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Pyridoxine-dependent epilepsy is a rare, autosomal recessive, treatable cause of neonatal seizures. Genetic testing can confirm mutations in the ALDH7A1 gene, which encodes antiquitin. To avoid delays in initiating treatment while awaiting confirmatory genetic testing, it is recommended that all neonates with unexplained seizures should receive trial of intravenous (IV) pyridoxine to assess for responsiveness. However, oral pyridoxine is not commonly continued in the absence of the typical EEG changes. Two cases are presented that highlight the potential inadequacy of this single-step approach. One neonate ultimately diagnosed with pyridoxine-dependent seizures had no EEG changes after administration of IV pyridoxine. In contrast, another neonate who did not have this diagnosis had profound EEG changes after pyridoxine administration. We present 2 cases that highlight the difficulties in using initial EEG response to IV pyridoxine in establishing a diagnosis of pyridoxine-dependent seizures in the neonate. Given the availability of biochemical markers and gene testing, we suggest that oral pyridoxine treatment should be continued until biochemical and/or genetic testing has confirmed the presence or absence of pyridoxine-dependent epilepsy.

This chapter is an attempt to highlight pediatric neurologic diseases that are either common, have common or unique ophthalmic manifestations, or have management concerns involving the eye, with special attention to eye findings. We discuss seizure disorders and the ophthalmologic side effects of antiepileptic medications, various forms of headaches with eye findings, central nervous system neoplasms and paraneoplastic syndromes, cerebral malformations, neuromuscular disorders, and demyelinating disorders.

A 13-year-old, right-handed boy was referred for movement and speech abnormalities. His mother reports his voice becoming soft and choppy at 8 years of age. Over the past year, he developed head jerking to the right while using his right hand. The patient denied a premonitory urge or ability to suppress these movements. They had become so disabling that he had to eat and write with his left hand. He has no other medical problems, other than a pectus excavatum. His family history is notable for his father being diagnosed with Tourette syndrome as a teen. His father continues to have episodic head jerking to the left at times. The patient's general examination was notable for an anxious teenager with marfanoid features including pectus excavatum and long limbs. The patient's neurologic examination revealed strained, choppy speech, which was present while speaking but not while singing. He had involuntary forced head turn to the right with right tilt and right upper extremity sustained twisting posturing when trying to use his right hand. He had right upper extremity fast jerking movements with attempts to use his right arm. His deep tendon reflexes were brisk, with crossed adductors. The remainder of his neurologic examination was normal. ### Question for consideration: 1. What type of movement is being described in the history? GO TO SECTION 2 Although his father had been diagnosed with Tourette syndrome, the patient's movements were neither suppressible nor preceded by an urge, which are the hallmarks of tics. The strained choppy voice was consistent with spasmodic dysphonia, a form of laryngeal dystonia. His forced head turn to the right and twisting posturing was consistent with cervical dystonia and limb dystonia, respectively. The jerking movements of his arm suggested a dystonic tremor vs myoclonus. On his initial examination it was difficult to differentiate between these 2 …

Perfluorosulfonic acid (PFSA) membranes have been used for 40 years as solid electrolytes in low temperature fuel cells and are considered from the scientific community superior to other polymeric products due to their good combination between chemical resistance and proton conductivity. In recent years, development of the class of PFSA membranes known as ‘short side chain’ membranes has been restarted from Solvay Solexis (Hyflon® Ion). Although PFSA are highly stable, still, decay in fuel cell performance might be detected over time due to membrane degradation, especially under certain working conditions. Different degradation mechanisms, mainly based on Nafion® structure, have been proposed by several Authors and both ex situ and in situ test protocols have been developed to perform accelerated testing. The generally accepted opinion is that the degradation problem is mostly related to peroxide radical attack. A short review of the degradation mechanisms is first presented in this work. For the first time a campaign of chemical degradation tests (open circuit voltage fuel cell operation and ex situ Fenton tests) on the short-side-chain PFSA is presented and discussed, both for standard extruded and chemical stabilized membranes.

The work presents an overview of the main properties of Hyflon® Ion perfluorosulfonic acid (PFSA) membranes for fuel cells in comparison with Nafion® PSFA membrane. The fuel cell performance of Hyflon® Ion‐based membrane electrode assemblies (MEAs) is reported at medium (75°C) and high (120°C) temperature, demonstrating extremely good power output. Remarkable durability (5000 h) of the Hyflon® Ion product is also demonstrated in high power output conditions. The conductivity and the hydrogen permeability of Hyflon® Ion extruded membranes is reported in sub‐freezing conditions (down to −40°C). The degradation of the short‐side‐chain ionomer is investigated utilizing both ex‐situ (Fenton) tests and fuel cell open circuit voltage tests. In the latter, the influence of the operating temperature on Hyflon® Ion degradation is not detectable in the range analysed (70°C–90°C). A better resistance to degradation of chemically stable Hyflon® Ion membranes (“S”‐grades) vs. standard membranes results from al...

Pancreatic injury after blunt abdominal trauma is exceedingly uncommon, occurring in less than 5 % of major abdominal injuries. When blunt pancreatic injury does occur, however, it is notoriously difficult to identify. The use of serum amylase has been advocated in the diagnosis of such injury, yet it is neither sensitive nor specific. Computed tomography has become widely accepted in the evaluation of hemodynamically stable patients after blunt abdominal trauma, although it is clearly not a sensitive modality for the detection of pancreatic injury. In fact, numerous examples of normal CT scans with missed pancreatic injury have been documented. However, careful attention to CT technique and awareness of the CT manifestations of pancreatic injury may facilitate the diagnosis of pancreatic injury. Additionally, important information about the pancreatic duct can be obtained with the use of MRI-pancreatography or endoscopic retrograde pancreatography. Accurate, timely identification of major pancreatic ductal injury is imperative because delay in diagnosis and associated vascular injuries are largely responsible for the high morbidity and mortality associated with blunt pancreatic trauma. Blunt pancreatic trauma can be managed successfully by means of both operative and selective approaches.

This report describes a patient who presented to our institution after a high-speed motor vehicle accident with an abnormal superior mediastinum as shown on supine chest radiograph. Helical computed tomographic aortography and thoracic aortography revealed the patient to have a pseudoaneurysm in a rarely encountered site, in the anterolateral region of the right brachiocephalic artery. The imaging features of this case and the relevant literature are reviewed.

Two different protocols for the mild and selective acetolysis of 6-deoxysugar methyl disaccharides under thermodynamic or kinetic control have been developed. The structures of the disaccharides obtained depend on the protocol used and, in the kinetically controlled cases, on the 6-deoxysugar configuration and protecting group pattern too. The behavior of 6-deoxyhexose oligosaccharides of different series (rhamno, quinovo, and fuco) under these two reaction conditions has been studied and rationalized based on the competition between exo versus endo oxygen activation in the acetolysis mechanism.

In the majority of cases, carcinoma of the thyroid presents as a cold nodule by radioiodine and Tc-99m sodium pertechnetate scintigraphy. Whereas the presence of a hot nodule usually implies a benign entity, it does not provide complete assurance against thyroid malignancy. Presented is a rare case of metastatic pure papillary thyroid carcinoma appearing as a hot nodule on Tc-99m sodium pertechnetate and I-123 sodium iodide scintigraphy. The implications of such a case, its management, and review of the pertinent literature are discussed.

to evaluate and characterize an incidentally found mass, to search for metastatic disease in a patient with a known malignancy, and to evaluate abnormal adrenal function. CT is the imaging technique of choice for the initial evaluation of the adrenal glands in adults. Sonography is used in children. The adrenal glands reside within Gerota’s fascia. They are composed of two independent functional components, the cortex and medulla

Short-side-chain Hyflon® perfluorinated ionomer based membrane was investigated as electrolyte for high temperature direct methanol fuel cells. A fuel cell performance approaching 300 mW cm–2 was achieved at 140°C in the presence of 1M methanol and air feed. Stable electrochemical performance was achieved indicating suitable perspective for high temperature operation of Hyflon® membrane.

Winged helix transcription factors contain two polypeptide loops, or "wings," that make minor groove contacts with DNA from either side of a three-helix bundle that binds the DNA major groove. While wing 1 is stabilized by a beta-sheet, parameters that stabilize wing 2 are unknown. Herein we identify two bulky aromatic residues in wing 2 that stabilize the loop structure and, thereby, the entire protein's DNA binding and transcriptional stimulatory activity by interacting with other residues in the three-helix bundle. Mutations of these wing 2 residues create proteins that are temperature-sensitive for transcriptional activity. Aromatic and/or hydrophobic residues are highly conserved among the 150 known winged helix proteins, suggesting conserved function. We suggest that the winged helix structure evolved by the acquisition of aromatic and/or hydrophobic residues in distal polypeptide sequences that helped stabilize the association of a protein loop (wing 2) with the three-helix bundle, thereby enhancing DNA binding.

Splenogonadal fusion is a rare developmental anomaly usually presenting as a scrotal mass. The imaging findings and etiology of this condition are discussed. Knowledge of this entity may help to prevent unnecessary orchiectomy.

Castleman disease, or angiofollicullar hyperplasia, is a rare cause of lymph node enlargement. This most commonly occurs within the thorax, although rare extrathoracic presentations have been described. Only two cases with hepatic localization have been reported. We present a case of Castleman disease within the porta hepatis masquerading as a hepatic neoplasm.

A fully-elliptic three dimensional computational fluid dynamic (CFD) code based on pressure-correction techniques has been used in the design of an advanced turbine single annular reverse-flow combustor (AR1600) under development at Alfa Romeo Avio (ARA). Fuel injection was handled using a Lagrangian liquid droplet spray model coupled to the gas phase equations, which are solved in an Eulerian frame of reference. Turbulent transport is described by the standard k-ε model. The combustion model utilizes a conserved scalar formulation and an assumed shape probability density function to account for chemistry-turbulence interaction. The numerical algorithm employs structured nonorthogonal curvilinear grids, node-centered variable arrangement and Cartesian velocity components. The code was validated on a similar combustor (AR318 turboprop engine of 600 SHP). The numerical results agree well with the test measurements available for this chamber. The aerothermal design of AR1600 (1600K exit temperature) has the same gemetrical constraints of AR318 (tip and root diameters for compressor outlet and turbine inlet), but the lenght is shorter to reduce surface area for less cooling and to utilize the excess air for more efficient mixing and combustion.

Trigger points in chronic pain and myofascial syndromes are often localized at a distance from the painful area. Infiltration of trigger points with Bupivacaine 0.5% greatly reduces pain and can eliminate it with no need of any other analgesic therapy.

A multicentre trial was carried out in Italy with the aim of comparing the efficacy, safety and tolerability of the oral administration of fluconazole with the oral administration of ketoconazole in the treatment of patients affected by Candida vulvovaginitis. A total of 174 patients with symptomatic Candida vulvovaginitis were identified both by objective examination and cell culture tests: of these 87 were treated using a single oral administration of fluconazole (150 mg) whereas the other 87 received 2 200 mg capsules of ketoconazole daily for 5 days. Tests to assess the efficacy, safety and tolerability of both treatments were carried out approximately 7 days and 5-6 weeks from the start of therapy. The results obtained showed a success rate of 92% for fluconazole-treated patients and 83% for those treated with ketoconazole. In addition to the rapid and safe efficacy of treatment, the most important findings which emerged from this study were the extreme simplicity of use, excellent patient compliance and the complete absence of collateral effects of variations in the hematochemical and urine parameters taken into consideration caused by fluconazole.

Forty patients aged 65-80 with minor-medium signs of brain aging were treated for 6 months with daily 90 mg doses of nimodipine. Treatment was well tolerated in that the minor side effects reported by a few of the patients never required withdrawal of the drug. Treatment proved useful, as shown by a variety of mental tests, in 69.5% of cases. In 20% conditions remained unchanged and in 9.5% further deterioration was observed. The authors conclude that nimodipine may be considered a useful therapeutic resource for phenomena of brain aging.

The paper reports two cases of simultaneous endometrial carcinoma and endometrioid carcinoma of the ovary. The clinical and pathological characteristics are examined. Both patients underwent radical surgery with an intraoperative examination for metastatic involvement of the lumbo-aortic, iliac and infundibulo-ovarian lymphonodes. Surgery was followed by antiblastic (cisplatin, adriamycin, cyclophosphamide), hormonal (progestogens) and immuno-modulating (thymostimulin treatment). The two patients (respectively approximately 10 and 7 years after the operation) both enjoy good health.

A case of vulvar carcinoma arising from Bartholin's gland is described. At admission the patient showed a large suppurated swelling of the left labium maior. The neoformation reached the groin of the same side. Malignant cells were detected in biopsy specimens of both the vulvar swelling and the lymphonodes. The histological test showed a vulvar carcinoma arising from Bartholin's gland. The vulvar swelling and the ulcerated lesion were removed and the patient was treated with radiotherapy, chemotherapy (bleomicina) and immunomodulant therapy (Timostimoline). Pulmonary methastases were detected eighteen months after the operation and the patient died two years later.

In a random trial on 40 patients undergoing extraction of the third lower molar 0.125 mg of triazolam were administered sublingually to 20 patients and placebo (lactulose solution 66.7%) to 20 patients. The sedative and amnesic effect rapidly appeared after triazolam while the anxiolytic effect was less pronounced. The recovery of psychomotor functions measured by standard psychomotor tests occurred rapidly and all patients were discharged after about 120 min from the end of the surgery. The judgment of the surgeon was positive as far as the anxiolytic and relaxing effects of triazolam was concerned. The patients treated with triazolam moreover appreciated the sedation induced by the drug. No cardiocirculatory complication was observed and the patients showed a considerable stability from the circulatory stand point. The results show that triazolam may represent a safe alternative to the use of other anxiolytic and sedative drugs in the minor surgery of the oral cavity.

Solar cooling technologies are of great interest because the cooling load in buildings is directly correlated to the intensity of solar radiation. In this paper, a feasibility study of a solar cooling system for a cold room in the Southern part of Italy is carried out. This feasibility study can be an example for future achievements in Southern of Italy. The cold room is part of an agro-industrial structure; the set point of temperature is 10°C. The room is 11.0 m long, 9.5 m wide and 3.5 m high. Two sliding doors 3.0 m high are present and strawberries are inside mainly. Thermal loads are evaluated by means of the software TRNSYS 17. Parabolic Though Collectors (PTCs) are employed to capture the solar energy. The solar field extends for 210 m2. Two double-effect chillers (with a total installed power equal to 150 kW) for the collectors are employed. In addition, a conventional heat pump is installed to meet the demand for refrigeration during unfavorable weather conditions or during the maintenance of chillers. There are two different storage tanks: a tank with volume 10 m3 for hot water storage and a tank with volume 40 m3 for cold storage. The terminal part is constituted by dry coolers. Results are given in terms of heat transfer rates and solar fraction. Besides, an economic analysis is carried out to evaluate the payback time.

Carotid-cavernous fistulas are abnormal arteriovenous communications either directly between the internal carotid artery and the cavernous sinus or between the dural branches of the internal and external carotid arteries. These fistulas predominantly present with ocular manifestations and they are treated mainly by endovascular techniques in most cases. A detailed review of the literature allowed us to make a complete analysis of the information available on the topic. We describe a case of a direct carotid-cavernous fistula occluded by endovascular implantation of a covered stent, showing the persistence of results after three years.