A Case of Hb Aalborg (HBB: c.223G>C) with Chronic Obstructive Pulmonary Disease: A First Familial Presentation in Japan.

The proband was a male in his seventies who came to our facility because of shortness of breath. He was not anemic but presented dissociation between oxygen saturation (SpO2) and partial pressure of oxygen (PaO2) by blood gas analysis, and also demonstrated hemoglobinopathy after measurement of Hb A1c using high performance liquid chromatography (HPLC). Twenty-three percent of unknown hemoglobin (Hb) bands were detected. After sequencing the ß-globin gene, we noted a missense mutation at codon 74 (GGC>CGC) (Gly→Arg) of the ß-globin chain and he was diagnosed with Hb Aalborg (HBB: c.223G>C). One of the proband's siblings was diagnosed to have a low SpO2 level and also diagnosed to carry Hb Aalborg; she was also mildly anemic. This is the first known familial case of Hb Aalborg in Japan. In addition to Hb Aalborg, our case had underlying chronic obstructive pulmonary disease (COPD). Herein we present this case as a rare addition to the hematological literature.

Age-related changes in BDNF protein levels in human serum: differences between autism cases and normal controls.

Accumulating evidence suggests the possible association between the concentrations of serum brain-derived neurotrophic factor (BDNF) and psychiatric disease with impaired brain development. Yet the reasons remain unclear. We therefore investigated the characteristics of serum BDNF as well as its age-related changes in healthy controls in comparison to autism cases. BDNF was gradually released from platelets at 4 degrees C, reached a maximal concentration after around 24 h, and remained stable until 42 h. At room temperature, BDNF was found to be immediately degraded. Circadian changes, but not seasonal changes, were found in serum levels of BDNF existing as the mature form with a molecular mass of 14 kDa. In healthy controls, the serum BDNF concentration increased over the first several years, then slightly decreased after reaching the adult level. There were no sex differences between males and females. In the autism cases, mean levels were significantly lower in children 0-9 years old compared to teenagers or adults, or to age-matched healthy controls, indicating a delayed BDNF increase with development. In a separate study of adult rats, a circadian change in serum BDNF was found to be similar to that in the cortex, indicating a possible association with cortical functions.

Epilepsy in severe motor and intellectual disabilities syndrome (SMIDS)--a clinical and electroencephalographic study of epileptic syndromes.

The subjects were 106 SMIDS with epilepsy. They were classified into four epileptic syndromes: (1) SE-MISF (34.0%), (2) SGE (25.5%), (3) SLRE (20.7%), and (4) epileptic discharge-free patients (EDFP) (19.8%). Clinical electroencephalographic studies elucidated the following result: (1) The seizure disappearance rate was the highest in SLRE (54.5%), and it decreased in the order of EDFP (47.6%), SE-MISF (36.1%), and SGE (11.1%). (2) Status epilepticus was most frequently seen in SGE (62.4%), but it was not so often seen in EDFP (14.3%) or SLRE (22.7%). (3) The age at seizures onset was the lowest in SE-MISF (0.84 years), and it increased in the order of SLRE (1.3), SGE (2.3), and EDFP (6.7). (4) The rate of Ohshima's classification 1 was highest in SE-MISF (61.1%) and lowest in SGE (40.7%). In conclusion, epileptic syndrome and EEG findings are good indicators for predicting the seizure prognosis and some of the clinical features, and the majority of epileptic syndromes could be classified by the very first EEG findings. Since epilepsy in SMIDS is so frequent (70.3%) and intractable (seizure disappearance rate more than 3 years, 36.2%), more attention should be paid to electroencephalography and epileptic seizures in SMIDS.

Prognostic factors for epileptic seizures in severe motor and intellectual disabilities syndrome (SMIDS)--a clinical and electroencephalographic study.

PURPOSE: The purpose of this study is to examine prognostic factors for seizures in 106 epileptic patients with SMIDS. SUBJECTS AND METHODS: One-hundred-six epileptic patients with SMIDS were the subjects of this study. The study group consisted of 60 male and 46 female patients. The ages ranged from 4 to 61 years. They were all followed up for more than 4 years in our residential facility hospital "Kobato Gakuen". Fourteen possible prognostic factors were investigated statistically, and the validity is studied by factor analysis (principal component method). RESULTS: Statistically significant poor prognostic factors for epileptic seizures in SMIDS were (1) status epilepticus; (2) multifocal spikes (MFS) or Diffuse spike and waves (DSW) on final EEG; (3) symptomatic generalized epilepsy; (4) MFS or DSW on first EEG; (5) multi-antiepileptic drugs; (6) postnatal etiology; and (7) short duration of institutional hospitalization. As a result of factor analysis, the following five factors are elucidated: (1) Age/Time Passage; (2) Status epilepticus/Etiology; (3) Epileptic syndrome/EEG; (4) intensive medical care; and (5) Severity of Disabilities/Gender. CONCLUSION: Our findings indicate that intractability of epilepsy may be identified early in the course of the disease, even in SMIDS, and EEG and epileptic syndrome are the very important factors for predicting the seizure prognosis.