Therapy with propylthiouracil for T3-predominant neonatal Graves' disease: a case report.

This case report describes a male neonate with Graves' disease. The mother's pregnancy was complicated by poorly controlled Graves' disease. The neonate was diagnosed with thyroxine (T3)-predominant Graves' disease with low free triiodothyronine (T4) and high free T3 during antithyroid drug therapy. The patient also presented with persistent pulmonary hypertension of the newborn due to hyperthyroidism and airway stenosis caused by goiter. It was difficult to control thyroid function and maintain free T4 levels with inorganic iodine, thiamazole, and levothyroxine sodium hydrate. We successfully controlled thyroid function using the previous treatments in combination with propylthiouracil. Propylthiouracil suppresses type 1 iodothyronine deiodinase, and its pharmacological action suppresses the conversion of T4 to T3. Therefore, we used propylthiouracil at an earlier stage of intervention in this case. We ceased administration of antithyroid drugs on day 85 of life. Subsequently, as the TRH loading test revealed central hypothyroidism, oral administration of levothyroxine sodium hydrate was continued. Its administration was discontinued at the age of 1 yr. Thyroid-stimulating hormone recovered to normal values, and his development had progressed without complications by the age of 2 yr.

Streptococcal toxic shock syndrome caused by the dissemination of an invasive emm3/ST15 strain of Streptococcus pyogenes.

BACKGROUND: Streptococcus pyogenes (group A Streptococcus [GAS]) is a major human pathogen that causes a wide spectrum of clinical manifestations. Although invasive GAS (iGAS) infections are relatively uncommon, emm3/ST15 GAS is a highly virulent, invasive, and pathogenic strain. Global molecular epidemiology analysis has suggested that the frequency of emm3 GAS has been recently increasing. CASE PRESENTATION: A 14-year-old patient was diagnosed with streptococcal toxic shock syndrome and severe pneumonia, impaired renal function, and rhabdomyolysis. GAS was isolated from a culture of endotracheal aspirates and designated as KS030. Comparative genome analysis suggested that KS030 is classified as emm3 (emm-type) and ST15 (multilocus sequencing typing [MLST]), which is similar to iGAS isolates identified in the UK (2013) and Switzerland (2015). CONCLUSIONS: We conclude that the global dissemination of emm3/ST15 GAS strain has the potential to cause invasive disease.

Safety and efficacy of treatment with asfotase alfa in patients with hypophosphatasia: Results from a Japanese clinical trial.

OBJECTIVE: Hypophosphatasia (HPP) is a rare skeletal disease characterized by hypomineralization and low alkaline phosphatase activity. Asfotase alfa (AA) has been recently developed to treat HPP complications. This study evaluated its safety and efficacy in Japan. DESIGN: Open-label, multicentre, prospective trial. Patients were enrolled in 11 hospitals from June 2014 to July 2015. PATIENTS: Thirteen patients (9 females, 4 males) ages 0 days to 34 years at baseline were enrolled and treated with AA (2 mg/kg three times weekly subcutaneously in all but one patient). All had ALPL gene mutations. HPP forms were perinatal (n=6), infantile (n=5), childhood (n=1) and adult (n=1). MEASUREMENTS: Safety determined from adverse events (AEs) and laboratory data was the primary outcome measure. Efficacy was assessed as a secondary outcome measure from overall survival, respiratory status, rickets severity and gross motor development. RESULTS: Injection site reactions were the most frequent AEs. Serious AEs possibly related to treatment were convulsion and hypocalcaemia observed in a patient with the perinatal form. In addition, hypercalcaemia and/or hyperphosphatemia was observed in three patients with the infantile form and a low-calcium and/or low-phosphate formula was given to these patients. With respect to efficacy, all patients survived and the radiographic findings, developmental milestones and respiratory function improved. CONCLUSION: Asfotase alfa therapy improved skeletal, respiratory and physical symptoms with a few serious AEs in patients with HPP. Our results add support to the safety and efficacy of AA therapy for HPP patients.

[Three cases with high TARC levels of gastrointestinal food allergies in neonates and infants].

We measured serum TARC (Thymus and activation-regulated chemokine, CCL-17) levels in three patients of gastrointestinal food allergies in neonates and infants. Patient 1: 14-day-old girl. The chief complaints were poor feeding and weight loss. She tested peripheral eosinophilia (5820 /µL), high serum TARC levels (4730 pg/mL) and positive milk-specific IgE (1.53 UA/mL) at the time of onset. After change from cow' milk formula to hydrolyzed infant formulas and breast milk ahead of dairy products intake, the symptoms resolved. One month and a half later, she re-tested negative milk-specific IgE and normal serum TARC levels (198 pg/mL). Patient 2: 3-month-old girl. The chief complaint was vomiting after intake of cow' milk formula. She tested negative milk-specific IgE and very high serum TARC levels (25200 pg/mL) at the time of onset. After changing to hydrolyzed infant formulas and breast milk ahead of dairy products intake, the symptom resolved. Three months later, she re-tested positive milk-specific IgE (0.42 UA/mL) and normal serum TARC levels (1250 pg/mL). Patient 3: 21-day-old boy. The chief complaint was vomiting after intake of cow' milk formula. He tested peripheral eosinophilia (2923 /µL), very high serum TARC levels (49100 pg/mL) and positive milk-specific IgE (0.47 UA/mL) at the time of onset. After changing to hydrolyzed infant formulas and breast milk ahead of dairy products intake, the symptom resolved. Two weeks later, he re-tested negative milk-specific IgE and serum TARC levels (2210 pg/mL). Serum TARC may be related to the part of gastrointestinal food allergies in neonates and infants.