Sleep-related problems in neurologic diseases.

There is a strong association between sleep-related problems and neurologic diseases. Neurologic diseases of the CNS can directly cause sleep problems when sleep-wake mechanisms associated with the ascending reticular activating system are involved. The major sleep disorders associated with neurologic problems are outlined in the International Classification of Sleep Disorders, 2nd edition, as hypersomnias of central origin, sleep-related breathing disorders, the insomnias, circadian rhythm sleep disorders, sleep-related movement disorders, parasomnias, and sleep-related epilepsy. In a patient with CNS disease and excessive sleepiness, sleep-related breathing disorders should be a first concern, given the known association between obstructive sleep apnea (OSA) and cerebrovascular disease and the potential confounding effects that OSA might have on an otherwise compromised ischemic CNS penumbra. A basic knowledge of the anatomy and physiology of the sleep-wake mechanisms provides a rationale for pharmacologic intervention. Nonpharmacologic treatments are also important, especially when sleep-related breathing disorders are a concern. In addition, as patients with neurologic diseases are often prone to the adverse effects of many medications, the specific treatment regimen for any given individual should always include good sleep hygiene practices that use cognitive behavioral therapy.

The earliest behavioral expression of focal damage to human prefrontal cortex.

Damage to the prefrontal cortex in childhood can produce long-term impairments of emotion, behavior regulation, and executive functions, but little is known regarding the earliest expression of these impairments. We describe here detailed behavioral studies of a boy at 14 months of age ('PF1') who sustained focal damage in the right inferior dorsolateral prefrontal cortex due to resection of a vascular malformation on day 3 of life. The surgery was followed by a good medical recovery, and he reached developmental milestones at a normal rate. His neurological examination was normal, as were his mother's ratings of communication abilities, daily living skills, socialization, and motor skills. Multiple standardized laboratory paradigms were used to evaluate his behavior in structured and relatively unstructured situations designed to elicit positive and negative emotions and to place demands on attention. Relative to a comparison group of 50 age-matched boys with no neurological history, PF1 demonstrated significant impairments in the regulation of emotion and engagement of attention, particularly in unstructured conditions. These findings indicate that damage to prefrontal cortex in infancy begins to impact on emotional and cognitive development already during the first months of life.

Clinical characteristics of childhood-onset (juvenile) Huntington disease: report of 12 patients and review of the literature.

Whereas adult-onset Huntington disease is a well-characterized clinical entity, childhood-onset cases have not received as much attention. In this report, the clinical, demographic, and genetic characteristics in 12 patients with childhood-onset Huntington disease are presented and compared with data in the literature. The patients were divided into two groups based on age at onset of symptoms (< 10 or > or = 10 years old). The majority of patients had onset of symptoms before 10 years of age and most at or below 5 years of age. The delay in diagnosis was longer in those with earlier onset of symptoms. Inheritance was paternal in all patients with onset beyond 10 years of age. We found a preponderance of male patients in the younger age at onset group and of female patients in the older age at onset group. The most frequent heralding symptom was cognitive decline in the group with earlier onset and oropharyngeal dysfunction in the later-onset group. Seizures occurred only in the younger age at onset group. Chorea was not a presenting sign but developed later in the course of the disease and, with dystonia, was more prevalent in the early age at onset group, whereas rigidity and bradykinesia were more prevalent in the older age at onset group. Patients in both groups developed gait, cognitive, and behavioral disorders at some point during the course of the disease. Furthermore, a slow and steady decline in IQ was observed on serial neuropsychologic testing in patients from both groups. Imaging studies were normal early and most commonly revealed neostriatal atrophy later in the course of the disease. In this report, we describe the characteristics of 12 patients with childhood-onset Huntington disease and review those previously reported, expanding our knowledge about the features of childhood-onset Huntington disease, underlining the differences with patients with adult-onset Huntington disease, and suggesting a differential phenotype within patients with childhood-onset Huntington disease depending on the age at onset.

Pattern of renal diseases among elderly Egyptians patients with acute or chronic renal diseases in Ain Shams University and Nasser Institute Hospitals, Cairo, Egypt.

This study among elderly renal Egyptian patients (n=220) with only 20 of them were subjected to renal biopsy. Results showed: diabetic nephropathy in 28.2%, hypertensive nephrosclerosis 25.5%, UTI, cystitis and pyelonephritis in 6.8%, renal stones in 5.9%, obstructive uropathy in 7.6%, simple cysts in 4.5%, CRF of unknown origin in 13.1%, and others in 26.4%. DM and HTN were S related to kidney function tests and increase in elderly. Other cardiovascular risk factors and smoking are reported by previous workers to be HS related to renal diseases. Age was significantly related to GFR, BUN and Cr. but sex difference was not significantly related to renal diseases. Multiple myeloma, lupus nephritis, vasculitis and hepatitis B were all recorded in few numbers of elderly Egyptians. HCV was more common and more likely to cause renal diseases. Abdomino-pelvic ultrasound was confirmatory to clinical renal diseases diagnosis. Among patients (n=20) biopsies showed focal necrotizing GN in 20%, membranous nephropathy in 50% and renal amyloidosis in 30%. CTIN was associated in some cases due to NSAID intake. Analgesic nephropathy was a common problem that might lead to ARF in some cases especially in the elderly. Ultrasound results among the biopsy group were confirmatory to clinical diagnosis.

Hyperphosphatemia among end-stage renal disease patients in developing countries: a forgotten issue?

The prevalence of hyperphosphatemia and increased calcium-phosphorus product has never been evaluated in a large multicenter study in a developing country. Our aim is to study the prevalence of hyperphosphatemia in 38 HD centers in Egypt (as an example of a developing country) and to correlate it with different co-morbid conditions and the patient's demographic data. This is a cross-sectional study conducted on 1005 chronic kidney disease stage 5 patients (CKD-stage 5) on HD for a period of more than 1 year in 38 dialysis centers in Egypt. All patients were receiving calcium-based salts as a phosphate binder. Hyperphosphatemia and increased calcium-phosphorus product were evaluated and correlated with different parameters including age, sex, knowledge by diet parameters, HD session duration, the frequency of HD per week, the type of dialysis membrane, the surface area of the dialyzer, dialyzer phosphorus clearance (phosphorus KoA), and the type of dialysate. Other co-morbid medical conditions and evidence of IHD were also investigated. Hyperphosphatemia was present in 69.1% of cases and a high calcium-phosphorus product was present in 30.2%. A higher calcium-phosphorus product was found among males. 83.2% of those with a poor knowledge by diet parameters had hyperphosphatemia compared with 67.6% in patients with a satisfactory knowledge by diet parameters. 72.3% of patients using a membrane with low-to-medium clearance had hyperphosphatemia, compared with 67.2% using a membrane with a high clearance. Seventy-two percent of patients with IHD were hyperphosphatemic compared with 67.6% of the non-ischemic patients. Hyperphosphatemia is a major problem in dialysis patients in developing countries, reflecting differences from developed countries regarding dietary habits, ethnic factors, dialysis quality, types of dialysis membranes, as well as economic factors hampering the use of the more expensive phosphate binders. Extended dialysis hours may be a good alternative solution in developing countries.

Myasthenia gravis from Thomas Willis to the present.

The history of the development of knowledge of myasthenia gravis is reviewed. Clinical profiles of the immune and non-immune mediated forms of myasthenia are discussed. The current theory of pathogenesis is reviewed. Tests used to diagnose myasthenia gravis, and their comparative diagnostic yields are presented. Past and current modalities of treatment are reviewed. Future therapeutic strategies are introduced. The roles of the thymus and thymectomy in the genesis and treatment of myasthenia gravis are discussed.

Effects of smoking and lead exposure on proximal tubular integrity among Egyptian industrial workers.

BACKGROUND: The hazards of occupational lead exposure are well documented. Tissue damage produced by lead is slow and progressive. The renal system is one of the systems primarily affected by lead. The present study aimed to evaluate renal proximal tubular functional and structural integrity among lead-exposed and cigarette-smoking male Egyptian workers. This study was extended to investigate the effect of lead exposure and cigarette smoking on urinary excretion of copper (Cu) and zinc (Zn). METHODS: Participants included in the present study were 156 male workers grouped as follows: i) 75 lead non-exposed workers subgrouped into G1 that consisted of 36 non-smokers (age, 39.08+/-6.65 years) and G2, which included 39 smokers (age, 43.87+/-9.93 years); ii) 45 lead-exposed workers (work duration <20 years) subgrouped into G3 that consisted of 25 non-smokers (age, 37.40+/-3.76 years) and G4, which included 20 smokers (age, 38.40+/-4.95 years), and iii) 36 lead-exposed workers (work duration > or =20 years) subgrouped into G5 that consisted of 16 non-smokers (age, 45.94+/-4.19 years) and G6 which included 20 smokers (age, 45.70+/-2.25 years). Functional integrity of proximal tubules was studied by determining urinary level of low-molecular-weight protein alpha1-microglobulin (alpha1M), and structural integrity was investigated by measuring urinary activities of the lysosomal enzyme N-acetyl-beta-D-glucosaminidase (NAG) and the cytoplasmic enzyme glutathione S-transferase (GST). Urinary concentrations of Pb, Cu, Zn, and creatinine were also determined. RESULTS: Data of the present investigation showed increased urinary excretion of all measured urinary parameters among lead-exposed workers in comparison with non-exposed workers whether they were non-smokers or smokers (G3 vs. G1, G5 vs. G1, G4 vs. G2, and G6 vs. G2), with greater elevation among lead-exposed smokers than among lead-exposed non-smokers (G4 vs. G3, G6 vs. G5). In addition, there was a greater increase in levels of all urinary parameters among workers with work duration > or =20 years than in those with <20 years' work duration (G6 vs. G4, G5 vs. G3). CONCLUSIONS: Lead exposure in Egyptian workers causes damage to renal proximal tubules and results in its dysfunction. Cigarette smoking has a nephrotoxic effect and also is synergistic to lead nephrotoxicity on urinary excretion of GST and NAG, as well as Pb.

The basal ganglia: a neural network with more than motor function.

The basal ganglia is a group of subcortical nuclei involved in motor control, cognition, and emotion. Basal ganglia disorders are manifested by abnormal movement and a number of neuropsychiatric disorders. Basal ganglia nuclei are organized into sensorimotor, associative, and limbic territories based on their connectivity and function. The caudate nucleus, putamen, and subthalamic nucleus comprise the input nuclei of the basal ganglia. The internal segment of globus pallidus and substantia nigra reticulata are the output nuclei. The input and output nuclei are interconnected by direct and indirect pathways. The cerebral cortex, basal ganglia, and thalamus communicate with each other via closed (segregated) parallel as well as open (split) loops. Recent anatomic, functional, and clinical data have necessitated modifications in the classical models of local connectivity between input and output nuclei of the basal ganglia as well as in the corticobasal ganglia-thalamus-cortical loops.

Chickenpox and the geniculate ganglion: facial nerve palsy, Ramsay Hunt syndrome and acyclovir treatment.

Facial nerve palsy has long been considered to have an infectious etiology. Recent diagnostic analyses in children and adults have provided convincing evidence that reactivation of varicella-zoster virus (VZV), sometimes during infectious mononucleosis, can lead to cranial nerve VII palsy. The site of reactivation from latency is the geniculate ganglion. Virus most likely enters the ganglion during chickenpox, via the sensory branches of the facial nerve located on the ear and tongue. Retrospective reviews suggest that patients with VZV-related facial nerve palsy have poorer outcomes than other cases of Bell's palsy. Therefore treatment with acyclovir is suggested when VZV reactivation i slikely.

Renal osteodystrophy in developing countries.

There are distinct differences between developing and developed countries regarding the pathogenesis and management of renal osteodystrophy. Such differences are due to ethnic factors, dialysis quality, types of membranes, dialysate water, lack of technical facilities to perform bone biopsies, beta2-microglobulin, aluminium and strontium toxicity, and iron overload as well as economic factors hampering the use of effective yet more expensive phosphate binders and active vitamin D. The prevalence of renal osteodystrophy in developing countries is higher than in developed countries. It ranges from 24.4% to 63%. Aluminium related bone disease is a common cause. High strontium levels and iron overload in developing countries play a major role in the development of renal bone disease among dialysis patients.

Childhood-onset chronic inflammatory demyelinating polyradiculoneuropathy with cranial nerve involvement.

A 17-year-old male presented with chronic diplopia and generalized motor weakness. He was previously diagnosed with chronic inflammatory demyelinating polyradiculoneuropathy and acute disseminated encephalomyelitis in childhood. Cranial magnetic resonance imaging (MRI) revealed a rarely reported finding of thickening and enhancement of multiple cranial nerves. Nerve conduction studies and electromyography showed peripheral nerve demyelination with axonal involvement. There was improvement in the clinical examination, MRI, and electrophysiologic studies after combined corticosteroid and plasma exchange therapy. We review the clinical presentation, course, and response to therapy among children with chronic inflammatory demyelinating polyradiculoneuropathy, with specific emphasis on the frequency and pattern of cranial nerve involvement.

Management of Pre-end Stage Renal Failure in Egypt.

A specially designed questionnaire was used to explore the predominant trends of pre-end stage renal failure in Egypt. A random sample of 47 physicians dealing with such patients was chosen to fill the questionnaire during a recent scientific gathering. They were of different ages, qualifications, years of experience and health-care disciplines. Collected data were entered into a computer database and subjected to statistical analysis and correlation with relevant physicians backgrounds. The study shows that the Egyptian trends are generally conforming to respective international recommendations; major deviations being largely the result of economical shortcomings. There was no significant impact of physician-related factors on patient management trends.