Case report: Endovascular treatment of acute limb ischemia in an adolescent with newly diagnosed lupus.

We report a 14-year-old adolescent who presented with acute limb ischemia caused by systemic lupus erythematosus-related antiphospholipid syndrome (APS). In the pediatric population, acute limb ischemia is rare. This case is unique in that after the initial medical treatment failed, interventional devices for acute stroke intervention were utilized to salvage the limb in our patient with a small tibial artery vessel to achieve procedural success. To provide limb salvage, operators may combine peripheral and neuro-intervention devices to maximize procedure success.

Clinical manifestations and BTK gene defect in 4 unrelated Taiwanese families with Bruton's disease.

BACKGROUND AND OBJECTIVE: X-linked agammaglobulinemia (XLA, also called Bruton's disease) is is an X-linked recessive disorder characterized by recurrent bacterial infections, usually occurring in the first few years of life. Here, we report the results of a BTK gene mutation screening study that was performed in Taiwanese families with the BTK gene defect to further understand the inheritance patterns of XLA patients in Taiwan and to avoid new cases of XLA within families. MATERIALS AND METHODS: In this study, 52 members of 4 unrelated Taiwanese families with the BTK gene defect were enrolled. We studied the immunologic reports of 6 symptomatic living male patients with confirmed BTK gene defects and correlated the findings with their clinical symptoms. The genomic DNA of the subjects was subjected to direct sequencing mutation analysis. RESULTS: We screened 52 members of 4 unrelated Taiwanese families with the BTK gene defect for BTK gene mutation and found that there were 6 symptomatic living patients with a confirmed defect, 7 symptomatic deceased patients highly suspected to have had the defect and 11 asymptomatic female carriers. CONCLUSIONS: This is the first report in a series of the thorough screening for the BTK mutation and its carrier status in 4 unrelated Taiwanese families. One pedigree of our study comprises 4 generations. A complete BTK gene mutation study for the patient's family members is strongly suggested.

Juvenile scleroderma: experience in one institution.

BACKGROUND: Scleroderma is a chronic connective tissue disease characterized by hardened or scaly skin and widespread abnormalities of the viscera, which is rare in the pediatric age group. OBJECTIVE: In this study, we retrospectively reviewed 23 pediatric patients suffering systemic (SSc) and localized (LS) scleroderma. METHODS: Twenty-three patients were enrolled and were diagnosed with SSc or LS from March 1993 to September 2009 in the Department of Pediatrics at Mackay Memorial Hospital in Taipei, Taiwan. These diagnoses were based on the criteria of the American College of Rheumatology and the clinical manifestations of hard skin. Data recorded included sex, age-at-onset, age-at-diagnosis, laboratory data, family history, trauma history, treatment, and outcomes. RESULTS: Three patients suffered SSc and 20 patients had LS, including 16 girls and 7 boys. Mean age-at-onset was 6.55 +/- 3.28 years old. Antinuclear antibodies were positive in 15 patients. Tests for anti-Scl-70 antibodies were positive in 1 patient with SSc. One boy had en coup de sabre combined with a posterior fossa tumor. Twenty-two patients were treated with D-penicillamine. Oral prednisolone and methotrexate were added, if indicated. One girl with LS developed proteinuria after D-penicillamine treatment. All patients with localized disease ultimately documented a softening of their skin lesions. CONCLUSIONS: While scleroderma is rare in children, the prognosis of SSc is poor but better than for adults. The prognosis for LS is usually benign, however, the skin may become progressively indurated and it may not only be a skin disease. No progression from LS to SSc was observed in our study.

Incidence and risk factors for recurrent Henoch-Schönlein purpura in children from a 16-year nationwide database.

BACKGROUND: The recurrence rate of Henoch-Schönlein purpura (HSP) is 2.7%-30%, with varied average intervals between the first and second episodes. Few studies have explored the incidence and risk factors for recurrent HSP. METHODS: We used a 16-year nationwide database to analyze the incidence of recurrent HSP. Patients with HSP were identified, and risk factors for recurrent HSP were explored. Kaplan-Meier and Cox regression model analyses were performed, and covariates were adjusted in the multivariate model. RESULTS: From January 1, 1997 to December 31, 2012, among 2,886,836 individuals in the National Health Insurance Research Database, 1002 HSP patients aged < 18 years were identified. Among them, 164 had ≥2 HSP episodes (recurrence rate, 16.4%; incidence of recurrent HSP, 7.05 per 100 person-years); 83.6% patients with one HSP episode remained free of secondary HSP. The average time intervals between the first and second and second and third HSP episodes were 9.2 and 6.4 months, respectively. After adjusting for demographic parameters, comorbidities, and socioeconomic status, recurrent HSP was found to occur more frequently in patients who had renal involvement (adjusted hazard ratio, 2.41; 95% confidence interval [CI], 1.64-3.54; p < 0.001), were receiving steroid therapy for > 10 days (adjusted hazard ratio, 8.13; 95%CI, 2.51-26.36; p < 0.001), and had allergic rhinitis (adjusted hazard ratio, 1.63; 95%CI, 1.06-2.50; p = 0.026). CONCLUSIONS: The annual incidence of recurrent HSP was low. However, children who had underlying allergic rhinitis, presented with renal involvement, and received steroid treatment for > 10 days should be notified regarding the possibility of recurrence.

Developmental exposures to an azole fungicide triadimenol at environmentally relevant concentrations cause reproductive dysfunction in females of medaka fish.

Triadimenol is an effective meatabolite derived from the triazole fungicide triadimenfon. It is an agriculturally important reagent of environmentally emerging concern because of its broad use, persistent occurrence in the environment and greater fungicidal or toxic potency than the parent compound. However, the ecotoxicological impact of triadimenol on fish populations remains unclear. In this study, we investigated developmental toxicity and endocrine disruption effects in medaka fish (Oryzias latipes) exposed at an early life stage to triadimenol. First, mortality, gross development and oxidative stress responses were assessed with triadimenol exposure (3-3000 µg/L) during the embryonic stage. Then, medaka at a sensitive stage of early sexual development underwent 35-day continuous chronic exposure to triadimenol, and the endocrine disruption effects were assessed in adulthood and the next generation. Embryonic exposure to triadimenol did not induce significant teratogenic effects or oxidative stress in embryos or hatchlings. However, early-life exposure to triadimenol under environmentally relevant concentrations (3-30 µg/L) and 300 µg/L persistently altered ovary development and reproduction in female adults and skewed the sex ratio in progeny. As well, triadimenol exposure interrupted the hormone balance, as seen by the expression of genes responsible for estrogen metabolism and egg reproduction. Environmentally relevant triadimenol exposure in medaka fish at early life stages may have ecotoxicological impact in aquatic environments. Along with previous studies, we suggest that conazoles share similar modes of action in disrupting hormone homeostasis and reproduction in fish and mammals.

Pachydermodactyly: Three new cases in Taiwan.

Pachydermodactyly (PDD), Greek for thick-skin-finger, is an infrequently recognized benign disorder characterized by painless fusiform swelling of the soft tissues around the proximal interphalangeal joints of the hands. Histopathologic features include increased dermal accumulation of collagen fibers. Young males are predominantly affected. PDD is quite rare with approximately 90 cumulative cases reported worldwide. We report three new cases of PDD in Taiwan, including two female patients. Except for patient 1 having the habit of cracking the knuckles, and patient 2 having a history of patent ductus ateriosus post catheterization, the histories of all three patients were unremarkable. X-ray of bilateral hands revealed no abnormal finding except for soft tissue swelling around proximal interphalangeal joints. Laboratory examinations all showed negative results. No local or systemic treatment was given to these patients to treat PDD, with the exception of non-steroidal anti-inflammatory drugs prescribed to one patient for a short period. Skin care with local irritation avoidance was explained to all three patients. The long-term outcome of PDD was benign.

Juvenile idiopathic arthritis with pulmonary hemosiderosis: a case report.

Pleuropulmonary disease is occasionally seen in association with juvenile idiopathic arthritis. There have been few case reports of pulmonary hemosiderosis associated with juvenile idiopathic arthritis. We describe a case of a 3-year-old girl with iron deficiency anemia, juvenile idiopathic arthritis, and pulmonary hemosiderosis. Arthralgia of the left knee was noted 2 weeks after the diagnosis of iron deficiency anemia, and juvenile idiopathic arthritis was diagnosed 9 months later. She was treated with naproxen and prednisolone. Her joint symptoms were well controlled after the treatment. Six months later, hemoptysis developed and pulmonary hemosiderosis was diagnosed. She was again treated with naproxen and prednisolone and no more pulmonary or joint symptoms developed during more than 1-year follow-up.

Specific IgE to 5 different major house dust mites among asthmatic children.

Asthma is one of the most commonly occurring manifestation of allergy in Taiwan. Sensitivity to house dust mites is closely related to childhood asthma. This study was designed to investigate sensitized rates and average concentrations of specific IgE antibodies to 5 major house dust mites (HDMs) among asthmatic children. A total of 93 asthmatic children aged from 3 to 15 years were enrolled to measure their specific IgE concentrations in response to 5 different species of mites: Dermatophagoides pteronyssinus (Dp), Dermatophagoides farinae (Df), Dermatophagoides microceras (Dm), Euroglyphus maynei (Em), and Blomia tropicalis (Bt). The severity of hypersensitivity was classified based on the concentration of specific IgE as mild (0.35-3.5 kuA/L), moderate (3.5-50 kuA/L), and severe (> 50 kuA/L). Sixty-three asthmatic children were found to have specific IgE to at least one mite. The percentage of these 63 children who had specific IgE to Dp, Df, Dm, Em and Bt were 87%, 85%, 84%, 77%, and 65%, respectively. Patients with specific IgE to Dp, Df, Dm, and Bt, had a high percentage of moderate and severe hypersensitivity (83.6%, 83.4%, 81.4%, 70.6%, respectively). However, patients sensitized to Em have relatively lower concentration of specific IgE Ab, with 75% of them in the mild range. Some patients had positive IgE antibody to Em (3.2%), and Bt (3.2%) even though they had none to Dp and Df. We conclude that Dm and Bt are also important mite allergens in atopic children. Conventional testing that assays only for sensitivity to Dp and Df would fail to demonstrate 6.4% of mite sensitized asthmatic children.

Unusual manifestations of Kawasaki disease with retropharyngeal edema and shock syndrome in a Taiwanese child.

We report a 3-year-old girl with Kawasaki disease who presented with retropharyngeal edema and shock syndrome. This is the first reported case in Taiwan. The patient initially presented with fever, cough, and pyuria followed by rapidly progressive enlarged bilateral cervical lymphadenopathy. On the third day of the fever, computed tomography for airway compression sign found widening of the retropharyngeal space mimicking a retropharyngeal abscess. Later, an endotracheal tube was inserted for respiratory distress. A skin rash over her trunk was also noted. On the fifth day of the fever, the clinical course progressed to hypotension and shock syndrome. Because of more swelling of bilateral neck lymph nodes, computed tomography was arranged again and revealed partial resolution of the edematous changes in the retropharyngeal space. Edema of the hands and feet, bilateral bulbar conjunctivitis, and fissured lips were subsequently found. The diagnosis of Kawasaki disease was confirmed on the eighth day of fever. There was no evidence of bacterial infection. She was administered intravenous immunoglobulin (2 mg/kg) and high dose aspirin (100 mg/kg/day). One day later, the fever subsided, and her blood pressure gradually became stable. Heart echocardiography on the Day 13 revealed dilated left coronary artery and mitral regurgitation. Follow-up echocardiography six months later showed normal coronary arteries. To date, the patient has not experienced any complications. This case illustrates that retropharyngeal edema and shock syndrome can be present in the same clinical course of Kawasaki disease. Clinicians and those who work in intensive care units should be aware of unusual presentations of Kawasaki disease to decrease rates of cardiovascular complications.

Persistent endocrine disruption effects in medaka fish with early life-stage exposure to a triazole-containing aromatase inhibitor (letrozole).

Letrozole (LET) is a triazole-containing drug that can inhibit the activity of cytochrome P450 aromatase. It is an environmentally emerging pollutant because of its broad use in medicine and frequent occurrence in aquifers receiving the effluent of municipal or hospital wastewater. However, the toxic impact of LET on fish populations remains unclear. We exposed medaka fish (Oryzias latipes) at an early stage of sexual development to a continuous chronic LET at environmentally relevant concentrations and assessed the endocrine disruption effects in adulthood and the next generation. LET exposure at an early life stage persistently altered phenotypic sex development and reproduction in adults and skewed the sex ratio in progeny. As well, LET exposure led to a gender-different endocrine disruption as seen by the interruption in gene expression responsible for estrogen synthesis and metabolism and fish reproduction. LET interfering with the aromatase system in early life stages of medaka can disrupt hormone homeostasis and reproduction. This potent aromatase inhibitor has potential ecotoxicological impact on fish populations in aquatic environments.

Cystic fibrosis: experience in one institution.

Cystic fibrosis (CF) is one of the most common autosomal recessive inherited disorders among Caucasians. Comparatively, it is considered to be a rare disease among Asians. To date, only a few cases of Taiwanese CF have been published. We report four CF cases from three families. Case 1 was the first report of CF associated with a homozygosity for the CF transmembrane conductance regulator gene (CFTR gene) mutation 3849+10kb C->T in a Taiwanese patient. Cases 2 and 3 had heterozygous c. 1898+5 G->T and heterozygous p. I1023R (novel mutation) for the CFTR gene mutation. Case 4 was homozygous for the CFTR gene mutation R553X being reported in 2005 and complicated with cor pulmonale. These four patients had received 300 mg bid aerosolized tobramycin treatment every other month.

Bilateral parotitis caused by Mycobacterium chelonae in an immunocompetent child.

This report is of a healthy 3-year-old boy with bilateral parotitis caused by Mycobacterium chelonae. He was treated with antibiotics, but the symptoms did not improve. The biopsy pathology report revealed chronic caseating granulomatous inflammation. After 2 weeks, Mycobacterium chelonae was identified from the biopsy specimen culture. The antibiotics were changed to amikacin and clarithromycin, according to the susceptibility test. Two weeks later, he underwent debridement surgery. Only partial excision of the infected tissue was performed because of the possibility of facial nerve injury. After another 2 weeks of treatment with amikacin and clarithromycin, parotidectomy was performed. The patient then received a 6-month course of oral clarithromycin. At the 1-year follow up, he was well and without residual mass. His immunologic examinations were all within normal limits. This is the first report of bilateral parotitis caused by Mycobacterium chelonae in an immunocompetent boy in the English-language literature.