Spectrum of WAS gene mutations in Vietnamese patients with Wiskott–Aldrich syndromePediatrics International - Tập 66 Số 1 - 2024
Ho Quoc Chuong, Phan Thị Xinh, Duong Bich Tram, Nguyễn Thị Thanh Hà, Tuan M. Nguyen, Phan Nguyen Lien Anh, Nguyen Dinh Van, Nguyen Hoang Mai Anh, Phu Chi Dung, Nghia Dinh Huynh, Hoàng Anh Vũ
AbstractBackgroundWAS gene mutational analysis is crucial to establish a definite diagnosis of Wiskott–Aldrich syndrome (WAS). Data on the genetic background of WAS in Vietnamese patients have not been reported.
MethodsWe recruited 97 male, unrelated patients with WAS and analyzed WAS gene mutation using Sanger sequencing technology.
ResultsWe identified 36 distinct hemizygous pathogenic mutations, with 17 novel variants, from 38 patients in the entire cohort (39.2%). The mutational spectrum included 14 missense, 12 indel, five nonsense, four splicing, and one non‐stop mutations. Most mutations appear only once, with the exception of c.37C>T (p.R13X) and c.374G>A (p.G125E) each of which occurs twice in unrelated patients.
ConclusionOur data enrich the mutational spectrum of the WAS gene and are crucial for understanding the genetic background of WAS and for supporting genetic counseling.
Physical fitness in rural children compared with urban children in TurkeyPediatrics International - Tập 47 Số 1 - Trang 26-31 - 2005
Mehtap Özdırenç, Ayşe Özcan, Fatma Akin, Nihal Gelecek
Abstract
Background
: In a crowded modern world it is vital that the promotion of sport and exercise should be compatible with environmental and public health outcomes. This study aims to investigate the effects of environmental factors, lifestyle and leisure time activities on physical fitness in rural and urban children.
Methods
: A cross‐sectional observational study of 98 rural and 74 urban healthy children (aged 9–11 years) was conducted in Turkey. A questionnaire was used in collecting information about the children's physical activity habits and their school's facilities. The physical fitness of children was evaluated with EUROFIT test battery.
Results
: The rural children preferred to play football and volleyball while the urban children had a tendency to prefer indoor sports. The percent of urban children not involved in any sports activity was 35%, while this rate was 30.6% for rural children. It was also found that the urban children watched TV more than the rural children (13.4 ± 2.7 h/week, 10.9 ± 2.7 h/week, respectively). The results showed that body mass index and skinfolds thickness were higher in the urban children (P < 0.05). There were no significant differences in the hip–waist ratio or the hip and waist circumference between the two groups. In cardiopulmonary and motor fitness, no difference was found between the two groups. In contrast, flexibility and muscle endurance were significantly higher in the rural children.
Conclusion
: The children living in the urban areas were more inactive and obese, which resulted in a decrease in their flexibility and muscle endurance fitness.
A study of urinary metabolites in patients with dicarboxylic aciduria for differential diagnosisPediatrics International - Tập 36 Số 2 - Trang 139-145 - 1994
Nobuo Shimizu, Seiji Yamaguchi, Tadao Orii
AbstractDicarboxylic aciduria (DCA‐uria) is a relatively common finding in the screening of organic acidemias by gas chromatography/mass spectrometry (GC/MS). A considerable number of patients with DCA‐uria are involved in disturbances of mitochondrial and peroxisomal fatty acid β‐oxidation. The differential diagnosis of DCA‐uria was investigated using a combination of organic acid analysis by GC/MS, carnitine determination, acylcarnitines by fast atom bombardment/mass spectrometry (FAB/MS) and acylglycines by stable‐isotope dilution analysis. The relative distribution of urinary metabolites was examined in 46 patients with DCA‐uria of different origins, including physiological ketosis of childhood, disorders of propionic acid metabolism, glutaric aciduria type II, Zellweger syndrome and patients who were clinically diagnosed as having Reye syndrome.
Zellweger syndrome seemed to be distinguishable from other disorders by the high sebacic acid/adipic acid ratio of DCA‐uria and increased excretion of 4‐hydroxyphenyllactic acid and 2‐hydroxysebacic acid. The mild form of glutaric aciduria type II was often missed by current organic acid analysis alone, but was readily diagnosed by acylcarnitine and acylglycine determination.
The ratio of free/total carnitine was low in most of the DCA‐uria patients except for two of five cases of Zellweger syndrome and one of three cases of Reye syndrome. The acylcarnitine analysis by FAB/MS showed adipyl‐, suberyl‐, sebacyl‐ or dodecanedioylcarnitine as major peaks in most of these patients, although these were not specific. Disease‐specific peaks were detectable only in congenital organic acidemias such as glutaric aciduria type II, methylmalonic acidemia and propionic acidemia.
Serum leptin concentrations in children with mild protein‐energy malnutrition and catch‐up growthPediatrics International - Tập 46 Số 5 - Trang 534-538 - 2004
Benal Büyükgebiz, Yeşim Öztürk, Şebnem Yılmaz, Nur Arslan
Abstract
Background
: The aim of the present study was to clarify the relationship between changing nutritional anthropometric data and serum leptin concentrations during the catch‐up growth process in children.
Methods
: Thirty children with mild protein‐energy malnutrition (PEM) were followed for 6 months and their anthropometric measurements and serum leptin concentrations were recorded during follow up.
Results
: Twenty‐two (73.3%) of the 30 children showed catch‐up growth. All parameters and serum leptin concentrations increased during the period of catch‐up growth. In the remaining eight children, weight for height, percentage standard body mass index, percentage standard body height and mean serum leptin concentrations did not show any significant increase at the 6 month follow‐up. Mean serum leptin concentration was higher in children with catch‐up growth than in the controls.
Conclusion
: During recovery from malnutrition, leptin concentrations increase in relation to fat mass if the fat mass reaches a critical point, and leptin might trigger catch‐up growth with its regulator effects on growth. Although weight gain was noted in both groups, an increase in leptin concentration was observed only in children who showed catch‐up growth. More interestingly, the mean leptin concentration was much higher in children with PEM who had catch‐up growth compared to the control group and in children who failed to have catch‐up growth. In children with catch‐up growth, the higher serum leptin concentrations compared to healthy children and to children without catch‐up growth despite significant weight gain suggests that leptin affects nutritional status in catch‐up growth as a dynamic process, rather than merely being an index of body fat content.
Six minute walk test versus incremental shuttle walk test in cystic fibrosisPediatrics International - Tập 58 Số 9 - Trang 887-893 - 2016
Melda Sağlam, Naciye Vardar-Yağlı, Sema Savcı, Deni̇z İnal İnce, Zeynep Arıbaş, Meral Boşnak Güçlü, Hülya Arıkan, Ebru Çalık-Kütükçü, Ebru Gunes‐Yalcın
AbstractBackgroundAlthough both self‐paced and externally paced field tests are widely used in cystic fibrosis (CF), it is still unclear whether they induce clinically relevant and similar cardiorespiratory responses. The aim of this study was therefore to compare the incremental shuttle walk test (ISWT) and 6 min walk test (6MWT), and to determine the factors influencing exercise capacity in CF.
MethodsFifty clinically stable CF patients were included in the study. Pulmonary function, peripheral and respiratory muscle strength were assessed, anthropometric measurements were recorded, and 6MWT and ISWT carried out.
ResultsThe CF patients covered significantly more distance in the ISWT than 6MWT (P < 0.001). Heart rate response and dyspnea score at the end of the tests and during the recovery phase were significantly higher in the ISWT compared with the 6MWT (P < 0.05). The 6MWT and ISWT had similar moderate–strong correlations with age, height, weight, pulmonary function, respiratory and peripheral muscle strength (P < 0.05). Forty‐nine percent of the variance in 6MWT distance was explained by age and forced expiratory volume in 1 s (FEV1; R2 = 0.49, F(2–48) = 22.033, P < 0.001). The variables contributing to ISWT distance were FEV1, inspiratory muscle strength, and body mass index (R2 = 0.596, F(3–44) = 20.176, P < 0.001).
ConclusionsThe ISWT is a better reflection of exercise tolerance in CF than 6MWT. ISWT is a preferable alternative assessment of exercise tolerance in terms of cardiorespiratory response.
Epidemiology of influenza‐associated encephalitis‐encephalopathy in Hokkaido, the northernmost island of JapanPediatrics International - Tập 42 Số 2 - Trang 192-196 - 2000
Takehiro Togashi, Yoshihiro Matsuzono, Mitsuo Narita
Abstract
Background
: It is well known that acute onset brain dysfunction, which usually is diagnosed as encephalitis or encephalopathy, occurs in association with influenza. However, this may have been underestimated as a rather infrequent event. Sixty‐four infants and children developed encephalitis‐encephalopathy during the five recent influenza seasons in Hokkaido, the northernmost island of Japan.
Methods
: Inquiries were sent at the end of each season, from October 1994 to March 1999, to 94 hospitals and institutes in Hokkaido which accept pediatric age patients, asking if there were any admitted cases of encephalitis or encephalopathy.
Results
: The patients were 42 boys and 22 girls and 47 (73.4%) were 4 years of age or younger. None of them had received an influenza vaccine nor had an oral administration of aspirin. Most of the patients became comatose with or without convulsions within a few days of the onset of fever. Twenty‐eight (43.8%) patients died and 13 (20.3%) had neurological sequelae. Patients with clotting disorders, elevations of serum creatine kinase and/or aspartate aminotransferase and alanine aminotransferase, and brain CT abnormalities had a poor prognosis compared with patients without. Among these affected patients, the influenza genome (H3) was detected by polymerase chain reaction in nine cerebrospinal fluid samples, influenza virus A (H3N2) was isolated in 18 nasopharyngeal swab samples and a four‐fold or greater rise in serum hemagglutinin inhibition antibody titer against H3N2 was observed in seven patients.
Conclusions
: It appears urgent to promote vaccination against influenza in young children to prevent these devastating disease conditions.
Breast‐feeding, a complex support system for the offspringPediatrics International - Tập 44 Số 4 - Trang 347-352 - 2002
Lars Å. Hanson, Marina Korotkova, Liliana Håversen, Inger Mattsby‐Baltzer, Mirjana Hahn‐Zoric, Sven‐Arne Silfverdal, Birgitta Strandvik, Esbjörn Telemo
AbstractThe newborn has an immune system, very limited in size at birth and its postnatal expansion and maturation takes time. In the meantime the transplacental IgG antibodies from the mother play an important role for the protection of the infant. However, these antibodies act in tissues and induce inflammation and are energy‐consuming. In contrast, the milk secretory IgA antibodies stop microbes already on the mucosa preventing infection, tissue engagement and energy loss. In addition, the milk contains many protective factors such as lactoferrin and oligosacharides functioning as analogues for microbial receptors preventing mucosal attachment, the initial step of most infections. As a result, breast‐feeding significantly reduces the risk of neonatal septicemia, respiratory tract infections, otitis media, diarrhea, urinary tract infections, infection‐induced wheezing and necrotizing enterocolitis. Via several mechanisms it seems that human milk can actively stimulate the immune system of the breast‐fed infant. This reduces the risk of infections like otitis media, respiratory tract infections, diarrhea and infection‐induced wheezing for several years after the termination of breast‐feeding. Furthermore, it seems that breast‐feeding decreases the risk of attracting celiac disease and allergic diseases. The latter has been much debated, but a recent critical review of published reports gives good support for long‐term protection of allergic diseases, especially in high‐risk children.