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2.
Pediatr Neonatol ; 55(6): 459-65, 2014 Dec.
Article in English | MEDLINE | ID: mdl-24875236

ABSTRACT

BACKGROUND: We compared our clinical experience with currently available reference oxygen saturation level (SpO(2)) values from the American Academy of Pediatrics/American Heart Association (AAP/AHA) neonatal resuscitation program guidelines. METHODS: We enrolled 145 healthy full-term neonates; infants showing respiratory distress and those with serious congenital anomalies were excluded. SpO(2) values at every 1 minute until 10 minutes after birth were measured and recorded. Infants were classified into the cesarean section (CS) and normal spontaneous delivery (NSD) groups for evaluating differences. The 10(th) percentiles of SpO(2) at each minute were used as the lower limits of normal oxygen saturation, and these were compared with the lowest target values recommended in the AAP/AHA guidelines. RESULTS: Overall, 130 vigorous full-term neonates (median gestational age: 38 5/7 weeks; body weight at birth: 2405-3960 g) were analyzed. The median SpO(2) were 67% and 89% at the 1(st) and 4(th) minute, respectively. On average, SpO(2) values reached >90% at the 5(th) minute. No statistical differences were noted in the SpO(2) values between the CS and NSD groups after 5 minutes; however, a trend of higher SpO(2) was observed in the NSD group. We noted a gradually increasing trend for SpO(2) values over time, similar to that noted in the AAP/AHA guidelines. However, SpO(2) values at the 10(th) percentiles of each minute within the first 5 minutes in our study were equal to or significantly lower than those in the AAP/AHA guidelines; moreover, at the 10(th) minute, SpO(2) values at the 10(th) percentiles were significantly higher than those in the guidelines. CONCLUSION: The delivery modes did not affect the SpO(2) values of full-term healthy neonates. Discrepancies in SpO(2) changes in full-term neonates not requiring resuscitation between this study and the AAP/AHA guidelines were significant. SpO(2) ranges for each time point within the first 10 minutes after birth should therefore be reevaluated locally.


Subject(s)
Oximetry/methods , Oxygen/blood , Adult , Delivery, Obstetric , Female , Gestational Age , Humans , Infant, Newborn , Pregnancy , Prospective Studies , Reference Values , United States
3.
Int J Nurs Stud ; 50(7): 883-94, 2013 Jul.
Article in English | MEDLINE | ID: mdl-23068310

ABSTRACT

BACKGROUND: Pain and stress agitate preterm infants, interrupting their sleep. Frequent high arousal states may affect infants' brain development and illness recovery. Preserving infants' sleep and relieving their pain during painful procedures are both important for their health. OBJECTIVES: To compare the effectiveness of different combinations of non-nutritive sucking (sucking), oral sucrose, and facilitated tucking (tucking) with routine care on infants' sleep-wake states before, during, and after heel-stick procedures. DESIGN: Prospective, randomised controlled trial. SETTING: Level III Neonatal Intensive Care Unit in Taipei. METHOD: A convenience sample of 110 infants (gestational age 26.4-37 weeks) needing heel sticks were randomly assigned to five combinations of non-pharmacological treatments: sucking-oral sucrose-tucking; sucking-oral sucrose; oral sucrose-tucking; sucking-tucking; and routine care. Infant states, measured by a state-coding scheme, included quiet sleep, active sleep, transition, quiet awake, active awake, and fussing or crying. All states were recorded at 1-min intervals during four phases: baseline, intervention, heel-stick procedures, and recovery. RESULTS: Infants receiving sucking-oral sucrose-tucking or sucking-oral sucrose experienced 52.8% (p=0.023) and 42.6% (p=0.063) more quiet-sleep occurrences than those receiving routine care after adjusting for phase, baseline states, non-treatment sucking during baseline and recovery, positioning, and infants' characteristics. Infants receiving oral sucrose-tucking, sucking-oral sucrose, sucking-oral sucrose-tucking, and sucking-tucking experienced 77.3% (p<0.001), 72.1% (p=0.008), 51.5% (p=0.017), and 33.0% (p=0.105) fewer occurrences of fussing or crying, respectively, than those receiving routine care after adjusting for related factors. CONCLUSIONS: The four treatment combinations differentially reduced infants' high arousal across heel-stick procedures. The combined use of oral sucrose-tucking, sucking-oral sucrose, and sucking-oral sucrose-tucking more effectively reduced occurrences of infant fussing or crying than routine care. Treatment combinations of sucking-oral sucrose-tucking and sucking-oral sucrose also better facilitated infants' sleep than routine care. To preserve infants' sleep, clinicians should use combinations of non-nutritive sucking, oral sucrose, and facilitated tucking to reduce agitation during painful procedures.


Subject(s)
Blood Specimen Collection/methods , Heel , Infant Behavior , Sucking Behavior , Sucrose/administration & dosage , Blood Specimen Collection/adverse effects , Humans , Infant, Newborn , Pain/etiology , Pain Management/methods , Prospective Studies , Sleep , Taiwan , Wakefulness
4.
Pediatr Neonatol ; 53(6): 359-65, 2012 Dec.
Article in English | MEDLINE | ID: mdl-23276440

ABSTRACT

BACKGROUND: The noisy component of bubble continuous positive airway pressure (CPAP) is thought to contribute to breathing efficiency and lung volume recruitment, mainly because of stochastic resonance. The magnitude and frequency of the superimposed noise are vital to this process. We wanted to evaluate the in vitro effect of changing various parameters of the bubble CPAP circuit regarding the magnitude and frequency of pressure oscillations transmitted to the lung model. METHODS: In a bubble CPAP lung model, we immersed different sizes (3.0∼12.5 mm) of the expiratory limb of the CPAP circuit into different depths under water (2.0∼10.0 cm) and used various diameters (2.9∼9.0 cm) of bubble generator bottles. We also varied the compliance of the model lung. We measured the changes in mean, magnitude, and frequency of pressure oscillations transmitted to the lung model at three different flow rates (namely 4, 8, and 12L/minute). RESULTS: Increasing the size and submergence depth of the expiratory limb of a CPAP circuit and decreasing the diameter of the bubble generator bottle intensified the magnitude but diminished the frequency of noise transmitted to the lung model. Decreasing compliance of the lung model intensified both the magnitude and frequency content of pressure oscillations in the model lung. CONCLUSION: The size and submergence depth of an expiratory limb of a CPAP circuit, the diameter of the bubble generator bottle, and the compliance of the model lung all influence the magnitude and frequency of the transmitted pressure waveform. Therefore, these factors may affect lung volume recruitment and breathing efficiency in bubble CPAP.


Subject(s)
Continuous Positive Airway Pressure/instrumentation , Humans , Lung Compliance
5.
Pediatr Pulmonol ; 43(11): 1072-1077, 2008 Nov.
Article in English | MEDLINE | ID: mdl-18972409

ABSTRACT

The endogenous production of nitric oxide (NO) in the upper airways is known to be high, but reports of the exact level vary, especially in newborn infants. Currently there is still no standard methodology for nasal NO measurements in neonates. In this study, we compared the levels of NO from the nasal cavity, and from the lower respiratory tracts in intubated infants together with the differences in nasal NO before and after extubation. A total of 35 intubated infants were enrolled in the study. The sampling was conducted with a fast-response chemoluminescence analyzer using the on-line tidal breathing techniques. The levels of NO in the nasal cavity were sampled using two different methods, namely nasal catheterization (Group 1), and nasal occlusion (Group 2). In both groups, the NO levels in the nasal cavity were found to be significantly higher than in the lower airway (P < 0.001). After extubation, the concentration of nasal NO in Group 1 was found to be significantly lower than before extubation (P < 0.05). There was no difference found between the levels of nasal NO in Group 2 before and after extubation (P = 0.95). Generally speaking, the concentrations of nasal NO in Group 2 were significantly higher than in Group 1 after extubation (P < 0.05). For the sample that used nasal occlusion, the nasal NO levels were more stable before and after extubation and the concentration was not affected by the breathing pattern or crying. The infants were more comfortable as well. We therefore conclude that nasal occlusion is a better method for measuring the levels of nasal NO in infants and neonates.


Subject(s)
Intubation, Intratracheal , Nasal Cavity/chemistry , Nitric Oxide/analysis , Breath Tests/methods , Female , Humans , Infant , Infant, Newborn , Intensive Care Units , Male , Nitric Oxide/metabolism
6.
Pediatr Pulmonol ; 43(4): 371-80, 2008 Apr.
Article in English | MEDLINE | ID: mdl-18293413

ABSTRACT

A positive end-expiratory pressure (PEEP) above the lower inflection point (LIP) of the pressure-volume curve has been thought necessary to maintain recruited lung volume in acute lung injury (ALI). We used a strategy to identify the level of open-lung PEEP (OLP) by detecting the maximum tidal compliance during a decremental PEEP trial (DPT). We performed a randomized controlled study to compare the effect of the OLP to PEEP above LIP and zero PEEP on pulmonary mechanics, gas exchange, hemodynamic change, and lung injury in 26 rabbits with ALI. After recruitment maneuver, the lavage-injured rabbits received DPTs to identify the OLP. Animals were randomized to receive volume controlled ventilation with either: (a) PEEP = 0 cm H2O (ZEEP); (b) PEEP = 2 cm H2O above OLP (OLP + 2); or (c) PEEP = 2 cm H2O above LIP (LIP + 2). Peak inspiratory pressure and mean airway pressure were recorded and arterial blood gases were analyzed every 30 min. Mean blood pressure and heart rate were monitored continuously. Lung injury severity was assessed by lung wet/dry weight ratio. Animals in OLP + 2 group had less lung injury as well as relatively better compliance, more stable pH, and less hypercapnia compared to the LIP + 2 and ZEEP groups. We concluded that setting PEEP according to the OLP identified by DPTs is an effective method to attenuate lung injury. This strategy could be used as an indicator for optimal PEEP. The approach is simple and noninvasive and may be of clinical interest.


Subject(s)
Positive-Pressure Respiration/methods , Respiratory Distress Syndrome/therapy , Animals , Blood Pressure , Disease Models, Animal , Female , Heart Rate , Hydrogen-Ion Concentration , Hypercapnia , Lung/physiopathology , Lung Compliance , Monitoring, Physiologic , Pulmonary Gas Exchange , Rabbits , Random Allocation , Respiratory Mechanics , Severity of Illness Index , Tidal Volume , Total Lung Capacity
7.
Pediatr Neonatol ; 49(6): 223-9, 2008 Dec.
Article in English | MEDLINE | ID: mdl-19166119

ABSTRACT

BACKGROUND: Continuous positive airway pressure (CPAP) is used in infants with respiratory distress and apnea. Bubble CPAP (B-CPAP) and ventilator-derived CPAP (V-CPAP) are two of the most popular CPAP modes, and use different pressure sources. However, few studies have been performed to compare their differences and effectiveness. This study was to determine whether B-CPAP and V-CPAP would have different effects on vital signs and arterial blood gas analysis. METHODS: We performed a randomized crossover study to measure vital signs, including mean blood pressure (MBP), heart rate (HR), and respiratory rate (RR), in 12 ketamine-anesthetized healthy rabbits receiving endotracheal intubation by tracheostomy with B-CPAP or V-CPAP. Arterial blood was also sampled and analyzed for PaO2, PaCO2, HCO3 and pH. RESULTS: We observed statistically significant decreases in RR, pH and PaO2 with corresponding incrases in PaCO2 and HCO3 during the V-CPAP; however, no significant changes from baseline were observed for B-CPAP. Neither modality resulted in statistically significant changes in MBP or HR. Both forms of CPAP altered vital signs and arterial blood gases in a similar manner. There was a trend towards a lower percentage of change from baseline in all variables in B-CPAP compared with V-CPAP. CONCLUSIONS: Our results suggest that B-CPAP seems to be superior to V-CPAP in terms of its effect on arterial blood gases and vital signs. We speculate that B-CPAP could have certain protective effects that better preserve both arterial blood gases and vital signs when compared to V-CPAP. However, the results of this study still need to be tested by clinical study.


Subject(s)
Continuous Positive Airway Pressure/methods , Animals , Blood Pressure , Cross-Over Studies , Heart Rate , Rabbits , Respiratory Physiological Phenomena
8.
Pediatr Neonatol ; 49(5): 166-70, 2008 Oct.
Article in English | MEDLINE | ID: mdl-19133567

ABSTRACT

BACKGROUND: Nitric oxide (NO) in the respiratory tract is an important regulator of pulmonary homeostasis during the perinatal transition. In humans, much of the nitric oxide is derived from the upper airways, and autoinhalation of nasal NO has been suggested to influence pulmonary function. No standard methods for measuring nasal NO in neonates currently exist, and previous studies have reported varying levels of nasal nitric oxide in infants, due to the different measuring methods used. The use of nasal olives with a central lumen placed securely in the nares was recommended as a standardized procedure for the measurement of nasal NO in adults and children in 1999. We attempted to establish a safe, convenient and practical method for measuring nasal NO in healthy newborn infants, and investigated possible correlations between nasal NO and gender, postnatal age, gestational age, birth weight, and the differences between the right and left nostrils. METHODS: Nasal NO was studied in healthy newborn infants within the first 3 postnatal days. Gas was sampled from the nostril, and NO concentrations were determined using a fast response chemiluminescence analyzer. Each newborn infant underwent NO measurements on the first, second and the third postnatal days. Ninety-one newborn infants completed the study. RESULTS: Peak nasal NO in 91 newborn infants was 42.52 +/- 16.82 (mean +/- SD) parts per billion (ppb) (right nostril) and 40.86 +/- 16.08 ppb (left nostril) on the first postnatal day, 48.75 +/- 17.64 ppb (right nostril) and 49.47 +/- 17.26 ppb (left nostril) on the second postnatal day, and 59.65 +/- 19.72 ppb (right nostril) and 59.29 +/- 20.09 ppb (left nostril) on the third postnatal day. Nasal NO increased significantly with postnatal age (p < 0.001). There were no significant differences in nasal nitric oxide between sexes, or in relation to gestational age or birth weight, or between left or right nostrils. CONCLUSION: We conclude that nasal NO increased significantly in the first 3 days of life.


Subject(s)
Infant, Newborn/physiology , Nitric Oxide/analysis , Nose , Breath Tests/methods , Female , Humans , Male , Taiwan
9.
Acta Paediatr Taiwan ; 48(4): 186-90, 2007.
Article in English | MEDLINE | ID: mdl-18265538

ABSTRACT

BACKGROUND: Hypernatremic dehydration amongst exclusively breastfed neonates due to inadequate breastfeeding or underfeeding is a potentially devastating condition. We investigated the epidemiological and clinic features of hypernatremic dehydration. METHODS: We retrospectively reviewed the medical records of neonates that were less than 28 days of age, weighing > or =2000 g with gestational age of 36 weeks born between January 2002 and December 2005, who had meet the criteria of hypernatremic dehydration, including (1) exclusively breastfed; (2) loss of weight 12% or more from birth weight; and (3) serum sodium concentration of at least 150 mmol/L at presentation, that had been subsequently admitted to our institution. RESULTS: Totally nine cases were found during this four-year period, an incidence of 2.3 per 1000 live births. Involved infants' age at presentation ranged from 3 days to 14 days (mean t Standard Deviation = 7 +/- [3.8]); five presented symptoms or signs within the first week of life. Study-involved infants featured a birth-weight loss ranging from 12% to 29% (mean +/- [SD] = 17.0 +/- [5.9]), and also hypernatremia (mean +/- [SD] = 153.5 +/- [3.2] mEq/L ). Sodium concentration of breast milk ranged from 15 mEq/L to 54 mEq/L (mean +/- [SD]= 36.0 +/- [14.32]). Subsequently, all were supplemented with breast milk or, alternatively, formula. None of the study-involved neonates suffered subsequent complications or a relapse of their condition. CONCLUSIONS: Neonatal hypernatremic dehydration due to inadequate breastfeeding or underfeeding would appear to be a rather common problem. In order to avoid serious morbidity and mortality, all breastfed infants should receive regular follow-up by health-care worker. Furthermore, we advocate that all mothers should be taught the skills of breastfeeding, and warning signs of breastfeeding failure and hypernatremia, accompanied with the monitoring of the weight of infants until growth commences, in order to reduce the likelihood of this condition arising, especially for first-time mothers.


Subject(s)
Breast Feeding/adverse effects , Dehydration/etiology , Hypernatremia/etiology , Adult , Female , Humans , Hyperbilirubinemia, Neonatal/etiology , Infant, Newborn
10.
Pediatr Pulmonol ; 41(8): 779-86, 2006 Aug.
Article in English | MEDLINE | ID: mdl-16779837

ABSTRACT

Endogenous nitric oxide (NO) has a key role in pulmonary function, and the application of positive end-expiratory pressure (PEEP) can increase exhaled NO (FE(NO)) in anesthetized animals and isolated lungs. The influence of continuous positive airway pressure (CPAP), which is similar to PEEP, on the FE(NO) level has not been investigated in humans or in animals. The present study was undertaken to determine whether and how the application of CPAP in spontaneously breathing rabbits influences levels of FE(NO). We performed a randomized crossover study to measure FE(NO) levels in 12 ketamine-anesthetized rabbits that were intubated via tracheostomy for bubble CPAP (B-CPAP) or ventilator-derived CPAP (V-CPAP), which are two of the most popular CPAP modes and which have different pressure sources. The baseline FE(NO) level was 23.8 +/- 2.6 ppb, which increased to 27.1 +/- 2.9 ppb (P < 0.001) during V-CPAP and decreased to 18.6 +/- 2.2 ppb (P < 0.001) during B-CPAP. We used one high-frequency oscillatory ventilator to repeat the experiment, in which the conventional ventilation function of the ventilator was used in the baseline and V-CPAP periods, and the high-frequency function was used to replace B-CPAP. Changes in FE(NO) were similar to our previous findings. This study demonstrated that the application of CPAP did influence levels of FE(NO). We speculate that the decrease in FE(NO) during B-CPAP may have been related to the bubble-associated high-frequency oscillation.


Subject(s)
Continuous Positive Airway Pressure , Nitric Oxide/analysis , Animals , Breath Tests , Continuous Positive Airway Pressure/methods , Cross-Over Studies , Rabbits , Random Allocation , Regression Analysis
11.
J Formos Med Assoc ; 104(6): 441-3, 2005 Jun.
Article in English | MEDLINE | ID: mdl-16037836

ABSTRACT

Antenatal identification of choledochal cysts has become increasingly common with advances in prenatal ultrasonography. However, the antenatal diagnosis needs to be confirmed postnatally and a preoperative radiologic evaluation of the cyst prior to complete resection is required. There have been few reports of the application of magnetic resonance cholangiopancreatography in neonates, or in neonates with large choledochal cysts. We describe a neonate with a progressively growing giant choledochal cyst, which was initially detected at 28 weeks' gestation. After delivery, the baby did not feed well and suffered from jaundice and frequent postprandial bilious vomiting. At the age of 11 days, magnetic resonance cholangiopancreatography was used to confirm the prenatal diagnosis and provide a thorough preoperative evaluation. He underwent early resection of the cyst at 15 days of age and recovered uneventfully. Magnetic resonance cholangiopancreatography is an alternative diagnostic method for confirming the antenatal diagnosis of large choledochal cysts in neonates. It may also provide useful diagnostic information for preoperative evaluation.


Subject(s)
Cholangiopancreatography, Magnetic Resonance , Choledochal Cyst/diagnosis , Choledochal Cyst/surgery , Humans , Infant, Newborn , Male
12.
J Formos Med Assoc ; 104(5): 367-9, 2005 May.
Article in English | MEDLINE | ID: mdl-15959606

ABSTRACT

Early-onset neonatal sepsis is usually a multisystem fulminant illness with prominent respiratory symptoms, and typically the infant has acquired the organism from the maternal genital tract during the intrapartum period. In this article, we report a rare case of dizygotic twins where each individual suffered early-onset sepsis caused by a different pathogen. Group B streptococcal (GBS) sepsis was diagnosed in twin A 1 day after birth; sepsis and meningitis caused by Citrobacter koseri was diagnosed in twin B at the age of the 4 days. The mother developed pre-eclampsia and fever and the twins were delivered via cesarean section at 35 week's gestation. Twin A received ampicillin treatment for 14 days and recovered fully. Twin B was treated with ceftriaxone for 4 weeks and follow-up brain ultrasound revealed persistent enlargement of the bilateral-lateral ventricles. When empiric antibiotic is considered for the symptomatic twin of a sibling with early-onset GBS infection, samples of blood and cerebrospinal fluid (CSF) should be obtained for culture study before treatment. Adjustment of antibiotic treatment based on the results of cultures and CSF Gram stain and antibiotic susceptibility test is essential.


Subject(s)
Diseases in Twins/microbiology , Enterobacteriaceae Infections/diagnosis , Meningitis, Bacterial/diagnosis , Sepsis/microbiology , Streptococcal Infections/diagnosis , Twins, Dizygotic , Adult , Anti-Bacterial Agents/therapeutic use , Citrobacter koseri , Diseases in Twins/drug therapy , Enterobacteriaceae Infections/drug therapy , Female , Humans , Infant, Newborn , Meningitis, Bacterial/drug therapy , Meningitis, Bacterial/microbiology , Pre-Eclampsia/complications , Pregnancy , Sepsis/drug therapy , Streptococcal Infections/drug therapy , Streptococcus agalactiae
13.
Acta Paediatr Taiwan ; 45(2): 108-10, 2004.
Article in English | MEDLINE | ID: mdl-15335123

ABSTRACT

Prader-Willi syndrome (PWS) is a multiple-systemic disorder with many manifestations related to hypothalamic insufficiency, with obesity and behavioral problems as the major causes of morbidity and mortality. We describe a 2-day-old boy who initially presented with neonatal hypotonia and was diagnosed as PWS based on abnormal DNA methylation patterns in the small nuclear ribonucleoprotein polypeptide N (SNRPN) gene at the age of one week, despite the absence of other classical features. Molecular diagnosis for PWS, which has become available in recent years, should be considered for neonates with undiagnosed central hypotonia.


Subject(s)
Prader-Willi Syndrome/genetics , Chromosome Deletion , Chromosomes, Human, Pair 15/genetics , Humans , In Situ Hybridization, Fluorescence , Infant, Newborn , Male , Muscle Hypotonia/etiology , Prader-Willi Syndrome/complications , Prader-Willi Syndrome/diagnosis , Time Factors
14.
Acta Paediatr Taiwan ; 45(5): 282-6, 2004.
Article in English | MEDLINE | ID: mdl-15868811

ABSTRACT

BACKGROUND: Cat-scratch disease (CSD) is a well-recognized, benign, self-limited regional lymphadenopathy occurring in immunocompetent patients. Several retrospective studies have demonstrated that CSD occurs at all ages, however, the disease appears to be more common in children. We conducted a retrospective case study of CSD in children presenting at our hospital, and reviewed the relevant literature. METHODS: The medical records for eight children (age range 4-13 years) diagnosed with cat-scratch disease at the Tri-service General Hospital in Taipei from September 1, 1986 to September 1, 2002 were retrospectively reviewed. Clinical manifestations, diagnostic methods, and treatment types were assessed. RESULTS: The male gender predominated (75%); the median age was 8.6 years. The latency period ranged from 7 days to 1 month, with a median diagnostic interval of 8.5 days. There were no deaths. All patients had lymphadenopathy, and the axillary node was the most prevalent site (62.5%). The most common locations for the scratch or inoculation lesions were the hands and/or fingers (62.5%). Three patients were diagnosed from clinical symptoms and history (37.5%), three from serological study (37.5 %), and two using biopsy or aspiration (25%). All patients were given antibiotic treatment. The most commonly used antibiotic was gentamicin (75%), with the average duration of treatment 8.7 days. The average hospital stay was 8 days, with the lymph-node size reduced relative to pretreatment baseline in all except one case. CONCLUSION: In our experience, the long-term prognosis for children with typical CSD is favorable, and gentamicin may be a good antibiotic option.


Subject(s)
Cat-Scratch Disease/diagnosis , Adolescent , Anti-Bacterial Agents/therapeutic use , Biopsy , Cat-Scratch Disease/therapy , Child , Child, Preschool , Female , Hospitals , Humans , Lymph Nodes/pathology , Male , Prognosis , Retrospective Studies , Review Literature as Topic , Skin/pathology
15.
Am J Perinatol ; 20(4): 173-9, 2003 May.
Article in English | MEDLINE | ID: mdl-12874727

ABSTRACT

We report the cases of two male preterm newborns with X-linked centronuclear myopathy (CNM). This is the most severe type of CNM. Each of them presented with generalized hypotonia, weakness, difficulty in swallowing, and respiratory distress at birth. Physical examination of both newborns revealed long thin face, high-arched palate, mild bilateral ptosis, frog-leg posture, and absence of deep tendon reflex. Diagnosis of the disease was made according to fetal history, family history, muscle histopathology, electron microscopy, and genetic analysis. Subdural hemorrhage of brain and subcapsular hematoma of the liver were found at autopsy of Case 1. The results of molecular analysis of Case 2 and his family favored the diagnosis of X-linked CNM. Molecular studies can be easily performed with only minute amount of DNA of patients, and may help the clinician to predict which patients may be at the risk for medical complications.


Subject(s)
Genetic Diseases, X-Linked , Infant, Premature, Diseases/diagnosis , Myopathies, Structural, Congenital/genetics , Fatal Outcome , Genetic Diseases, X-Linked/diagnosis , Humans , Infant, Newborn , Infant, Premature , Male , Microsatellite Repeats , Myopathies, Structural, Congenital/diagnosis , Polymorphism, Single-Stranded Conformational , Protein Tyrosine Phosphatases/genetics , Protein Tyrosine Phosphatases, Non-Receptor
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