Time-course of motor inhibition during hypnotic paralysis: EEG topographical and source analysis.

Cognitive hypotheses of hypnotic phenomena have proposed that executive attentional systems may be either inhibited or overactivated to produce a selective alteration or disconnection of some mental operations. Recent brain imaging studies have reported changes in activity in both medial (anterior cingulate) and lateral (inferior) prefrontal areas during hypnotically induced paralysis, overlapping with areas associated with attentional control as well as inhibitory processes. To compare motor inhibition mechanisms responsible for paralysis during hypnosis and those recruited by voluntary inhibition, we used electroencephalography (EEG) to record brain activity during a modified bimanual Go-Nogo task, which was performed either in a normal baseline condition or during unilateral paralysis caused by hypnotic suggestion or by simulation (in two groups of participants, each tested once with both hands valid and once with unilateral paralysis).

Neural bases of hypoactive sexual desire disorder in women: an event-related FMRI study.

Introduction: Although there is an abundant debate regarding the mechanisms sustaining one of the most common sexual complaints among women, i.e., female hypoactive sexual desire disorder (HSDD), little remains known about the specific neural bases of this disorder.

The brain under self-control: modulation of inhibitory and monitoring cortical networks during hypnotic paralysis.

Brain mechanisms of hypnosis are poorly known. Cognitive accounts proposed that executive attentional systems may cause selective inhibition or disconnection of some mental operations. To assess motor and inhibitory brain circuits during hypnotic paralysis, we designed a go-no-go task while volunteers underwent functional magnetic resonance imaging (fMRI) in three conditions: normal state, hypnotic left-hand paralysis, and feigned paralysis.

Motor inhibition in hysterical conversion paralysis.

Brain mechanisms underlying hysterical conversion symptoms are still poorly known. Recent hypotheses suggested that activation of motor pathways might be suppressed by inhibitory signals based on particular emotional situations. To assess motor and inhibitory brain circuits during conversion paralysis, we designed a go-nogo task while a patient underwent functional magnetic resonance imaging (fMRI).

Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria.

Phenylketonuria (PKU) is an inherited metabolic disease characterized by phenylalanine (Phe) accumulation, which can lead to neurocognitive and neuromotor impairment. Sapropterin dihydrochloride, an FDA-approved synthetic formulation of tetrahydrobiopterin (6R-BH4, herein referred to as sapropterin) is effective in reducing plasma Phe concentrations in patients with hyperphenylalaninemia due to tetrahydrobiopterin (BH4)-responsive PKU, offering potential for improved metabolic control. Eighty patients, > or =8 years old, who had participated in a 6-week, randomized, placebo-controlled study of sapropterin, were enrolled in this 22-week, multicenter, open-label extension study comprising a 6-week forced dose-titration phase (5, 20, and 10 mg/kg/day of study drug consecutively for 2 weeks each), a 4-week dose-analysis phase (10 mg/kg/day), and a 12-week fixed-dose phase (patients received doses of 5, 10, or 20 mg/kg/day based on their plasma Phe concentrations during the dose titration).

Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

Objectives: To evaluate the safety and efficacy of weekly treatment with human recombinant N-acetylgalactosamine 4-sulfatase (rhASB) in humans with mucopolysaccharidosis type VI (MPS VI).

Study Design: An ongoing Phase I/II, randomized, two-dose, double-blind study. Patients were randomized to weekly infusions of either high (1.

Enzyme-replacement therapy in mucopolysaccharidosis I.

Background: Mucopolysaccharidosis I is a lysosomal storage disease caused by a deficiency of the enzyme alpha-L-iduronidase. We evaluated the effect of enzyme-replacement therapy with recombinant human alpha-L-iduronidase in patients with this disorder.

Methods: We treated 10 patients with mucopolysaccharidosis I (age, 5 to 22 years) with recombinant human alpha-L-iduronidase at a dose of 125,000 U per kilogram of body weight given intravenously once weekly for 52 weeks.

Three cases of intravenous sodium benzoate and sodium phenylacetate toxicity occurring in the treatment of acute hyperammonaemia.

Intravenous sodium benzoate and sodium phenylacetate have been used successfully in the treatment of acute hyperammonaemia in patients with urea cycle disorders. They provide alternative pathways for waste nitrogen disposal and help maintain nitrogen homeostasis. However, we report three patients with hyperammonaemia who received inappropriate doses of intravenous sodium benzoate and sodium phenylacetate that resulted in severe complications.

Cloning and mutational analysis of human malonyl-coenzyme A decarboxylase.

Malonyl coenzyme A (CoA) decarboxylase (E.C.4.

Transient organic aciduria and persistent lacticacidemia in a patient with short-chain acyl-coenzyme A dehydrogenase deficiency.

A neonate with signs of neurologic dysfunction was noted to have elevated blood lactic acid levels. Organic acid analysis revealed transient elevations in ethylmalonate, methylsuccinate, butyrylglycine, and butyrylcarnitine. Enzyme assay in cultured skin fibroblasts confirmed short-chain acyl coenzyme.

Multiple coagulation defects and the Cohen syndrome.

A 13-year-old male presented with new onset seizures, sagittal sinus thrombosis with cerebral hemorrhage, and extensive venous thrombosis of the lower limbs. Laboratory investigation demonstrated combined deficiency of protein C, protein S, and antithrombin III. He and his 17-year-old sister had a mental retardation-multiple anomaly syndrome associated with microcephaly, unusual facies, and lax connective tissue.

Inborn errors of metabolism.

Because of our knowledge of their biochemical bases, the inborn errors of their biochemical bases, the inborn errors of metabolism have been especially amenable to specifically designed modes of therapy.

Duplication 17q mosaicism: an infant with features of Ellis-van Creveld syndrome.

We describe an infant with multiple dysmorphic features who is mosaic for duplication 17q21.1----qter, owing to a direct tandem duplication. He is the first case with mosaicism for a 17q duplication to be reported.

Autosomal dominant transmission of ureteral triplication and bilateral amastia.

We report a case of ureteral triplication as part of an autosomal dominant syndrome comprising bilateral amastia, pectus excavatum, umbilical hernia, patent ductus arteriosus, dysmorphic low set ears, ptosis, epicanthic folds with an antimongoloid slant to the eyes, hypertelorism, high arched palate, flat broad nasal bridge, tapered digits, cubitus valgus and syndactyly.

Treatment of episodic hyperammonemia in children with inborn errors of urea synthesis.

Although normal plasma ammonium levels can be maintained in children with inborn errors of ureagenesis, these children are vulnerable to episodic hyperammonemia often resulting in coma and death. To treat such episodes, we designed a therapeutic protocol that included prompt recognition of hyperammonemia, therapy with intravenous sodium benzoate, sodium phenylacetate, and arginine, and nitrogen-free intravenous alimentation. Dialysis was performed if the hyperammonemia was unresponsive to drug therapy.

Carnitine deficiency presenting as familial cardiomyopathy: a treatable defect in carnitine transport.

We studied a boy who presented at age 3 1/2 years with cardiomegaly, a distinctive electrocardiogram, and a history of a brother dying with cardiomyopathy. From age 3 1/2 to 5 years, cardiac disease progressed, resulting in intractable congestive heart failure. Skeletal muscle weakness developed and a muscle biopsy showed lipid myopathy.

Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion.

Children with inborn errors of urea synthesis accumulate ammonium and other nitrogenous precursors of urea, leading to episodic coma and a high mortality rate. We used alternative pathways for the excretion of waste nitrogen as substitutes for the defective ureagenic pathways in 26 infants. These pathways involve synthesis and excretion of hippurate after sodium benzoate administration, and of citrulline and argininosuccinate after arginine supplementation.

Mechanism of acetate synthesis from CO2 by Clostridium acidiurici.

Total synthesis of acetate from CO2 by Clostridium acidiurici during fermentations of hypoxanthine has been shown to involve synthesis of glycine from methylenetetrahydrofolate, CO2, and NH3. The glycine is converted to serine by the addition of methylenetetrahydrofolate, and the resulting serine is converted to pyruvate, which is decarboxylated to form acetate. Since CO2 is converted to methylenetetrahydrofolate, both carbons of the acetate are derived from CO2.