FOXJ1 Variants Causing Primary Ciliary Dyskinesia with Hydrocephalus: A Case Report from Japan.

Primary ciliary dyskinesia (PCD) is a genetic disease characterized by motile cilia dysfunction, mostly inherited in an autosomal recessive or X-linked manner. We herein report a 29-year-old woman with PCD caused by a heterozygous frameshift mutation due to a single nucleotide deletion in exon 3 of FOXJ1. Heterozygous de novo mutations in FOXJ1 have been reported as an autosomal-dominant cause of PCD. The patient had situs inversus, congenital heart disease, infertility, and hydrocephalus. However, the nasal nitric oxide level was normal. Long-term macrolide therapy was remarkably effective. This is the first case report of PCD caused by a FOXJ1 variant in Japan.

A case of platypnea orthodeoxia syndrome: a persistent history taking was the key to the diagnosis.

A 79-year-old woman who had been suffering from dyspnea on effort for more than 50 years was admitted for further examination and treatment. On the screening respiratory examinations, the A-aDO2 was elevated but none of diffusion disturbance, ventilation-perfusion ratio inequality nor right-to-left shunt was detected. Finally, the fact that the dizziness occurred only in sitting or standing position was revealed by persistent history taking. Transesophageal echocardiography in recumbent and sitting positions revealed the platypnea orthodeoxia syndrome associated with atrial septal defect. This case highlights the necessity of awareness of this syndrome and the occult atrial septal defect.

[Asthma control test (ACT) faultiness and the remediation by peak flow (PEF) measurement at outpatient department].

BACKGROUND: To grasp the asthma patients' control level, an asthma control test (ACT), an easy questionnaire, is getting to be used as the alternative method of asthma diary recording. ACT is based on the patient's 4-week memory and the accuracy is not confirmed thoroughly METHODS: Two hundred and eighty three visits of 88 asthmatics (male 29, female 59) were subjected. The accuracy of ACT to detect "truly good control" was analyzed by comparing with the asthma diary (symptoms and PEF were recorded). RESULTS: Sensitivities, specificities (chi square values) for extraction of truly good control were 0.88, 0.42 (23.7) by the threshold of ACT > or =23, 0.77, 0.51 (18.1) by ACT > or =24, and 0.54, 0.69 (12.9) by ACT=25, significantly (p<0.001, respectively). When PEF% predicted > or =80% was added as the second factor, the chi square values improved to 29.9 by ACT > or =23 and to 30.3 by ACT > or =24 significantly (p<0.001, respectively). CONCLUSION: Addition of PEF measurement on visit on ACT may help understanding the asthmatic patient condition.