|
Role of CFTR mutation analysis in the diagnostic algorithm for cystic fibrosis
|
|
Michelle Ratkiewicz, Matthew Pastore, Karen Sharrock McCoy, Rohan Thompson, Don Hayes Jr., Shahid Ijaz Sheikh |
|
Background:
The cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation identification is being used with increased frequency to aid in the diagnosis of cystic fibrosis (CF) in those suspected with CF. Aim of this study was to identify diagnostic outcomes when CFTR mutational analysis was used in CF diagnosis. CFTR mutational analysis results were also compared with sweat chloride results.
Methods:
This study was done on all patients at our institution who had CFTR mutation analysis over a seven-year period since August 2006.
Results:
A total of 315 patients underwent CFTR mutational analysis. Fifty-one (16.2%) patients had two mutations identified. Among them 32 had positive sweat chloride levels (¡Ý60 mmol/L), while seven had borderline sweat chloride levels (40-59 mmol/L). An additional 70 patients (22.3%) had only one mutation identified. Among them eight had positive sweat chloride levels, and 17 had borderline sweat chloride levels. Fifty-five patients (17.5%) without CFTR mutations had either borderline (n=45) or positive (n=10) sweat chloride results. Three patients with a CF phenotype had negative CFTR analysis but elevated sweat chloride levels. In eighty-three patients (26.4%) CFTR mutational analysis was done without corresponding sweat chloride testing.
Conclusions:
Although CFTR mutation analysis has improved the diagnostic capability for CF, its use either as the first step or the only test to diagnose CFTR dysfunction should be discouraged and CF diagnostic guidelines need to be followed.
Key words: CFTR; cystic fibrosis; sweat chloride |
|
[Abstract] [Full Text] [PDF]
|
|
Newborn screening for remethylation disorders and vitamin B12 deficiency-evaluation of new strategies in cohorts from Qatar and Germany
|
|
Gwendolyn Gramer, Ghassan Abdoh, Tawfeg Ben-Omran, Noora Shahbeck, Rehab Ali, Laila Mahmoud, Junmin Fang-Hoffmann, Georg F. Hoffmann, Hilal Al Rifai, J¨¹rgen G. Okun |
|
Background:
Newborn screening is a precondition for early diagnosis and successful treatment of remethylation disorders and classical homocystinuria (cystathionineß-synthase deficiency). Newborn screening for classical homocystinuria using total homocysteine measurement in dried blood spots has been very successfully performed for many years for newborns from Qatar.
Methods:
A new optimized newborn screening strategy for remethylation disorders and homocystinuria was developed and evaluated for newborns from Qatar using total homocysteine measurement as first-tier and methionine, methionine-phenylalanine-ratio and propionylcarnitine as second-tiers. Proposed cut-offs were also retrospectively evaluated in newborn screening samples of 12 patients with remethylation disorders and vitamin B12 deficiency from Qatar and Germany.
Results:
Over a 12 months period, the proposed strategy led to a decrease in the recall rate in homocysteine screening for Qatar from 1.09% to 0.68%, while allowing for additional systematic inclusion of remethylation disorders and vitamin B12 deficiency into the screening panel for Qatar. In the evaluated period the applied strategy would have detected all patients with classical homocystinuria identified by the previous strategy and in addition 5 children with maternal nutritional vitamin B12 deficiency and one patient with an isolated remethylation disorder. Additional retrospective evaluation of newborn screening samples of 12 patients from Germany and Qatar with remethlyation disorders or vitamin B12 deficiency showed that all of these patients would have been detected by the cut-offs used in the proposed new strategy. In addition, an adapted strategy for Germany using methionine, methionine-phenylalanine-ratio and propionylcarnitine as first-tier, and homocysteine as a second-tier test was also positively evaluated retrospectively.
Conclusions:
The proposed strategy for samples from Qatar allows inclusion of remethylation disorders and vitamin B12 deficiency in the screening panel, while lowering the recall rate. An adapted second-tier strategy is presented for screening in Germany and will be prospectively evaluated over the next years in a pilot project named "Newborn Screening 2020".
Key words: classical homocystinuria; newborn screening; remethylation disorders; second-tier; vitamin B12 deficiency |
|
[Abstract] [Full Text] [PDF]
|
|
Breaking down barriers: enabling care-by-parent in neonatal intensive care units in China
|
|
Xiao-Ying Li, Shoo Lee, Hua-Feng Yu, Xiang Y Ye, Ruth Warre, Xiang-Hong Liu, Jian-Hong Liu |
|
Background:
Denying parents access to their infant in the Neonatal Intensive Care Unit (NICU) is a standard practice in most hospitals across China. Visitation is not usually permitted or may be strictly limited, and NICU care for most neonates is provided by health-care professionals with little participation of the parents. An exception to this rule is the level 2 "Room-In" ward in Qilu Children's Hospital, Shandong University, where parents have 24-hour access to their infants and participate in providing care.
Methods:
This retrospective cohort study compared the outcomes of infants who were admitted to the NICU and remained there throughout their stay (NICU-NICU group, n=428), admitted to the NICU and then transferred to the Room-In ward (NICU-RIn group, n=1018), or admitted straight to the Room-In ward (RIn only group, n=629).
Results:
There were no significant differences in the rates of nosocomial infection, bronchopulmonary dysplasia, intraventricular hemorrhage, and retinopathy of prematurity between the NICU-NICU and NICU-RIn groups. The rate of necrotizing enterocolitis was significantly lower in the NICU-RIn group (P=0.04), while weight gain and duration of hospital stay were significantly higher (both P<0.001). Rates of adverse outcomes were lower in RIn-only infants due to their low severity of illness on admission.
Conclusions:
Allowing parents access to their infant in the NICU is feasible and safe in China, and may result in improvements in infant outcomes. Further studies are required to generate stronger evidence that can inform changes to neonatal care in China.
Key words: care-by-parent; family-centered care; infant; newborn; neonatal intensive care unit; parental involvement |
|
[Abstract] [Full Text] [PDF]
|
|
Comorbidities in Down syndrome livebirths and health care intervention: an initial experience from the birth defects registry in Southern Thailand
|
|
Somchit Jaruratanasirikul, Wannee Limpitikul, Pathikan Dissaneevate, Paveena Booncharoen, Pongsak Tantichantakarun |
|
Background:
Down syndrome (DS) is the most common chromosomal disorder causing mental retardation with a worldwide average prevalence of 1-2 cases per 1000 births. This study aimed to determine the comorbidities associated with DS and the coverage of health care services and developmental interventions for DS livebirths in Southern Thailand.
Methods:
A total of 149 livebirth DS infants, recruited through the prospective birth defects registry system during 2009-2013 in 3 provinces in Southern Thailand, were regularly followed-up every 3-6 months. The data collection form included the infants' demographic data, associated congenital anomalies, and developmental interventions.
Results:
The DS infants were born at an average gestational age of 38.5¡À2.3 weeks with average birth weight of 2760¡À478 g, length 48.5¡À2.2 cm, and head circumference 32.7¡À1.2 cm. Congenital heart diseases, gastrointestinal defects and congenital hypothyroidism were found in 43.0%, 6.7%, and 12.1% of the cases, respectively. The percentage of DS infants who received developmental interventions in this current study were significantly greater than in a previous study covering the years 1992-2002: early stimulation program 90.0% vs. 65.6% (P<0.01), and speech training program 74.8% vs. 38.9% (P<0.01), respectively, and the infants in our study began intervention programs significantly earlier, 0.58¡À0.39 years vs. 1.69¡À0.66 years, respectively.
Conclusions:
Congenital heart disease was the most common comorbidity associated with DS. The coverage of health care services and developmental interventions for DS children has generally improved in Southern Thailand. One hundred percent coverage of health services and interventions for children with special needs is expected in the near future.
Key words: developmental intervention; Down syndrome; trisomy 21 |
|
[Abstract] [Full Text] [PDF]
|
|
Adenotonsillectomy outcomes regarding bone age and osteocalcin in treatment of obstructive sleep apnea syndrome in children
|
|
Qing-Biao Zhang, Yin-Feng Li, Ming-Xiu Li, Ling-Yu Kong, Liang-Fu Jiang, Hui-Wei Feng, Xian-Liang Fan |
|
Background:
To investigate the effect of adenotonsillectomy (AT) on bone development, quality of life and polysomnography evaluation in children with obstructive sleep apnea syndrome (OSA).
Methods:
Preoperative and postoperative (6 months) physical examination, PSG, bone age (BA) and osteocalcin (OC) evaluation were performed on the selected OSA children (n=92) and the healthy children (n=87). The OSA children were also scored based on the OSA 18-item questionnaire. A two-year follow-up was conducted to evaluate BA and OC changes.
Results:
After AT, 81 (88.04%) OSA children recovered completely, eight (8.70%) achieved remarkable improvements, and three (3.26%) achieved moderate improvements. In the OSA children, postoperative OSA 18-item score and the scores of the five domains were significantly higher than preoperative ones. Compared with the preoperative, body mass index (BMI), weight for age Z-sores, height for age Z-sores, weight for height Z-sores and BMI Z-score in the OSA group 6 months after the operation were significantly increased, but no significant difference was detected between the OSA and the control group. The changes of BA and chronological age in the OSA group were significantly different from those in the control group. Two years after AT, BA between the two groups was no longer significantly different. Preoperative serum OC in the OSA group was lower than that in the control group, but increased to normal levels 6 months after AT. Correlation analysis showed serum OC levels were negatively correlated with apnea hyponea index, obstructive apnea index, arousal index, and lowest oxygen saturation.
Conclusions:
After AT, bone growth and development in children with OSA recovered gradually, and the serum OC levels decreased to the normal level. Therefore, preventive measures and positive treatments should be applied to minimize the negative effects of OSA in children.
Key words: obstructive sleep apnea syndrome; OSA-18 score; osteocalcin; polysomnography |
|
[Abstract] [Full Text] [PDF]
|
|
Lesions requiring wound management in a central tertiary neonatal intensive care unit
|
|
Ang¨¦la Meszes, Gyula T¨¢losi, Krisztina M¨¢der, Hajnalka Orvos, Lajos Kem¨¦ny, Zsanett Ren¨¢ta Csoma |
|
Background:
Most of the skin disorders that occur in neonatal intensive care units are due in part to the immaturity and vulnerability of the neonatal skin. Various iatrogenic diagnostic and therapeutic procedures are also conducive to iatrogenic damage. This study was to review the neonates admitted to our neonatal intensive care unit who needed wound management, and to assess the most common skin injuries and wounds, and their aetiology.
Methods:
Data were extracted from medical records of neonates who needed wound management in our Neonatal Intensive Care Unit between January 31, 2012 and January 31, 2013. Information about gestational age, sex, birth weight, area of involvement, wound aetiology, and therapy were collected.
Results:
Among the 211 neonates observed, wound management was required in 10 cases of diaper dermatitis, 7 epidermal stripping, 6 extravasation injuries, 5 pressure ulcers, 1 surgical wound and infection, 1 thermal burn, and 5 other lesions.
Conclusions:
International guidelines in neonatal wound care practice are not available, and further research concerns are clearly needed. Dressings and antiseptic agents should be chosen with great care for application to neonates, with particular attention to the prevention of adverse events in this sensitive population. Team work among dermatologists, neonatologists and nurses is crucial for the successful treatment of neonates.
Key words: epidermal stripping; extravasation injury; neonatal intensive care unit; surgical wound; wound care in neonates |
|
[Abstract] [Full Text] [PDF]
|
|
Effect of prenatal antioxidant intake on infants' respiratory infection is modified by a CD14 polymorphism
|
|
Seo Ah Hong, Eun Lee, Sung Ok Kwon, Kyung Won Kim, Youn Ho Shin, Kang Mo Ahn, Eun-Jin Kim, Jeom-Gyu Lee, Se-Young Oh, Soo-Jong Hong |
|
Background:
Prenatal maternal diet may influence disease susceptibility in offspring with specific genetic backgrounds. We hypothesized that interactions between prenatal antioxidant intake and polymorphisms in immunity genes influence respiratory tract infection (RTI) susceptibility in infants at 12 months of age.
Methods:
This study included 550 infants. In the Cohort for Childhood Origin of Asthma and Allergic Diseases (COCOA) birth cohort study, prenatal maternal diet was assessed by administering a food frequency questionnaire. Infants' cord blood was genotyped for CD14 (rs2569190), TLR4 (rs1927911), and GSDMB (rs4794820) polymorphisms by the TaqMan method.
Results:
Higher prenatal intake of total fruit and vegetables (FV) was associated with the decreased risk of RTI in offspring (P-trend=0.0430). In children with TT genotype at rs2569190, a higher prenatal intake of vitamins A and C, fruits, and total FV decreased RTI risk (P-trend <0.05), while in infants with TC+CC genotype, a higher prenatal intake of fruit increased RTI risk (P-trend <0.05). When analyzing the 3 genotypes, children with TT genotype at rs2569190 were more protected against RTIs compared with those with CC genotype with respect to vitamin C and fruits [odds ratio (OR)=5.04 and OR=10.30, respectively]. In children with CC genotype at rs1927911, RTI risk showed a dose¨Cresponse association with a higher prenatal intake of vitamin C (P for interaction<0.05). A higher prenatal intake of fruits and total FV reduced RTI risk in infants with GA+AA genotype of rs4794820 (P for interaction<0.05).
Conclusion:
Prenatal antioxidant intake may reduce RTI risk in infants and this relationship may be modified by CD14, TLR4, and GSDMB polymorphisms.
Key words: antioxidants; CD14; fruit; polymorphism; respiratory tract infection |
|
[Abstract] [Full Text] [PDF]
|
|
Clinical characteristics of children with hemolytic uremic syndrome in Hangzhou, China
|
|
Shui-Ai Zhao, Bo-Tao Ning, Jian-Hua Mao |
|
Background:
Hemolytic uremic syndrome (HUS) is a main cause of acute renal failure in children. This study aimed to analyze the clinical characteristics of HUS.
Methods:
A retrospective analysis was performed in 46 children with sporadic HUS.
Results:
Of the 46 HUS patients, 20 (43.5%) were diarrhea-related HUS, and 26 (56.5%) were atypical HUS. Anemia, edema, oliguria, hemoglobinuria and hypertension were the most common manifestations. Thrombocytopenia, hyponatremia, hypocalcemia, hyperkalemia, metabolic acidosis, increased fibrinogen and hypocomplementemia were found in most patients. The age of onset (younger than 2 years or not, P=0.009), the duration of oliguria or anuria (more than one week or not, P=0.005), accompanied with extrarenal complications or not (P=0.005), dialysis and plasma exchange (P=0.04) were associated with the mortality rate.
Conclusion:
The age of onset younger than 2 years, oliguria/anuria more than 1 week, and associated with extrarenal complications were predictive factors of poor prognosis.
Key words: hemolytic uremic syndrome; prognosis; therapy |
|
[Abstract] [Full Text] [PDF]
|
|