C4FBN were recorded in the solid phase. The optimized geometry was calculated by HF and B3LYP methods with 6-311++G(d,p) basis set. The harmonic-vibrational frequencies, infrared intensities and Raman scattering activities of the title compound were performed at and HF/B3LYP/6-311++G(d,p) level of theories. The scaled theoretical wave number showed very good agreement with the experimental values. The thermodynamic functions of the title compound was also performed at HF/6-31G(d,p) and B3LYP/6-311++G(d,p) level of theories. A detailed interpretation of the infrared and Raman spectra of 3C4FBN was reported. The theoretical spectrograms for FT-IR and FT-Raman spectra of the title molecule have been constructed.

Synthesis and characterization of fluorinated anatase nanoparticles and subsequent N-doping for efficient visible light activated photocatalysis.

Fluorinated-titanium dioxide (TiO2-F) nanoparticles in a pure anatase polymorph was precipitated from solution by hydrolysis of titanium oxychloride, using urea and ammonia as precipitation agents and potassium fluoride as a source of fluorine anion. A further wet attrition milling in presence of glycine completed by a heat treatment allowed an additional nitrogen doping of TiO2 (TiO2-F&N-HT). The morphology and crystalline structure of the as-synthesized powder was determined by transmission electron microscopy (TEM) and X-ray diffraction (XRD) and showed that TiO2 powder was composed of nanoparticles with narrow size distribution which crystallized in the anatase phase. X-ray photoelectron spectroscopy (XPS) revealed that fluorine and nitrogen are present in TiO2 as surface fluorination and interstitial doping, respectively. UV-vis diffuse reflectance spectroscopy (DRS) showed an increased optical absorption in the visible for TiO2-F&N-HT sample. Under visible light irradiation, TiO2-F nanoparticles showed a high photocatalytic performance, showing the high potential of an improved surface fluorination for Escherichia coli (E. coli) disinfection in suspension. These results show the importance of anatase-TiO2 nanoparticles synthesis and modification by using a wet chemical approach leading to low aggregation and high specific surface area for effective bacterial inactivation. The co-doped TiO2-F&N-HT powder showed slightly improved performance compared to the fluorinated sample. The significant degree of aggregation after the heat treatment is postulated as being a limiting factor in its photocatalytic activity.

Dystonia during feeding as an early sign of dopa-responsive dystonia.

A 21/2-month-old girl presented with feeding difficulties of 8 weeks' duration. She cried, vomited, arched, and became rigid during every feeding. She was suspected of having gastroesophageal reflux disease. Dystonia and developmental delay became apparent at age 8 months. Nasogastric tube feeding and gastrostomy with Nissen's fundoplication were performed at age 7 and 12 months, respectively. She was treated with baclofen, trihexyphenidyl, and antireflux therapy, without benefit. She became severely developmentally delayed with marked head lag, dystonia, and rigidity. Levodopa therapy was initiated at age 21 months. She manifested dramatic improvement over the next year. Dystonia, rigidity, and retching disappeared soon after treatment. She experienced good catch-up in development. She exhibited poor head control and an inability to reach out at age 21 months, but bottom shuffling was observed at age 26 months, and walking and speaking three-word sentences at age 2 years and 10 months. Pertinent issues relating to signs, pathophysiology, genetics, and biochemical defects are discussed briefly.

Infantile spinocerebellar ataxia type 6: relationship to episodic ataxia type 6.

Spinocerebellar ataxia type 6 is one of the hereditary progressive cerebellar ataxias first described in 1997. Genetic studies have identified the defect as abnormal expansion of CAG trinucleotide repeat in 1 alpha subunit of the calcium channel gene located on chromosome 19p13. The symptomatic individuals have 20 or 23 repeats in contrast to normal individuals who manifest 19 or less CAG repeats. Most of the earlier reports indicate the age of onset of symptoms to be after the third decade. This report presents a patient with episodic symptoms soon after birth, which is unusual, and to our knowledge this is the youngest reported case. The clinical features of spinocerebellar ataxia type 6 are variable. The mode of inheritance and the common symptoms of this condition are also discussed.

Intracranial arachnoid cysts in children: a review of pathogenesis, clinical features, and management.

Arachnoid cysts are developmental anomalies that are most often diagnosed in childhood. They are often discovered as incidental findings found on imaging. Occasionally they may produce symptoms because of expansion or bleeding. There may be underlying maldevelopment of the cortex especially the temporal lobe. There is controversy regarding the role and the type of surgery indicated in its treatment. Recent descriptions of aphasia and attention-deficit disorders associated with these cysts indicate that we do not fully understand this entity. There is also no acceptable explanation for the male preponderance and increased incidence on the left side. The distribution, clinical features, treatment modalities, and some unusual syndromes associated with arachnoid cysts in children are discussed in this review.

Heterodera raskii n. sp. (Heteroderidae: Tylenchina), a Cyst Nematode on Grass, from Hyderabad, India.

Heterodera raskii n. sp. is described and illustrated from specimens collected from roots of bulb grass, Cyperus bulbosus, in Hyderabad, India. The new species belongs to the 'goettingiana' group and differs from closely related H. cyperi by the elongate ovoid shaped cysts and females, greater fenestral length, width, vulval slit, and absence of egg sac. The stylet knob shape was round in second-stage juveniles and posteriorly sloping in females and males of H. raskii n. sp., while it was anteriorly directed in second-stage juveniles and spherical in females and males of H. cyperi.

Conformational, structural, vibrational and quantum chemical analysis on 4-aminobenzohydrazide and 4-hydroxybenzohydrazide--a comparative study.

Experimental and theoretical quantum chemical studies were carried out on 4-hydroxybenzohydrazide (4HBH) and 4-aminobenzohydrazide (4ABH) using FTIR and FT-Raman spectral data. The structural characteristics and vibrational spectroscopic analysis were carried performed by quantum chemical methods with the hybrid exchange-correlation functional B3LYP using 6-31G(**), 6-311++G(**) and aug-cc-pVDZ basis sets. The most stable conformer of the title compounds have been determined from the analysis of potential energy surface. The stable molecular geometries, electronic and thermodynamic parameters, IR intensities, harmonic vibrational frequencies, depolarisation ratio and Raman intensities have been computed. Molecular electrostatic potential and frontier molecular orbitals were constructed to understand the electronic properties. The potential energy distributions (PEDs) were calculated to explain the mixing of fundamental modes. The theoretical geometrical parameters and the fundamental frequencies were compared with the experimental. The interactions of hydroxy and amino group substitutions on the characteristic vibrations of the ring and hydrazide group have been analysed.

Effects of hydroquinone on retinal and vascular cells in vitro.

AIM: To explore the molecular pathophysiology that might explain the epidemiologic association between cigarette smoke and age-related macular degeneration (AMD) by examining the effects of hydroquinone (HQ), a toxic compound present in high concentration in cigarette smoke-related tar, on human retinal pigment epithelial cells (ARPE-19), rat retinal neurosensory cells (R-28), and human microvascular endothelial cells (HMVEC). MATERIALS AND METHODS: ARPE-19, R-28, and HMVEC were treated for 24 h with four different concentrations of HQ (500 µM, 200 µM, 100 µM, 50 µM). Cell viability, caspase-3/7 activation, DNA laddering patterns, and lactate dehydrogenase (LDH) levels were analyzed. RESULTS: At 50 µM HQ, R-28 cells showed a significant decrease in cell viability compared with the dimethyl sulfoxide (DMSO)-treated controls. At the 100-500 µM concentrations, all three cell lines showed significant cell death (P < 0.001). In the ARPE-19, R-28, and HMVEC cultures, the caspase-3/7 activities were not increased at any of the HQ concentration. CONCLUSION: Our findings suggest that the mechanism of cell death in all three cell lines was through non-apoptotic pathway. In addition, neuroretinal R-28 cells were more sensitive to HQ than the ARPE-19 and HMVEC cultures.

Vibrational spectroscopic, electronic and quantum chemical investigations on 2,3-hexadiene.

The Fourier transform infrared (FT-IR) and Fourier transform Raman (FT-Raman) spectra of 2,3-hexadiene have been recorded in the regions 3400-400 and 3400-100 cm(-1), respectively. A complete assignment and analysis of the fundamental vibrational modes of the molecule were carried out. The observed fundamental modes have been compared with the harmonic vibrational frequencies computed using HF and DFT (B3LYP, B3PW91) methods by employing 6-31G(d,p) and 6-311++G(d,p) basis sets. The scaled vibrational frequencies are found to coincide with the experimentally observed values. Theoretical infrared and Raman spectra at HF and DFT levels have been constructed and compared with the experimental spectra. A comparative study of computed optimised geometrical parameters, infrared and Raman intensities, thermodynamic values and frequencies obtained by different quantum mechanical methods were presented. Molecular electrostatic potential, total density distribution and frontier orbital energy levels are constructed to understand the electronic properties. The most stable geometry of the compound under investigation has been determined from the potential energy surface scan.

Vibrational and electronic investigations, thermodynamic parameters, HOMO and LUMO analysis on crotonaldehyde by ab initio and DFT methods.

The energy, geometrical parameters and vibrational wavenumbers of crotonaldehyde were calculated by using ab initio and B3LYP with 6-31G(d,p) and 6-311G(d,p) basis sets. The FT-IR and FT-Raman spectra for liquid state crotonaldehyde have been recorded in the region 3400-400 cm(-1) and 3400-100 cm(-1), respectively and compared with the theoretical spectrographs constructed from the scaled harmonic vibrational frequencies calculated at HF and DFT levels. The difference between the observed and scaled wavenumber values of most of the fundamentals is very small. Detailed interpretations on vibrational modes have been made on the observed and theoretical spectra and PED for each mode was also reported more precisely. HOMO and LUMO energy levels are constructed and the corresponding theoretical frontier energy gaps are calculated to realise the charge transfer occurring in the molecule. The thermodynamic properties of the title compound have been calculated at different temperatures and the results reveals the standard heat capacities (C(0)(p)), standard entropies (S(0)) and standard enthalpy changes (ΔH(0)) increases with rise in temperature.

Vibrational investigation on FT-IR and FT-Raman spectra, IR intensity, Raman activity, peak resemblance, ideal estimation, standard deviation of computed frequencies analyses and electronic structure on 3-methyl-1,2-butadiene using HF and DFT (LSDA/B3LYP/B3PW91) calculations.

FT-IR and FT-Raman (4000-100 cm(-1)) spectral measurements of 3-methyl-1,2-butadiene (3M12B) have been attempted in the present work. Ab-initio HF and DFT (LSDA/B3LYP/B3PW91) calculations have been performed giving energies, optimized structures, harmonic vibrational frequencies, IR intensities and Raman activities. Complete vibrational assignments on the observed spectra are made with vibrational frequencies obtained by HF and DFT (LSDA/B3LYP/B3PW91) at 6-31G(d,p) and 6-311G(d,p) basis sets. The results of the calculations have been used to simulate IR and Raman spectra for the molecule that showed good agreement with the observed spectra. The potential energy distribution (PED) corresponding to each of the observed frequencies are calculated which confirms the reliability and precision of the assignment and analysis of the vibrational fundamentals modes. The oscillation of vibrational frequencies of butadiene due to the couple of methyl group is also discussed. A study on the electronic properties such as HOMO and LUMO energies, were performed by time-dependent DFT (TD-DFT) approach. The calculated HOMO and LUMO energies show that charge transfer occurs within the molecule. The thermodynamic properties of the title compound at different temperatures reveal the correlations between standard heat capacities (C) standard entropies (S), and standard enthalpy changes (H).

Bulbar dysfunction: An early presentation of congenital myasthenic syndrome in three infants.

Congenital myasthenic syndromes are a group of rare genetic disorders affecting neuromuscular transmission. A high index of suspicion is required as clinical manifestations can be variable and nonspecific. Clinical phenotype includes arthrogryposis, respiratory crises, facial deformities, and weakness. With the availability of molecular genetics, this group of conditions can now be more clearly delineated and targeted treatment can be initiated. We describe three children who presented with bulbar difficulties and had Cholinergic receptor, nicotinic, and epsilon or receptor associated protein of the synapse mutations.

Idiopathic intracranial hypertension without papilledema.

Idiopathic intracranial hypertension is characterized by high cerebrospinal fluid pressure with no underlying structural or systemic cause. Idiopathic intracranial hypertension without papilledema, although well-described in adults, is rarely reported in the pediatric population. The usual presentation is similar to that of chronic daily headache, with some features of migraine. However, treatment modalities are different, and specific therapy can lead to significant improvement in symptoms. We describe six children with chronic daily headache, who were diagnosed with idiopathic intracranial hypertension without papilledema. The response to medical management was variable. One child required a lumboperitoneal shunt for persistent signs, with good surgical outcome.

Epidemiologic variability of chronic inflammatory demyelinating polyneuropathy with different diagnostic criteria: study of a UK population.

Epidemiologic data on chronic inflammatory demyelinating polyneuropathy (CIDP) is limited, and previous studies have shown variable results. The frequencies of CIDP subtypes remain unknown. Variations due to use of different diagnostic criteria have not been studied. We examined the prevalence and incidence of CIDP in Leicestershire and Rutland, UK (population 963,600). Prevalence day was 1 May 2008. The prevalence of CIDP fulfilling the 2006 clinical and electrophysiologic European Federation of Neurological Societies/Peripheral Nerve Society (EFNS/PNS) criteria was 4.77 per 100,000 (95% confidence interval [CI] 3.49-6.37). Using the 1991 American Academy of Neurology (AAN) criteria, the prevalence was 1.97 per 100,000 in this population (95% CI 1.19-3.08). Lewis-Sumner syndrome was diagnosed in 15.2% of patients, and 23.9% had pure sensory onset. Over 40% required no immunotherapy, and 84.6% of those treated responded. More than 80% of the AAN criteria-negative but EFNS/PNS criteria-positive patients were responsive to treatment. Both sets of criteria were equally likely to identify patients who required therapy. The mean annual incidence rate over the 3 years preceding the prevalence day was 0.70 per 100,000/year using EFNS/PNS criteria (95% CI 0.43-1.08), and 0.35 per 100,000/year using AAN criteria (95% CI 0.17-0.64). We conclude that the AAN criteria may underestimate prevalence and incidence of the disease. The EFNS/PNS criteria provide higher diagnostic sensitivity and are of greater clinical relevance, and they also offer a useful breakdown of the epidemiologic data for CIDP subtypes.

Should we monitor vitamin B12 levels in patients who have had end-ileostomy for inflammatory bowel disease?

BACKGROUND AND AIMS: We examined whether vitamin B12 levels are low following surgery in those patients who have had end-ileostomy for inflammatory bowel disease. PATIENTS AND METHODS: This prospective observational study used the database of a university teaching hospital to identify patients with inflammatory bowel disease with an end-ileostomy constructed more than 30 months previously. Precise diagnosis, disease distribution and details of their surgery were collected from case notes of the 39 eligible patients (18 Crohn's disease, 17 ulcerative colitis, 4 indeterminate colitis). Mean duration since ileostomy formation was 12.53 years. Patients found to be vitamin B12 deficient underwent further investigations to ascertain the cause of their vitamin B12 deficiency (<150 ng/l). RESULTS: There was no significant difference between serum vitamin B12 levels in patients with Crohn's disease and those in patients with ulcerative colitis following end ileostomy formation. Two patients (5.1%) were identified as having vitamin B12 deficiency. One of these had had a panproctocolectomy for Crohn's disease, followed by subsequent resection for ileal obstruction and ongoing small intestinal disease. The other had had colectomy for ulcerative colitis, in whom no cause other than the ileostomy was found for the vitamin B12 deficiency. There was no significant correlation between serum vitamin B12 levels and duration of ileostomy overall or in the disease subgroups. CONCLUSION: We do not recommend routine screening for vitamin B12 deficiency in this group of patients unless they have undergone additional small bowel resection or have ongoing small bowel inflammation.