A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation

Rett syndrome (RTT) is a severe neurodevelopmental disorder typically affecting females. It is mainly caused by loss‐of‐function mutations that affect the coding sequence of exon 3 or 4 of methyl‐CpG‐binding protein 2 (MECP2). Severe neonatal encephalopathy resulting in death before the age of 2 years is the most common phenotype observed in males affected by a pathogenic MECP2 variant. Mutations in MECP2 exon 1 affecting the MeCP2_e1 isoform are relatively rare causes of RTT in females, and only one case of a male patient with MECP2‐related severe neonatal encephalopathy caused by a mutation in MECP2 exon 1 has been reported. This is the first reported case of a male with classic RTT caused by a 5‐bp duplication in the open‐reading frame of MECP2 exon 1 (NM_001110792.1:c.23_27dup) that introduced a premature stop codon [p.(Ser10Argfs*36)] in the MeCP2_e1 isoform, which has been reported in one female patient with classic RTT. Therefore, both males and females displaying at least some type of MeCP2_e1 mutation may exhibit the classic RTT phenotype.

     

Simple method to make a supersaturated oxygen fluid

Journal of Artificial Organs - Intravenous oxygenation has demonstrated significant increase in partial pressure of oxygen (PO2) in animal models. A highly dissolved oxygen solution might be able...     

Identification of miR‐305, a microRNA that promotes aging,and its target mRNAs in Drosophila

MicroRNAs (miRNAs) are involved in the regulation of important biological processes. Here, we describe a novel Drosophila miRNAs involved in aging. We selected eight Drosophila miRNAs, displaying high homology with seed sequences of aging‐related miRNAs characterized in other species, and investigated whether the over‐expression of these miRNAs affected aging in Drosophila adult flies. The lifespan of adults over‐expressing miR‐305, a miRNA showing high homology with miR‐239 in C. elegans, was significantly shorter. Conversely, a reduction in miR‐305 expression led to a longer lifespan than that in control flies. miR‐305 over‐expression accelerated the impairment of locomotor activity and promoted the age‐dependent accumulation of poly‐ubiquitinated protein aggregates in the muscle, as flies aged. Thus, we show that the ectopic expression of miR‐305 has a deleterious effect on aging in Drosophila. To identify the targets of miR‐305, we performed RNA‐Seq. We discovered several mRNAs encoding antimicrobial peptides and insulin‐like peptides, whose expression changed in adults upon miR‐305 over‐expression. We further confirmed, by qRT‐PCR, that miR‐305 over‐expression significantly decreases the mRNA levels of four antimicrobial peptides. As these mRNAs contain multiple sequences matching the seed sequence of miR‐305, we speculate that a reduction in target mRNA levels, caused by ectopic miRNA expression, promotes aging.     

Clinical analysis of pulmonary <Emphasis Type="Italic">Mycobacterium avium</Emphasis> complex disease in association with corticosteroid treatment

We studied the clinical characteristics of nine patients with pulmonary Mycobacterium avium complex disease occurring in association with corticosteroid drugs collected from our associated hospitals during the past 6 years. The average age of the nine patients was 62.2 years and the male/female ratio was 3 : 6. Regarding underlying disease, respiratory diseases existed in four of the patients and nonrespiratory diseases in the other five patients. The duration of corticosteroid treatment ranged from 5 months to 5 years, and the total dose of corticosteroid drugs ranged from 1.78 to 43.20 g. Pulmonary Mycobacterium avium complex disease was detected by clinical symptoms during corticosteroid treatment in six patients, and purified protein derivative was positive in three of eight patients tested. Radiological findings showed an infiltration shadow without cavity and bronchiectasis in the lower lung field. Microbiological examination was smear-positive in three patients, and the isolated mycobacterium was Mycobacterium intracellulare in five patients and Mycobacterium avium in four. Tolerance was shown to all antituberculous drugs, except for clarithromycin, in all patients. Although treatment including clarithromycin was performed for seven patients, the sputum conversion rate was 33% and an improved clinical effect was noted in only one patient. No change occurred in four and worsening occurred in four. Attention should be paid to the clinical symptoms and radiological findings of patients who have received corticosteroid drugs over a long period of time, because pulmonary Mycobacterium avium complex is characterized by atypical radiographic findings with no relationship to the total dose or duration of the administered corticosteroid drugs. Received: August 22, 2002 / Accepted: October 21, 2002     

Clinical characteristics of spontaneous isolated visceral artery dissection

Objective

Spontaneous isolated visceral artery dissection (SIVAD) involving the celiac artery or superior mesenteric artery is rare, but it can be fatal. Given its rare incidence, the clinical characteristics of SIVAD are not fully understood. Therefore, the aim of this study was to investigate the clinical characteristics and prognosis of SIVAD.

Intracranial invasive aspergillosis originating in the sphenoid sinus: a successful treatment with high-dose itraconazole in three cases

We report three cases of intracranial aspergillosis originating in the sphenoid sinus in immunocompetent patients. The patients presented with an orbital apex syndrome in that a unilateral loss of vision and cranial nerve III palsy were seen in all cases and a contralateral involvement was also seen in one case. Despite the initial treatment with a conventional dose of itraconazole (ITCZ, 200 mg/day), the neurological deficits failed to improve and the granulomatous inflammation was not suppressed. Therefore, we treated with a combination of a high dose of ITCZ at 500-1000 mg/day (16-24 mg/kg/day) and amphotericin B (AMPH-B) at 0.5 mg/kg/day, in conjunction with a pulse dose of methylprednisolone at 1000 mg/day. Two cases responded favorably in that the ocular movements completely recovered, and their maximum serum concentrations of the hydroxy ITCZ were 7816 ng/ml and 5370 ng/ml. However, the other case worsened, despite ITCZ treatment at 16 mg/kg/day, and the serum concentration of the hydroxy ITCZ was 3863 ng/ml. The surgical decompression of the cavernous sinus via an extradural approach was performed, and the dose of ITCZ was increased to 24 mg/kg/day. The resulting serum concentration of the hydroxy ITCZ was 4753 ng/ml, and the outcome of this case has been favorable. These results suggest that a high blood level of the hydroxy ITCZ (more than 4500 ng/ml) is a prerequisite for the successful treatment of intracranial aspergillosis and that the combination treatment of ITCZ with AMPH-B would be preferred. The concomitant use of steroid and/or surgical decompression should be considered, if the invasiveness is not well-controlled in spite of intensive medical therapy.     

Diagnosis of Helicobacter pylori infection

Peptic ulcer in elderly patients may be associated with Helicobacter pylori infection. Diagnosis for H. pylori infection should be needed in these patients. The test may be resulted in false negative in case of invasive diagnostic methods based gastric biopsy, because atrophic gastritis and intestinal metaplasia developed in patients may not be able to detect scarce infection of the bacterium. Urea breath test or stool antigen test are recommended for diagnosis of H. pylori infection in patients. It is suitable for patients, because of the non invasive nature of these diagnostic tests.