Peri-implant bone level changes in patients with stable periodontal conditions

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6-pyruvoyl-tetrahydropterin synthase deficiency: the clinical spectrum in 3 Chinese patients

OBJECTIVES: To describe the clinical characteristics of 3 patient with 6-pyruvoyltetrahydropterin synthase (PTPS) deficiency. METHODS: The medical notes of these patients were reviewed. The clinical and the biochemical features were described. RESULTS: The first two patients presented at 5 to 6 months old with episodes of prolonged eye staring and stiffening of the 4 limbs which lasted for 30 minutes to 1 hour. These could happen few times per week. They had global delay. The third patient, who was 19 years old, had an initial diagnosis of dyskinetic cerebral palsy, epilepsy and mental retardation. Physical examination revealed a fair skin complexion. There was intermittent dystonia and choreoathetosis involving all the 4 limbs. Blood for amino acid in these patients showed hyperphenylalanaemia. Tetrahydrobiopterin (BH4) loading showed complete normalization of plasma phenylalanine. Urine pterins showed decreased biopterin with normal to high neopterin. Cerebrospinal fluid analysis was low for biogenic amines including 5-hydroxyindoleacetic acid and homovanillic acid. All of them were diagnosed to have PTPS deficiency. 2 of them were confirmed by genetic testing and the result was pending for the third one. The first 2 patients' clinical symptoms and signs responded well to replacement of BH4, l-dopa and 5-hydroxytryptophan. The third patient was about to be started on treatment. CONCLUSION: In places without newborn screening for inborn error of metabolism like Hong Kong, early recognition of this potentially treatable neurological condition is crucial to improve the associated neurological morbidity.link_to_OA_fulltex

Actinomyces hongkongensis sp. nov. A Novel Actinomyces species Isolated from a Patient with Pelvic Actinomycosis

A bacterium was isolated from the pus of a patient with pelvic actinomycosis. The cells were strictly anaerobic, straight, non-sporulating, Gram-positive rods. It grows on sheep blood agar as non-haemolytic, pinpoint colonies after 24 hours of incubation at 37 °C in anaerobic environment. It is non-motile and does not produce catalase. 16S ribosomal RNA (rRNA) gene sequencing showed that there were 6.6% difference between the 16S rRNA gene sequence of the bacterium that of Actinomyces marimammalium (GenBank Accession no. AJ276405), a new species described in 2001, isolated from two seals and a porpoise. For these reasons a new species, Actinomyces hongkongensis sp. nov., is proposed, for which HKU8T is the type strain. Further studies should be performed to ascertain the potential of this bacterium to become an important cause of actinomycosis.link_to_subscribed_fulltex

A rare cause of hepatosplenomegaly - transaldolase deficiency

第十二届全国小儿神经学术会议Session - 08. Carbohydrates: no. 247-PLink_to_subscribed_fulltextThe 12th National Child Neurology Congress, Suzhou, China, 27-29 October 2007. In Journal of Inherited Metabolic Disease, 2007, v. 30, suppl. 1, p. 62, abstract no. 247-