Pediatric Teleneurology: A Model of Epilepsy Care for Rural Populations.

Background: Approximately 2.7 million individuals in the United States are affected by epilepsy. It is the fourth most common neurological disorder and affects people of all ages, races, and economic backgrounds.

Clara Maass, yellow fever and human experimentation.

Clara Louise Maass, a 25-year-old American nurse, died of yellow fever on August 24, 1901, following experimental inoculation by infected mosquitoes in Havana, Cuba. The human yellow fever experiments were initially conducted by MAJ Walter Reed, who first used written informed consent and proved the validity of Finlay's mosquito-vector hypothesis. Despite informed consent form and an incentive of $100 in U.

Cooling and hemodynamic management in heatstroke: practical recommendations.

Introduction: Although rapid cooling and management of circulatory failure are crucial to the prevention of irreversible tissue damage and death in heatstroke, the evidence supporting the optimal cooling method and hemodynamic management has yet to be established.

Methods: A systematic review of all clinical studies published in Medline (1966 to 2006), CINAHL (Cumulative Index to Nursing & Allied Health Literature) (1982 to 2006), and Cochrane Database was performed using the OVID interface without language restriction. Search terms included heatstroke, sunstroke, and heat stress disorders.

Carlos Finlay and yellow fever: triumph over adversity.

The eradication of yellow fever in Havana, Cuba, was achieved by a fruitful collaboration between American and Cuban physicians. Carlos Finlay, a Cuban physician who proposed the mosquito-vector theory in 1881, shared his ideas, his publications, and a sample of mosquito eggs with the U.S.

A pediatric neurologist's clinical experiences in Saudi Arabia.

From 1996 to 2002, I was head of a pediatric neurology section and helped develop a fellowship training program in Saudi Arabia. This was a most rewarding learning experience because of an abundance of neurometabolic and neurodegenerative diseases in a population with a high rate of consanguinity. In addition to inborn errors of metabolism, other prevalent disorders included late-infantile neuronal ceroid-lipofuscinosis, hyperekplexia, focal cortical dysplasias, sarcoglycanopathies, familial spastic paraplegia, demyelinating diseases, and dysmorphic syndromes.

[Diet therapy in the treatment of neuropediatric disorders].

Objectives: This review focuses on the dietary treatment of four neuropediatric disorders: 1) X-linked adrenoleukodystrophy (X-ALD); 2) attention deficit disorders (ADD); 3) refractory epilepsy; and 4) inborn errors of metabolism.

Development: The use of Lorenzo's oil in the treatment of X-ALD has been controversial since no clear efficacy has been demonstrated because of a lack of controlled studies. Although this treatment normalizes the levels of very-long chain fatty acids in children with the cerebral form of X-ALD, the neurological symptoms persist or progress.

Deletion mutations in the dystrophin gene of Saudi patients with Duchenne and Becker muscular dystrophy.

Objective: The deletion in the dystrophin gene has been reported for many ethnic groups, but until now the mutations in this gene have not been thoroughly investigated in Saudi patients with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). We examined the deletion pattern in the dystrophin gene of the Saudi patients applying multiplex-polymerase chain reaction (PCR). The aim of this study is to describe the outcome of our initial effort to identify mutations in the dystrophin gene in a representative group of Saudi patients with DMD and BMD.

Treatment of status epilepticus in children.

Status epilepticus is a medical emergency that requires prompt recognition and urgent treatment. Successful management of status epilepticus in children depends upon implementation of a treatment protocol modified according to current practices as well as availability of antiepileptic medications, out of hospital emergency services and intensive-care facilities. We propose a treatment protocol for status epilepticus in children in the Kingdom of Saudi Arabia.

Treatment of status epilepticus in children.

Status epilepticus is a medical emergency that requires prompt recognition and urgent treatment. Successful management of status epilepticus in children depends upon implementation of a treatment protocol modified according to current practices as well as availability of antiepileptic medications, out of hospital emergency services and intensive-care facilities. We propose a treatment protocol for status epilepticus in children in the Kingdom of Saudi Arabia.

[Genetic encephalopathies in a newborn].

The clinical manifestations of neonatal encephalopathies lack specificity and may present with predominantly seizures, hypotonia or coma. We have selected several examples of neonatal encephalopathies which are of special interest because of their genetic origin and present their clinical features, typical course and, when available, treatment.

The cost of running American city hospitals: the Gorgas 1910 survey.

Background: COL William C. Gorgas was appointed Chief Sanitary Officer of the Isthmian Canal Commission during construction of the Panama Canal (1904-1914). In 1910, Gorgas sought to determine the administrative and operating costs of major metropolitan hospitals in the United States and compare these with similar costs in the Canal Zone hospitals.

X-linked adrenoleukodystrophy. The Saudi experience.

Objective: To evaluate the clinical, biochemical, neuroradiological, and neurophysiological findings of patients with X-linked adrenoleukodystrophy.

Methods: Retrospective study evaluating the data of 10 X-linked adrenoleukodystrophy patients diagnosed at King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

Results: The common presenting symptoms were deterioration in school performance, vision and hearing, behavioral changes, and seizures.

Hyperpipecolic acidemia: clinical, biochemical, and radiologic observations.

Pipecolic acid is a biochemical marker frequently detected in group 1 peroxisomal disorders (peroxisomal biogenesis disorders). Its presence, in addition to the constellation of particular phenotypic manifestations and pathologic findings, has led to its recent classification under disorders of peroxisomal biogenesis as a separate disease entity (hyperpipecolic acidemia or hyperpipecolatemia). The clinical, biochemical, and radiologic findings observed in three patients diagnosed with hyperpipecolic acidemia are reported.

Ancon Hospital: an American Hospital during the construction of the Panama Canal, 1904-1914.

The control of yellow fever, malaria, and other tropical diseases was essential for the successful completion of the Panama Canal. COL William C. Gorgas, Chief Sanitary Officer, found Ancon Hospital quite satisfactory as a site from which to direct his sanitation efforts.

Pseudotumor cerebri and leukoencephalopathy in childhood lupus.

We describe an adolescent with systemic lupus erythematosus (SLE) and pseudotumor cerebri (PTC) associated with diffuse white matter lesions (leukoencephalopathy) on neuroimaging studies. Although the association between SLE and PTC has been reported previously in 21 cases, the findings of leukoencephalopathy is known in only one other patient.

[Clinical features of the peroxisomal disorders].

The peroxisomal disorders belong to a group of inborn errors of metabolism due to malformation or malfunction of these subcellular organelles. Their clinical features vary with age. However, the commonest form presents in the syndrome of Zellweger with severe hypotonia, craniofacial dysmorphism, stippled calcifications, renal cortical cysts and liver dysfunction.

Paroxysmal torticollis.

An infant with recurrent episodes of torticollis lasting several hours at a time is presented. The diagnosis is primarily one of pattern recognition and exclusion of alternative diagnoses.

Failure to thrive, hepatic dysfunction, hypotonia, and cerebellar atrophy.

A 2-year-old with cerebrellar and gastrointestinal difficulties is presented. The differential diagnosis of this combination of clinical features is difficult but recently several of the conditions under consideration have been more precisely characterized from a molecular standpoint.

Progressive degenerative disorder of the central nervous system.

The child with a deteriorating course is a regular if not common clinical problem for the child neurologist. An apparent plateau in the course can often be confusing if the focus is limited to the current visit. With the explosion of information and understanding of molecular genetics, failure to recognize the presence of a degenerative disease may have significant consequences for the family of the patient and possibly the patient as well.

Detection of inherited neurometabolic disorders. A practical clinical approach.

The most common neurometabolic disorders to be considered are organic acidurias and amino acid apathies followed by urea cycle disorders, congenital lactic acidosis, peroxisomal disorders, and, less frequently, sphingolipidoses, mucopolysaccharidoses, glycoprotein degradation disorders, fatty acid oxidation disorders, and neuronal ceroid lipofuscinoses.

Hemorrhagic shock and encephalopathy. Clinical definition of a catastrophic syndrome in infants.

We treated nine infants who unexpectedly developed shock, seizures, and fever, followed by diarrhea, consumption coagulopathy, and hepatorenal dysfunction. Despite vigorous treatment, three infants died and all except one of the six survivors have severe residual neurologic abnormalities. Postmortem findings included cerebral edema, white matter petechial hemorrhages, gastrointestinal hemorrhages, and fatty liver.

Sjögren-Larsson syndrome: inherited defect in the fatty alcohol cycle.

We investigated fatty alcohol metabolism in eight patients with Sjögren-Larsson syndrome, and in nine obligate heterozygotes. Fatty alcohol: nicotinamide-adenine dinucleotide oxidoreductase (FAO) activity was deficient in cultured skin fibroblasts (mean 18% of normal, n = 8) and peripheral blood leukocytes (mean 22% of normal, n = 3) from patients with Sjögren-Larsson syndrome. The palmitoyl coenzyme A-inhibitable component of FAO activity was decreased to 10% and 15% of normal in fibroblasts and leukocytes, respectively, of patients with Sjögren-Larsson syndrome.