Reappraisal of the Subtropical Guidelines on Palivizumab Prophylaxis in Congenital Heart Disease

Objective: To define the impact of associated abnormalities on the efficacy of the novel subtropical guidelines for palivizumab prophylaxis on respiratory syncytial virus (RSV)-related hospitalizations in patients with hemodynamically significant congenital heart disease (hsCHD).Method: This prospective study enrolled every patient seen at a tertiary care center for hsCHD, who was born between 2014 and 2018 and received at least 1 dose of palivizumab, according to the subtropical guidelines. The patients were followed until the age of 2 years.Results: A total of 772 patients (49% male) were enrolled. Cyanotic CHD was seen in 46% of patients, of whom 23% had associated abnormalities. Lung/airway abnormalities (14%) were the most common followed by the genetic syndromes associated with CHD (7.3%). Among the 772 patients, RSV-related hospitalizations occurred in 3.2 and 2.2% children aged ≤ 12 and 13–24 months, respectively. Most of the RSV infections occurred in patients no longer satisfying the criteria for palivizumab prophylaxis. The patients with associated abnormalities but not the type of CHD, patient age, and patient sex were risk factors for RSV-related hospitalizations. The rates of RSV-related hospitalizations, admission to the intensive care unit, and endotracheal intubation were higher for patients with associated anomalies than for other patients before 24 months of age (10.2 vs. 4.0%, 67 vs. 33%, and 39 vs. 4.2%, p = 0.004, 0.06, 0.013, respectively).Conclusion: Children with abnormalities, especially genetic syndromes and lung/airway problems associated with CHD, are at high risk for RSV-related hospitalization. Our current subtropical guidelines for palivizumab prophylaxis in patients with hsCHD, should be revised to include the results of this study.

Clinical profile of new borns with trachea-esophageal fistula and esophageal atresia and factors associated with outcome at a tertiary care centre

Although trachea-esophageal fistula (TEF) and esophageal atresia (EA) is rare, it is one of the most common congenital anomaly. There is paucity of data due to rarity of condition. More and more data on clinical profile, complications, and outcome are needed to guide the future research. To study clinical profile of newborns with TEF and EA and factors associated with outcome.Hospital based prospective study was carried out among 21 newborns with TEF and EA. Diagnosis was confirmed by investigations like X-ray chest after passing nasogastric catheter. Depending upon final diagnosis type of surgery required was determined and procedure was carried out as per the standard guidelines and operating techniques. All cases were followed till the complete post-operative period and the complications and outcome was assessed. Outcome was classified as death or discharge.Males outnumbered females giving a male to female ratio of 2.5:1. 57.1% did not require ventilator pre-operatively. 61.9% of the cases had no associated abnormality. The most common type of surgery required and performed was tracheoesophageal repair in 52.4% of the cases. Two cases (9.5%) died during the post-operative period. 14 cases (66.7%) recovered and were discharged. Most common complication was anastomotic leak (57.1%). Term status and associated abnormalities were not found to be associated with outcome like death (p>0.05). Trachea-esophageal fistula and esophageal atresia was more common in males. Tracheoesophageal repair was commonly required surgery. Recovery rate was good. Anastomotic leak was most common complication. Outcome like death was not associated with term status and associated abnormalities.

CT of cardiac and extracardiac vascular anomalies: embryological implications

Background Congenital heart disease (CHD) is the most common neonatal anomaly. Extracardiac findings are commonly associated with CHD. It is mandatory to evaluate extracardiac structures for potential associated abnormalities that might impact the surgical planning for these patients. The purpose of this study was to determine the extracardiac abnormalities that could associate cardiac anomalies and to give insights into their embryological aberrations. Results Thirty-two pediatric patients (22 males and 10 females) underwent CT angiography to assess CHD. Diagnosis of the CHD and associated extracardiac findings were recorded and tabulated by organ system and type of CHD. Retrospective ECG-gated low-peak kilovoltage (80Kvp) technique was used on 128MDCT GE machine. Patients were diagnosed according to their CHD into four groups: chamber anomalies 90%, septal anomalies 81.3%, conotruncal anomalies 59.4%, and valvular anomalies 59.4%. Extracardiac findings were found in 28 patients (87.5%) with a total of 76 findings. Vascular findings were the most prevalent as 50 vascular findings were observed in 28 patients. Aortic anomalies were the commonest vascular anomalies. Fourteen thoracic findings were observed in 12 patients; of them lung consolidation patches were the most common and 12 abdominal findings were found in seven patients, most of findings were related to situs abnormalities. Conclusion Extracardiac abnormalities especially vascular anomalies are commonly associating CHD. Along with genetic basis, aberrations in dynamics of blood flow could represent possible causes of this association.

Numerical abnormalities of permanent dentition - a case report

Tooth number abnormalities may occur under the influence of genetic or environmental factors which intervene in the tooth formation stages (induction and proliferation), most commonly the permanent dentition being affected. The result is the appearance of dental anomalies with numerical deficiency (hypodontia, anodontia), or with dental excess (hyperodontia, over-teeth). In this paper we report a case of a 15-year-old boy with associated abnormalities of permanent dentition: mesiodens and palatal impacted cuspid at the maxillary dental arch and incisor anodontia at the mandibular dental arch. Orthodontic treatment aimed at resolving maxillary dental crowding, obtaining dental alignment, a stable and functional occlusal relationship and a satisfactory smile for the patient.

Accumulation of auranofin in white adipose tissues lowers leptin levels and exerts anti-diabetic effects

SUMMARYLow-grade, sustained inflammation in white adipose tissue (WAT) characterizes obesity and frequently coincides with insulin resistance and type 2 diabetes (T2D). However, pharmacological targeting of WAT inflammation lacks durable therapeutic effects. Through a computational screen, we identified the FDA-approved rheumatoid arthritis drug auranofin is a putative small molecule for obesity treatment. We discovered that allometrically scaled safe auranofin doses homed to WAT and improved insulin sensitivity in obese wild-type mice. Auranofin treatment also normalized other obesity-associated abnormalities, including hepatic steatosis and hyperinsulinemia. Surprisingly, the anti-diabetic effects of auranofin required leptin lowering and beta-adrenergic receptors in WAT. These metabolic benefits of leptin reduction were superior to any immune impacts of auranofin in WAT. Our studies reveal important metabolic properties of anti-inflammatory treatments and contribute to the notion that leptin reduction in the periphery can be accomplished to treat obesity and T2D.

Encephalocele: know it to deal with it

Background Encephaloceles refer to the herniation of intracranial contents through the defect in the dura and calvarium. This article aims to equip the radiologists with all the necessary information to approach a case of encephalocele in a systematic manner and report in an organized format. Thus reduce the reporting time without overlooking any detail. Main text An extensive literature review was performed searching through the standard textbooks and electronic databases to obtain thorough information on the various encephaloceles particularly from a radiological point of view. The author’s observations were also incorporated in the review. Among the available imaging modalities, magnetic resonance imaging is the most versatile and considered the imaging modality of choice because of superior anatomic resolution in the characterization of central nervous system malformation. This study provides the reporting radiologist with a methodical guide to approach a case of encephalocele discussing the imaging protocol, relevant anatomy, classification, associated abnormalities, and imaging prognostic factors. Conclusion Encephalocele has always been a subject of predicament for radiologists. Understanding the relevant terminologies, anatomy, imaging protocols, classification, associated malformations/anomalies, and imaging prognostic factors will help to methodically approach each case and provide a systematic and comprehensive report.

Prenatal Diagnosis of Congenital Cataract: Sonographic Features and Perinatal Outcome in 41 Cases

Purpose To describe the prenatal ultrasonographic characteristics and perinatal outcomes of congenital cataract. Materials and Methods We analyzed congenital cataract diagnosed prenatally at four referral centers between August 2004 and February 2019. The diagnosis was confirmed by postnatal ophthalmologic evaluation of liveborn infants or autopsy for terminated cases. Maternal demographics, genetic testing results, prenatal ultrasound images, and perinatal outcomes were abstracted. Results Total of 41 cases of congenital cataract diagnosed prenatally among 788 751 women undergoing anatomic survey. Based on the sonographic characteristics, 16/41 (39.0 %) had a dense echogenic structure, 15/41 (36.6 %) had a hyperechogenic spot and 10/41 (24.4 %) had the “double ring” sign. 17/41 (41.5 %) were isolated, and 24/41 (58.5 %) had associated intraocular and extraocular findings. Microphthalmia, cardiac abnormalities, and central nervous system abnormalities were the most common associated abnormalities. Regarding potential etiology, 6 cases had a known family history of congenital cataract, 4 cases had confirmed congenital rubella infection, and 2 cases had aneuploidy. 31/41 (75.6 %) elected termination and 10/41 (24.4 %) elected to continue their pregnancy. Among the 10 cases, one case died, one case was lost to follow-up, and the remaining 8 cases were referred for ophthalmologist follow-up and postnatal surgery. Conclusion Once fetal cataracts are detected, a detailed fetal anatomy survey to rule out associated abnormalities and a workup to identify the potential etiology are recommended. Prenatal diagnosis of congenital cataracts provides vital information for counseling and subsequent management.

Prenatal ventriculomegaly: natural course, survival, and neurodevelopmental status

OBJECTIVE Prenatal ventriculomegaly is classified as mild, moderate, or severe based on the atrium diameter. The natural course and intrauterine progression of mild and moderate ventriculomegaly associated with the neurodevelopmental status of these children has been widely reported. METHODS One hundred twenty-two pregnancies with mild and moderate ventriculomegaly referred to the pediatric neurosurgery clinic of Children’s Medical Center between 2010 and 2018 were retrospectively studied. The authors collected demographic and first and sequential ultrasonographic information, associated abnormalities, information about pregnancy outcomes, and the latest developmental status of these children according to Centers for Disease Control and Prevention criteria by calling parents at least 1 year after birth. RESULTS The mean gestational age at the time of diagnosis was 29.1 weeks, and 53% of fetuses were female. The width of the atrium was registered precisely in 106 cases, in which 61% had mild and 39% had moderate ventriculomegaly. Information on serial ultrasound scans was collected in 84 cases in which ventriculomegaly regressed in 5, remained stable in 67, and progressed in 12 patients. Fourteen cases (29.7%) in the mild ventriculomegaly group and 6 cases (16.2%) in the moderate group had associated abnormalities, with corpus callosum agenesis as the most frequent abnormality. The survival rate was 80% in mild and 89.4% in moderate ventriculomegaly. Considering survival to live birth and progression of the ventriculomegaly, the survival rate was 100% in regressed, 97% in stable, and 41.6% in progressed ventricular width groups (p < 0.001). Neurodevelopmental status was evaluated in 73 cases and found to be normal in 69.8% of the cases; 16.4% of children had mild delay, and 5.4% and 8.2% of cases were diagnosed with moderate and severe delays, respectively. CONCLUSIONS In spite of a high rate of missed data in our retrospective study, most patients with mild or moderate ventriculomegaly had a stable or regressed course. Most cases had near-normal developmental status. Prospective studies with a larger sample size and detailed developmental evaluation tests are needed to answer the questions related to the natural course, survival, and prognosis of prenatal ventriculomegaly.

Congenital Anophtalmia: Two Cases Report

Anophthalmia is a rare condition that is estimated to have an incidence of 1 in 10 000 live births. These ocular malformations may be unilateral or bilateral, and may be isolated or occur with other malformations as part of a syndrome. The etiology is heterogeneous and remains unknown. Prenatal diagnosis, which is now available, allows for the early diagnosis of these diseases and the identification of other malformations or signs that may prejudge the prognosis, which must be carefully explained to parents. The prognosis is variable and depends on severity, associated abnormalities and the underlying genetic cause. Reported cases of anophthalmia generally represent severe microphthalmia; true primary anophthalmia is rarely compatible with life secondary to associated brain abnormalities.

Developmental dysplasia of the hip and associated risk factors in Saudi children: A retrospective study

BACKGROUND: Studies investigating the association between developmental dysplasia of the hip (DDH) and risk factors in Saudi Arabia are rare. OBJECTIVE: Investigate the association between DDH and several risk factors among Saudi children. METHODS: The medical records of 82 children born in or admitted to King Abdul Aziz Medical City in Riyadh, Saudi Arabia with clinical suspicion of hip dislocation (HD) were included. The association between DDH and the following risk factors was investigated: age < 3 y, female-gender, twinning, first-born child, C-section, breech presentation, prematurity, positive family history and presence of associated abnormalities. RESULTS: HD was confirmed in 73 (89%) children (Positive HD) and excluded in 9 (11%) children (Negative HD). Eleven (13.4%) children were excluded from the positive cases as it was confirmed that they have paralytic hip dislocation not DDH. DDH was confirmed in 62 children (75.6%). The Chi square test (χ2) and odds ratios (OR) revealed that the positive family history, female-gender, age < 3 years, and presence of associated abnormalities had significant associations with the presence of DDH with P values and OR equal 0.00 (16.4), 0.002 (3.1), 0.005 (2.6), and 0.04 (1.9) respectively. Breech presentation, twinning, first-born children, prematurity, and C-section were not associated with DDH with P values and OR equal 0.93 (1.1), 0.46 (0.4), 0.11 (0.4), 0.08 (0.3), and 0.002 (0.3) respectively. CONCLUSIONS: Positive family history, female-gender, age < 3 years, and presence of associated abnormalities had approximately 16, 3, 2.5, and 2 times increased risk for DDH.