Colonoscopic diagnosis and reduction of recurrent intussusception owing to Henoch-Schönlein purpura without purpura.

About 50-75% of patients with Henoch-Schönlein purpura (HSP) develop gastro-intestinal symptoms with surgical complications such as intussusception occurring in 0.7-13.6%.

Venous thromboembolism in two adolescents with Down syndrome.

Kurokami T, Takasawa R, Takeda S, Kurobe M, Takasawa K, Nishioka M, Shimohira M. Venous thromboembolism in two adolescents with Down syndrome. Turk J Pediatr 2018; 60: 429-432.

Risk of coronary artery lesions in young infants with Kawasaki disease: need for a new diagnostic method.

Aim: To examine clinical characteristics of Kawasaki disease (KD) in infants younger than 3 months of age and to develop a method for detecting KD in febrile infants.

Method: In a case-control study, we retrospectively collected clinical and laboratory data from 24 KD infants younger than 3 months of age out of 410 KD patients. We then compared younger infants with both older patients and febrile infants with respiratory syncytial virus (RSV) infection and urinary tract infections (UTI).

Abdominal paraganglioma in a young woman with 1p36 deletion syndrome.

1p36 deletion syndrome is the most common terminal deletion syndrome, and the genomic regions that contribute to specific 1p36 deletion syndrome-related phenotypes were recently identified. Deletions in the 1p36 region have been documented in various tumor tissues, which indicates correlation between loss of heterozygosity of 1p36 and tumor development, and the existence of tumor suppressors in this region. Therefore, it was suspected that patients with 1p36 deletion syndrome have a higher risk of tumor development; however, only a few child cases of neuroblastoma with 1p36 deletion syndrome have been reported.

Improved growth velocity of a patient with Noonan-like syndrome with loose anagen hair (NS/LAH) without growth hormone deficiency by low-dose growth hormone therapy.

Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM 607721) is caused by a heterozygous c.4A>G mutation in SHOC2. Most cases exhibit both growth hormone deficiency (GHD) and growth hormone insensitivity (GHI) and thus require a high dose of growth hormone (GH) therapy (e.

Low-dose levodopa is effective for laryngeal dystonia in xeroderma pigmentosum group A.

Xeroderma pigmentosum (XP), a genetic disorder in DNA nucleotide excision repair, is characterized by skin hypersensitivity to sunlight and progressive neurological impairment. Laryngeal dystonia and vocal cord paralysis are complications that can arise in older XP group A (XPA) patients. We report three patients with XPA being administered low-dose levodopa (0.

[The secondary headache in dentistry].

This report summarizes the secondary headache attributed to dental disease. Among a lot of dental diseases, the temporomandibular disorder(TMD) is the most important for understanding the mechanism of this type of headache. Our recent study showed that TMD patients had the following symptoms: dysdiadochokinesia, abnormal induced-rigidity in forearms, abnormal circadian rhythm, tension-type headache and mental torment.

Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome.

The 1p36 deletion syndrome is a newly delineated multiple congenital anomalies/mental retardation syndrome characterized by mental retardation, growth delay, epilepsy, congenital heart defects, characteristic facial appearance, and precocious puberty. We analyzed 11 patients by fluorescence in situ hybridization (FISH) using commercially available bacterial artificial chromosome and P1-derived artificial chromosome genomic clones to define the chromosomal deletion responsible for the 1p36 deletion syndrome. Cytogenetic investigation revealed two cases with a terminal deletion of 1p36.

Systemic growth hormone corrects sleep disturbance in Smith-Magenis syndrome.

Smith-Magenis syndrome (SMS) is a multiple congenital anomaly syndrome characterized by an interstitial deletion of chromosome 17p11.2. Sleep problems such as nocturnal awakening and abnormality in the percentage of rapid eye movement (REM) sleep are frequently observed in patients with SMS, and several medications have been administered to improve the sleep disorders.

Rapid-eye-movement sleep in jittery infants.

Background: The pathogenesis of neonatal jitteriness (JT) remains unknown. Neonatal JT could be one of the symptoms associated with drug withdrawal syndrome due to maternal medication. To study the influence of chemicals and environment on brain development in the fetal period, Swaab and Mirmiran proposed "behavioral teratology".