ABSTRACT
We report the case of a 3-year-old boy with a history of repeated neutropenia and infection along with a significant family medical history. The diagnosis was cyclic neutropenia based on genetic testing. He had experienced frequent repeated episodes of fever since age 8 months, and he was found to have neutropenia when hospitalized due to acute otitis media at age 13 months. We obtained serial data of complete blood cell counts for 6 weeks when he was 3 years and 4 months old, which confirmed a cyclic increase and decrease in the number of neutrophils. ELANE gene testing was performed after obtaining written informed consent from the parents. A missense mutation was identified. At the parents’ request, we ran further testing and identified the same mutation in the father and paternal grandmother. Thus, 3 generations of kindred had the ELANE gene mutation. Because of repeated infections, prophylactic sulfamethoxazole trimethoprim was started from age 3 years and 10 months, resulting in a considerable decrease in the frequency of infections. Since age 4 years and 11 months, cyclic neutrophil over about 3 weeks has persisted, but there have been no serious infections requiring hospitalization.
ABSTRACT
It has been well known that rheumatoid arthritis is an indication to spa therapy. It is real situation that the use of other treatments at the same time makes difficult to assess the effect of spa therapy.<br>It was thought that knowing the patients opinions for spa therapy and other factors might be a means to evaluate the therapeutic efficacy of various treatments. For this purpose, information by questionaires was gathered from patients. 156 out of 283 patients discharged from this hospital from 1971 to 1975 answered to questionaires. 52 inpatients in this hospital also answered to questionaires.<br>As regards spa therapy, 57 out of 156 discharged patients (36.5%) visited a spa after discharge and 29 out of 52 inpatients (55.8%) visited a spa prior to admission. Namely, a considerable number of patients has received spa therapy.<br>Those patients who answered that spa therapy was effective were 35 discharged patients (61.4% of patients visited a spa after discharge) and 14 inpatients (48.2% of patients visited a spa prior to admission). Namely, a conciderable number of patients answered that spa therapy was effective.<br>As regards spa therapy in this hospital, 36 out of 52 inpatients (69.2%) answered that it was effective and 2 (3.5%) uneffective. 10 patients (19.2%) answered that other spas were uneffective gave answer that spa in this hospital was effective. It is considered that this fact points out that the therapeutic efficacy of spa therapy include factors aside from spa itself.<br>Further questionaires given to inpatients regarding other factors disclosed that psychological and climatic factors exert considerably influence on improvement of the disease.<br>The condition of disease was compared the present status with that on discharge. Those patients who had the more advanced stage or class had the more poor prognosis.<br>Proper medication, physical and psychological rest, good instruction for daily living, proper exercise, and spa bath's were demonstrated to have value for improvement of the disease.<br>Physical and psychological strain, attach of complication, and discontinuation of drugs were demonstrated to offer worsening of the disease.