Development and validation of an infant facial skin assessment tool: a prospective observational study.

BACKGROUND: Severe infant eczema on the face should be treated early because it may lead to allergic diseases in the future. However, caregivers find it difficult to assess. A visual tool for caregivers is needed to easily determine infants' facial skin condition severity based on the tool's scores. We developed an infant facial skin assessment tool (IFSAT) and evaluated its reliability and validity. METHODS: The IFSAT draft was developed based on results of a previous literature review and qualitative sketch. Panels including medical professionals and a caregiver checked the draft's content and face validity, and the IFSAT was finalized. To test the IFSAT's reliability and validity, caregivers and one-month-old infants were recruited. Two scoring methods were additionally created based on the relation between the items and cure period. The relationships between scores and cure period, and the ability to predict whether the infant needed medical treatment were examined by each scoring method. For the predictive validity, scores for infants requiring medical treatment and those for infants who did not were also compared. For the intra-examiner reliability analysis, two pediatricians rated the scores separately twice using photographs. Inter-rater reliabilities were analyzed among pediatricians, nurses, and caregivers. RESULTS: Altogether, 113 infant-caregiver pairs participated in the testing phase. Of the two scoring methods created (versions 1 and 2), pediatricians' and caregivers' scores using versions 1 and 2 were related to the cure period. These scores predict whether the infant needed medical treatment. We then selected version 2 based on the medical professionals' opinions. The scores of caregivers of infants requiring medical treatment were higher than those of caregivers of infants not requiring treatment (p < 0.001). The intraclass correlation coefficient (ICC) of intra-examiner reliability was 0.87. The ICC of inter-rater reliabilities between pediatricians' and caregivers' scores and between nurses' and caregivers' scores were 0.66, and 0.66, respectively. CONCLUSIONS: The proposed IFSAT may be used to assess whether infants need medical treatment and whether to extend the cure period. The tool's reliability and validity were confirmed.

Orthostatic and Exercise Effects in Children Years After Kawasaki Disease.

The long-term orthostatic and/or exercise hemodynamic effects in children years after Kawasaki disease (KD) were studied using clinical data from the treadmill exercise test (TMET). Heart rate (HR) and blood pressures (BPs) recorded in TMET were compared between two age, gender, and body scale-matched groups of patients with and without a history of KD. The KD group included 60 patients (9.8 ± 2.7 years old) 6.6 ± 2.6 years after KD without coronary arterial aneurysm. The non-KD group included 60 children (10.2 ± 2.7 years old) with other diagnoses. The exercise tolerance in TMET was not statistically different between the two groups. The KD group had a faster HR on standing than the non-KD group by 8.6% (101.5 ± 12.2 vs. 93.5 ± 15.9 bpm, respectively; P < 0.01), suggesting weaker and/or retarded orthostatic vasoconstriction. The pulse pressure was largely augmented above the 4th stage beyond 160 mmHg in 10.6 versus 0% (5 vs. 0) of the KD and non-KD groups (P < 0.05), respectively, while HR and BPs were not significantly different through exercise stages between the two groups. The KD group also showed a faster HR recovery five minutes after exercise than the non-KD group, by 5.7% (108.0 ± 11.6 vs. 102.2 ± 14.2 bpm, respectively; P < 0.05). Our results might indicate long-term subclinical impacts on the vascular tonus of children years after the disease that have not been recognized in previous studies.

Hypertension is a characteristic complication of X-linked hypophosphatemia.

X-linked hypophosphatemia (XLH) is a group of rare disorders caused by defective proximal tubular reabsorption of phosphate. Mutations in the PHEX gene are responsible for the majority of cases. There are very few reports of long-term complications of XLH other than skeletal and dental diseases. The aim of this study was to identify the phenotypic presentation of XLH during adulthood including complications other than skeletal and dental diseases. The clinical and biochemical phenotype of 22 adult patients with a PHEX gene mutation were examined retrospectively from their medical records. 6 patients had hypertension. The average age of hypertension onset was 29.0 years. Secondary hyperparathyroidism preceded the development of hypertension in 5 patients. 1 patient developed tertiary hyperparathyroidism. 15 patients had nephrocalcinosis. 2 patients had chronic renal dysfunction. Patients with hypertension had a significantly lower eGFR (p=0.010) compared to patients without hypertension. No significant difference was found in any other parameters. To examine the genotype-phenotype correlation, 10 adult males were chosen for analysis. No significant genotype-phenotype correlation analysis was revealed in any of the complications. However, there was a possibility that the age at nephrocalcinosis onset was younger in the non-missense mutation group than in the missense mutation group (p=0.063). This study corroborated the view that early-onset hypertension could be one of the characteristic complications seen in XLH patients. Considering the limited number of our patients, further study is necessary to address a potential cause of hypertension. XLH patients require careful lifelong treatment.

A case with neonatal hyperinsulinemic hypoglycemia: It is a characteristic complication of Sotos syndrome.

Sotos syndrome (SoS, OMIM #117550) is an overgrowth syndrome. Deletions or intragenic mutations of the NSD1 , which is located at chromosome 5q35, are responsible for more than 75% of SoS. Conventionally, neonatal hypoglycemia was reported briefly as one of the infrequent symptoms of SoS. However, Matsuo et al. published a report describing five patients with SoS who presented with transient hyperinsulinemic hypoglycemia (HIH) in the neonatal period. We report on an additional patient of SoS, who presented transient HIH in the neonatal period. All of this patient and previous patients have microdeletions at the 5q35 chromosome. Therefore, we examined the following three in considering the possibility that other factor than NSD1 caused HIH. 1) This patient had no mutation of four currently known HIH related genes, ABCC8, KCNJ11, GLUD1, and GCK. 2) He had no further deletion than commonly observed region encompassing NSD1 by comparative genomic hybridization to DNA microarrays. 3) He had no mutation in the 5q35 region in the non-deleted chromosome using exsome sequence analysis. In conclusion, our patient supported that HIH could be one of the characteristic symptoms of SoS in the neonatal period, and could be useful for early diagnosis.

Distribution of mRNA for GPR143, a receptor of 3,4-L-dihydroxyphenylalanine, and of immunoreactivities for nicotinic acetylcholine receptors in the nigrostriatal and mesolimbic regions.

Nicotine exerts its reinforcing actions by activating nicotinic acetylcholine receptors (nAChRs), but the detailed mechanisms remain unclear. Nicotine releases 3, 4-dihydroxyphenylalanine (DOPA), a neurotransmitter candidate in the central nervous system. Here, we investigated the distribution of GPR143, a receptor of DOPA, and nAChR subunits in the nigrostriatal and mesolimbic regions. We found GPR143 mRNA-positive cells in the striatum and nucleus accumbens. Some of them were surrounded by tyrosine hydroxylase (TH)-immunoreactive fibers. There were some GPR143 mRNA-positive cells coexpressing TH, and nAChR subunit α4 or α7 in the substantia nigra and ventral tegmental area. These findings suggest that DOPA-GPR143 signaling may be involved in the nicotine action in the nigrostriatal and mesolimbic dopaminergic systems.

Outcome of surgical clipping for ruptured, low-grade, anterior circulation cerebral aneurysms: should clipping be omitted after International Subarachnoid Aneurysm Trial?

BACKGROUND: A recent randomized trial for ruptured aneurysm resulted in poorer outcomes for the surgical group than the endovascular group. However, the surgical results seemed to be worse than could be expected for experienced neurosurgeons in Japan. We therefore analyzed our own surgical results and evaluated them for a comparison with the trial results. METHODS: Data on patients with ruptured, small, anterior circulation aneurysms in good clinical condition (World Federation of Neurological Surgeons grade I or II) and treated with surgical clipping were obtained from various discharge databases for 1997 to 2001, and their outcomes were analyzed in a retrograde fashion. RESULTS: Of the total of 487 patients, 17.6% showed a poor outcome (modified Rankin Scales 3-6) at discharge, and after 1 year, 6.1% remained in poor clinical condition. However, fewer patients were in poor condition both at discharge and after 1 year compared with the surgical and endovascular results for patients entered in the International Subarachnoid Aneurysm Trial. Complete occlusion of the aneurysm was attained in 93.6% of our patients. Rebleeding from the treated aneurysm occurred in 0.6%, and there was no rebleeding after 1 year. CONCLUSIONS: Surgical clipping is a safe and reliable treatment and can be the first choice for small ruptured aneurysms of the anterior circulation with a good grade.

Low response to a monovalent inactivated unadjuvanted influenza A (H1N1) pdm09 vaccine in pediatricians of a general hospital in Japan.

Immunization of health care personnel (HCP) is critically important to reduce healthcare-associated influenza infections substantially. During 2009-2010, 74% of all HCP at Kitano Hospital, Osaka, Japan, including 94% of pediatricians, received the monovalent unadjuvanted influenza A (H1N1) pdm09 vaccine. We evaluated the vaccine's immunogenicity. Sixteen pediatricians received 15 µg hemagglutinin antigen subcutaneously. Antibody titer assays were conducted using hemagglutination-inhibition antibody assay on days 0 and 21, and at 5 mo after vaccination. Seroprotection rates, seroconversion rates, and geometric mean titer folds at 21 d were, respectively, 43.8%, 43.8%, and 5.4 in all subjects, 70.0%, 70.0%, and 8.0 in subjects aged 27-34 y, and 0.0%, 0.0%, and 8.0 in subjects aged ≥ 35 y. None of the latter group met the European Medicines Agency criteria. We hope to adopt intradermal routes and further the development of the influenza vaccine using new technology to improve immunogenicity in Japan.

Presacral meningocele associated with hereditary sacral agenesis and treated surgically: evaluation in three members of the same family.

OBJECTIVE AND IMPORTANCE: Presacral meningocele in hereditary sacral agenesis is a complex and unusual spinal dysgenetic syndrome. Recognition of the syndromic triad, its natural history, and familial presentation has important practical applications for the management of this disease as well as its complications. CLINICAL PRESENTATION: This report concerns three patients in one family with Currarino syndrome. We detail its clinical presentation, operative management, and outcome and suggest management procedures based on reports in the literature and the results of our surgical techniques, which focus on cases with an "incomplete" triad. INTERVENTION: Three members of the same family, one adult and two children, underwent surgery through the posterior sacral approach tying off the communication between dural sac and anterior meningocele. The adult underwent a second surgical procedure in which a custom-designed surgical technique was used to resolve postoperative cerebrospinal fluid leakage. One of the children underwent an additional posterior sagittal anorectoplasty to remove a presacral teratoma. CONCLUSION: We report a rare occurrence of three familial cases of sacral agenesis accompanied by a presacral mass with various degrees of phenotypic expression and with male dominant transmission. Because of its rarity, the best surgical technique and timing remain an open question especially in cases with incomplete triad syndrome.