The outcome of two SMA cases treated with nusinersen at seven hours and at three days of life: the earliest ever.

New molecular therapies are available for the treatment of spinal muscular atrophy (SMA) but early intervention is required. We report two cases that were diagnosed prenatally, where treatment with nusinersen was initiated within 7 h and three days respectively. The children were followed up for 13 months and almost six years respectively. Both children have developed within entirely normal centiles, indicating that initiating treatment immediately after birth, as in these cases, is essential for a good outcome.

Accuracy of lung ultrasonography in the diagnosis of respiratory distress syndrome in newborns.

Objectives: Lung ultrasonography has become an important tool in the diagnosis and follow-up of lung diseases in the newborn period in recent years. Lung diseases such as pneumonia, transient tachypnea of the newborn and respiratory distress syndrome (RDS) can be diagnosed with lung ultrasound. Lung USG is a simple, practical and low-cost method in diagnosing neonatal RDS.Methods: This study was performed in Hacettepe University Neonatal Intensive Care Unit From December 2015 to February 2017. Forty patients who were diagnosed as RDS and given surfactant [200 mg/kg poractant alfa (CUROSURF®, Chiesi, Italy) intratracheal Suspension] were included in the study. Lung ultrasonography was performed at the bedside by a single expert, once before surfactant treatment and three times after surfactant treatment. Post-treatment ultrasonographic examinations were carried out at 2, 4 and 6 h after surfactant treatment.Results: Before surfactant treatment, lung USG findings of patients were as follows: lung consolidation with air bronchograms (40/40), B-pattern (36/40), pleural line abnormalities (37/40), severe B-pattern (12/40) and disappearance of A-lines in all USG of patients. In the second hour of treatment, we did not see any valuable change or difference in lung USG findings of patients. The only change was the disappearance of air bronchograms and lung consolidation in five patients. Four hours after treatment we saw a reduction in lung consolidation in 14 patients, B-pattern had decreased in 15 patients, the appearance of A-lines and spared areas. But after 6 h, we started to see A-lines clearly, loss of B-pattern, an appearance of pleural line, and lung sliding in nearly all patients except three.Conclusion: Ultrasound is nonionizing and gives no hazard to the patient. Also, making it bedside is feasible and comfortable than other methods. Responsive and unresponsive patients to surfactant treatment can be determined in the early course of the disease and the cases needing re-treatment can be diagnosed easily by performing lung USG. This review focuses on ultrasonographic changes of the lung after surfactant treatment in premature newborns.

The Effect of Asthma Severity on Perinatal Outcomes: A Tertiary Hospital Experience.

OBJECTIVE: To evaluate the effect of asthma severity and disease exacerbation on pregnancy outcomes. MATERIALS AND METHODS: Pregnancies were classified into 3 groups as mild (n=195), moderate (n=63), and severe (n=26) according to preconceptional asthma severity. Demographic features, clinical characteristics, and perinatal outcomes were compared between the groups. Delivery characteristics and pregnancy outcomes were also compared between the pregnancies with or without asthma exacerbation (43 and 241 pregnancies, respectively). RESULTS: Worsening of symptoms during pregnancy was higher in moderate and severe asthma groups (p<0.001). Rates of spontaneous abortion, fetal structural anomaly, preterm delivery, preeclampsia, fetal growth restriction (FGR), oligohydramnios, gestational diabetes, and intrauterine fetal demise were higher in moderate and severe asthma groups (p-values were < 0.001, 0.01, 0.008, 0.02, 0.01, < 0.001, < 0.001, and 0.007, respectively). Admissions to neonatal intensive care units and neonatal complication rates were higher among moderate and severe asthma groups (p=0.035 and < 0.001). Spontaneous abortion, preterm delivery, preeclampsia, FGR, oligohydramnios, and neonatal complication rates were higher (p<0.001) in the group with exacerbated symptoms. CONCLUSION: Moderate to severe asthma before pregnancy and the exacerbation of asthma symptoms during pregnancy may lead to increased rates of perinatal complications.

The effectiveness of an integrated BIM/UAV model in managing safety on construction sites.

Introduction. A variety of approaches exist to achieve better construction safety performance, but only a few consider a combination of building information modeling (BIM) and unmanned aerial vehicles (UAVs). Method. This article presents a four-dimensional (4D) BIM/UAV-enabled safety management model based on IDEF0 language. In the first step, potential hazards are identified with the help of safety specialists' experiences and BIM software used in the design of the structure. Then, a UAV monitors the location of the potential hazards. The third step involves the integration of the 4D BIM-based model and the information obtained from the UAV. Finally, the combined data are analyzed and interpreted, and site safety staff are notified about measures to be put in place to prevent accidents. Results. This model shows a strong relationship between the design and construction phases by using BIM in the design phase and UAVs in the construction phase. The proposed safety model was evaluated by construction safety specialists in a two-pronged approach. Conclusion. The number of fatal, non-fatal and property damage-causing accidents may be significantly lower when the proposed system was used. Practical application. This model allows safety specialists to identify hazards and develop suitable mitigation strategies.

Gestational Outcomes of Pregnancies with Prenatally Detected Gastroschisis and Omphalocele.

Objective: To evaluate and compare the outcomes of pregnancies with prenatally detected gastroschisis and omphalocele. Materials and Methods: We retrospectively evaluated prenatally detected gastroschisis and omphalocele cases. Cases were compared in terms of maternal demographic and clinical characteristics as well as pregnancy and neonatal outcomes. Results: This study consisted of 17 gastroschisis and 30 omphalocele cases. Only one case with gastroschisis was terminated due to additional severe limb deformities. Seventeen out of 30 cases of omphalocele were terminated for various reasons (56.7%). All patients with gastroschisis had surgical repair, while 8 out of 13 omphalocele cases had surgery. One patient with an omphalocele died after surgery due to sepsis. Six cases of gastroschisis also died in the neonatal period due to various reasons (6/16, 37.5%). Conclusion: Additional genetic disorders are more frequent in those with omphalocele cases, and they are more frequently terminated during gestation that the gastroschisis fetuses.

Hypotonia and poor feeding in an infant exposed to lamotrigine and valproic acid in utero.

Lamotrigine has been considered a safe new-generation antiepileptic drug during the perinatal period for both mothers and infants. Despite the concerns regarding its possible teratogenic effect, very limited data have been reported on the adverse effects of perinatal lamotrigine exposure. Herein, we report a case of an infant with hypotonicity and poor feeding who was exposed to lamotrigine in utero. The drug interaction probability scale indicated a probable relationship between sepsis-like symptoms and exposure to lamotrigine and valproic acid in utero in this infant.

A newborn with overlapping features of AEC and EEC syndromes.

Ectrodactyly, ectodermal dysplasia, clefting (EEC) syndrome is the prototype of several p63 conditions, which include ankyloblepharon, ectodermal dysplasia, clefting (AEC) syndrome, limb-mammary syndrome (LMS), Rapp-Hodgkin syndrome (RHS), ADULT syndrome, and others. All these disorders include combinations of ectodermal dysplasia, orofacial clefting and limb malformations in variable severity. A newborn patient is presented with diffuse erythematous and desquamating skin lesions and anal atresia. She also had sparse and lightly colored thin hair, deeply set eyes, hypoplastic alae nasi, and a short philtrum. Cleft lip/palate and ankyloblepharon were not present. Complete cutaneous syndactyly was present on both hands in between the third and fourth fingers. Mild ectrodactyly was evident on all four extremities in between first and second digits. There was post-axial polydactyly on both feet. Anal atresia was present and defecation occurred through a rectovaginal fistula. The patient represented an interesting overlapping clinical condition between AEC and EEC syndromes. Diffuse skin lesions with excoriation and desquamation suggest AEC syndrome, despite the absence of ankyloblepharon, however; ectrodactyly and polydactyly strongly suggest the EEC syndrome. C308Y mutation in exon 8 of TP63 gene was detected, which was previously described to lead only to EEC syndrome and not to any of the other allelic conditions. These data emphasize the large degree of clinical variability that may be seen for specific TP63 mutations.

Subtelomeric rearrangements in mental retardation: Hacettepe University experience in 130 patients.

Recent reports have revealed the presence of subtelomeric rearrangements in 0.5-1.1% of patients with mild mental retardation and in 6.8-7.4% of patients with moderate-severe mental retardation. In the present study, 130 patients with unexplained mental retardation were tested using fluorescence in situ hybridization (FISH) analysis for the first time in a large group of Turkish patients, in order to determine the frequency of subtelomeric rearrangements. Three patients had such rearrangements. We present the clinical findings in these patients with (1) coexistent 9p subtelomeric monosomy and 4q subtelomeric trisomy, (2) 22q13.3 subtelomeric monosomy, and (3) coexistent 4p subtelomeric monosomy and 8p subtelomeric trisomy. Mild retardation without dysmorphic features in one of these patients suggests offering subtelomeric analysis to a wide spectrum of mental retardation.

Influenza vaccine adverse event and effect on acceptability in pediatric residents.

Despite the demonstrated benefits of influenza vaccinations, the coverage is lower than expected among health-care personnel (HCP). In this study we surveyed the attitudes of pediatric residents regarding influenza immunization and adverse reactions. Forty-five female and 35 male pediatric residents with ages ranging from 24 to 28 years were vaccinated with an influenza vaccine on 2 days in the 3rd week of September 2005 by the same nurse. Among our resident, 27 (33.7%) thought the vaccine unnecessary; their vaccine coverage was only 12% in the previous year. Thirteen residents (16%) had soreness at the vaccination site; 7 (8%) had other local reactions that did not interfere with everyday activities, and 16 (20%) had any systemic side effects. The overall rate of side effects from the vaccination was 36.5% (n=29). Twenty of the 29 vaccinees who experienced side effects stated they did not want to receive the vaccine the following year because of the side effects, while 13% in the group without side effects stated the same thing, mainly because of the cost of vaccination. We would like to recommend an influenza vaccination campaign for HCP by employers, but first we must plan to take steps to improve the acceptability of the influenza vaccine among HCP.

Prolonged cellulitis due to plant thorn.

We report the case of a five-year-old healthy boy who was admitted with abscess and soft tissue infection between the left wrist and the distal end of the forearm. Postero-anterior X-ray examination of the forearm showed a transverse line on the radius; however, further comparative radiographic examinations of the forearm were not compatible with fracture. Enterobacter cloacae was identified in the pus culture and initial intravenous empiric treatment with sulbactam-ampicillin was continued. Although the microorganism was susceptible to the empiric antimicrobial agent, at the eighth day of the treatment, inflammatory drainage was still present so further evaluations were performed. Ultrasonography of the forearm and wrist revealed only collection; magnetic resonance imaging showed a foreign body on the anterior distal section of the left forearm. The patient underwent operation and a 22 mm wooden foreign body was removed. Detailed history after removing a tree branch particle revealed that the boy had recently fallen from a tree causing an abrasion over the left wrist. The postoperative course was uneventful and clinical response was excellent in two days. In view of this case report, we would like to emphasize the importance of medical history and imaging studies in cases of cellulitis that do not respond to appropriate antimicrobial therapy. Another point to be kept in mind is that Enterobacter cloacae, which is very rarely reported as a causative agent for cellulitis, could be the etiological agent in cases after plant thorn injuries.