A case of perinatal hypophosphatasia with a novel mutation in the gene: clinical course and review of the literature.

Hypophosphatasia (HPP) is a metabolic bone disease characterized by failure of bone calcification and vitamin B6 dependent seizures. It is caused by loss-of-function mutations in the gene. A newborn girl required respiratory support by nasal-directional positive airway pressure at birth, and pyridoxine hydrochloride administration for vitamin B6-dependent seizures observed from day two.

Final adult height in long-term growth hormone-treated achondroplasia patients.

Unlabelled: The objective of this study was to evaluate the gain in final height of achondroplasia (ACH) patients with long-term growth hormone (GH) treatment. We analyzed medical data of 22 adult patients (8 males and 14 females) treated with GH at a dose of 0.05 mg/kg/day.

[Attempt of differentiation acute encephalopathy with febrile convulsive status epilepticus from febrile convulsive status epilepticus induced by human herpesvirus 6 at early stage].

It is difficult for clinicians to predict the subsequent development of acute encephalopathy with febrile convulsive status epilepticus (AEFCSE), when febrile convulsive status epilepticus (FCSE) develops. Comparing clinical and laboratory characteristics between patients with AEFCSE and those with FCSE, we investigated the factors which predict the later development of febrile convulsive status caused by HHV6. The subjects of this study were patients treated for FCSE or AEFCSE due to HHV6 in our hospital between April 2004 and January 2008.

[Neuroradiological findings in the acute stage of influenza encephalopathy].

Influenza encephalopathy(IE) is characterized by its high incidence in Japanese children between 1 year and 5 years of age, its onset in the first or the second day of illness and its high mortality (15-30%) and morbidity (25-40%). We proposed the classification of IE with poor prognosis from the neuroradiological findings. Four types of encephalopathy seem to be differentiated from each other, 1.

Good or poor responses of hemostatic molecular markers in patients with hematopoietic disorders after treatment of disseminated intravascular coagulation.

Changes of hemostatic markers in 226 patients with disseminated intravascular coagulation (DIC) and hematopoietic disorders were examined after treatment of DIC. The changes in prothrombin time (PT) ratio, fibrinogen, fibrin and fibrinogen degradation products (FDP), antithrombin, and protein C, thrombin-antithrombin complex (TAT), plasmin-plasmin inhibitor complex (PPIC), and soluble fibrin monomer complex (SFMC) in all patients with DIC were significant during the clinical course of DIC, but those of D-dimer, thrombomodulin (TM), tissue factor (TF), and tissue factor pathway inhibitor (TFPI) were not. Activated partial thromboplastin time (aPTT) and PT were significantly longer in the poor response group than in good response group.