An Uncommon Case of Pediatric Neurobrucellosis Associated with Intracranial Hypertension

We present the case of a 4-year-old boy who was admitted to hospital with intracranial hypertension, headache, diplopia, papilledema, and a normal brain MRI. Brucella melitensis in the cerebrospinal fluid was confirmed with PCR assay. We believe that neurobrucellosis should be included in the differential diagnosis when headaches persist following brucellosis. In addition, we suggest that when cerebrospinal fluid culture is negative, PCR may prove to be an optimal alternative tool for an immediate and accurate diagnosis

The emergence of the cortisol circadian rhythm in monozygotic and dizygotic twin infants: the twin-pair synchrony

OBJECTIVE: Studies on the influence of genetic factors on the ontogeny of cortisol circadian rhythm in infants are lacking. This study evaluated the influence of twinning and the heritability on the age of emergence of salivary cortisol rhythm. DESIGN AND SUBJECTS: A longitudinal study was performed using salivary samples obtained during morning and night, at 2, 4, 8, 12, 16, 20 and 24 weeks of postnatal life in 34 infants, 10 monozygotic (MZ) and 7 dizygotic (DZ) twin pairs. Salivary cortisol was determined by radioimmunoassay (RIA). Zigosity was verified by DNA analysis of at least 13 short tandem repeat polymorphisms. Difference of the emergence of cortisol circadian rhythm, within each twin pair, the intraclass correlation coefficient and the heritability index (h(2)) were calculated. RESULTS: The mean (± SEM) age of emergence of salivary cortisol circadian rhythm was similar in MZ and DZ (7·8 ± 1·0 vs 7·4 ± 1·3 weeks). Seven pairs showed coincidence of the emergence of cortisol rhythm. Ten pairs were not coincident; among them the within-pair difference of emergence of salivary circadian rhythm was similar in both MZ and DZ groups. The intraclass correlation coefficients were rMZ = 0·60, P = 0·02; and rDZ = 0·65, P = 0·03, respectively. The heritability index (h(2)) was 0·21 (ns). CONCLUSIONS: Salivary circadian rhythm appeared at the same postnatal age in MZ and DZ twin infants. Although several physiological aspects might be involved, the heritability index, obtained in the present study, suggests less genetic than environmental impact on the age of the onset of the cortisol circadian rhythm. Our data also indicated that each twin-pair show synchrony because they probably shared prenatal and postnatal environmental synchronizers

Stress Responses of Neonates Related to Maternal Characteristics

∙ The authors have no financial conflicts of interest. Purpose: To investigate the pre- and post-heelstick stress response patterns of infants and to identify related maternal factors. Materials and Methods: Fifty-two mothers and their 57 infants were studied. Stress response patterns in neonates were collected by measurements of pulse rate, oxygen saturation, and salivary cortisol. Maternal demographic factors and awakening saliva were collected. Results: Median level of pulse rate of infant increased from 132.1 to 140.4 beats per minute and salivary cortisol was elevated from 0.41 µg/dL to 0.70 µg/dL during the periods of discomfort, while oxygen saturation decreased from 97 % to 95%. Infant’s pulse rate change was negatively correlated with gestational age (GA) (r =- 0.37, p < 0.05), whereas the change of infants ’ salivary cortisol was correlated positively with maternal age (r = 0.29, p < 0.05). GA was the only independently significant predictor of pulse rate responses (R 2 = 0.15, p < 0.05). Influence of maternal age on infants ’ salivary cortisol changes (R 2 = 0.09, p < 0.05) was observed in a stepwis

Adult case of partial trisomy 9q

Background: \ud Complete and partial trisomy 9 is the fourth most common chromosomal disorder. It is also associated with various congenital characteristics affecting the cranio-facial, skeletal, central nervous, gastrointestinal, cardiac and renal systems. Very few cases have been reported in adults. Partial trisomy 9q is also associated with short stature, poor growth and growth hormone deficiency. This is the first reported case of an extensive endocrinology investigation of short stature in trisomy 9q and the outcome of growth hormone treatment.\ud \ud Case Presentation: \ud The case involves a 23-year-old female of pure partial trisomy 9q. The case involves a 23-year old female with pure partial trisomy 9q involving a duplication of 9q22.1 to q32, de novo, confirmed by genetic studies using fluorescene in situ hybridization (FISH) method. The diagnosis was at 6 years of age. She did not demonstrate all the congenital morphologies identified with trisomy 9q disorders especially in relation to multi-organ morphologies. There is also a degree of associated intellectual impairment. At prepuberty, she was referred for poor growth and was diagnosed with partial growth hormone deficiency. She responded very well to treatment with growth hormone and is currently living an independent life with some support.\ud \ud Conclusions: \ud Trisomy 9q is associated with short stature and failure to thrive. Growth hormone deficiency should be identified in cases of trisomy 9q and treatment offered. This is the first reported case of response to growth hormone replacement in partial trisomy 9

Ocular medicines in children: the regulatory situation related to clinical research

<p>Abstract</p> <p>Background</p> <p>Many ocular medications are prescribed for paediatric patients, but the evidence for their rational use is very scant. This study was planned to compare the availability and the licensing status of ocular medications marketed in Italy, the United Kingdom (UK), and the United States of America (USA) related to the amount of published and un-published RCTs testing these drugs in the paediatric population.</p> <p>Methods</p> <p>A quantitative analysis was performed to evaluate the number of ocular medications with a paediatric license in Italy, the UK, and the USA. A literature search was also performed in MEDLINE, EMBASE, and The Cochrane Central Register of Controlled Trials for randomized controlled trials (RCTs) on ophthalmic pharmacological therapy in children aged < 18 years, published up to December 2010. A search in the international clinical trial registries, the list of paediatric investigation plans (PIPs) approved by European Medicines Agency (EMA), and the table of medicines with new paediatric information approved by Food and Drug Administration (FDA) was also performed.</p> <p>Results</p> <p>In all, of 197 drugs identified, 68 (35%) single drugs are licensed for paediatric use at least in one considered country, while 23 (12%) were marketed in all three countries. More specifically, in Italy 43 single drugs (48% of those marketed) had a paediatric license, while 39 (64%) did in the UK and 22 (54%) did in the USA. Only 13 drugs were marketed with a paediatric license in all countries.</p> <p>The percentage of drugs licensed for paediatric use and for which at least one RCT had been performed ranged between 51% in Italy and 55% in the USA. No published RCTs were found for 11 (48%) drugs licensed for paediatric use in all three countries. In all, 74 (35%) of the retrieved RCTs involved mydriatic/cycloplegic medications.</p> <p>A total of 62 RCTs (56% completed) on 46 drugs were found in the international clinical trial registries. Cyclosporin and bevacizumab were being studied in many ongoing trials. Twenty-six drugs had new paediatric information approved by FDA based on new paediatric clinical trials, while only 4 PIPs were approved by EMA.</p> <p>Conclusions</p> <p>There is a pressing need for further research and clinical development in the pediatric ophthalmic area, where effective up-to-date treatments, and additional research and education on use in children, remain priorities.</p

Phagocytic ability of neutrophils and monocytes in neonates

<p>Abstract</p> <p>Background</p> <p>Infections by a variety of pathogens are a significant cause of morbidity and mortality during perinatal period. The susceptibility of neonates to bacterial infections has been attributed to immaturity of innate immunity. It is considered that one of the impaired mechanisms is the phagocytic function of neutrophils and monocytes. The purpose of the present study was to investigate the phagocytic ability of neonates at birth.</p> <p>Methods</p> <p>The phagocytic ability of neutrophils and monocytes of 42 neonates was determined using the Phagotest flow cytometry method, that assesses the intake of <it>E. Coli </it>by phagocytes, in cord blood and in peripheral blood 3 days after birth. Fifteen healthy adults were included in the study as controls.</p> <p>Results</p> <p>The phagocytic ability of neutrophils in the cord blood of neonates was significantly reduced compared to adults. The 3^rdpostnatal day the reduction of phagocytic ability of neutrophils was no longer significant compared to adults. The phagocytic ability of monocytes did not show any difference from that of adults either at birth or the 3^rdpostnatal day.</p> <p>Conclusions</p> <p>Our findings indicate that the intake of <it>E. Coli </it>by phagocytes is impaired at birth in both preterm and full term neonates compared to adults. This defect is transient, with the phagocytic ability in neonates reaching that of the adults 3 days after birth.</p

Ophthalmologic features of progeria Hutchinson - Gilford

Purpose: To establish the natural history of ophthalmic characteristics in Progeria patientsby identifying the range of characteristics and to develop more effective treatments.Methods: Chart review of patients with Progeria who were seen between 2007 and 2016 atBoston Children’s Hospital. 14 patients (28 eyes) were included for statistical analysis from atotal of 84 patients who have been enrolled in clinical trials for Progeria at Boston Children’sHospital. Clinical treatment trial patients who were not seen at the Department ofOphthalmology at our hospital, but for whom we had detailed clinical ophthalmologicrecords, were also included. This essentially represents an estimated 20% of the world’sknown patients with Progeria.Results: Ophthalmic manifestations noted were hyperopia and signs of ocular surfacedisease due to nocturnal lagophthalmos and exposure keratopathy. Additional ophthalmicmanifestations included reduced brow hair, madarosis, and reduced accommodation. Mostpatients had relatively good acuity, however advanced ophthalmic disease was associatedwith reduced acuity.Conclusions: Children with Progeria are at risk for serious ophthalmic complications due toocular surface disease. Children with Progeria should have an ophthalmic evaluation at thetime of diagnosis and at least yearly after that. Aggressive ocular surface lubrication isrecommended, including the use of tape tarsorrhaphy at night.Σκοπός: Ο προσδιορισμός της οφθαλμολογικής εξέλιξης των ασθενών με προγηρία, ο καθορισμός του εύρους των οφθαλμολογικών χαρακτηριστικών τους και η ανάπτυξη περισσότερο αποτελεσματικών μεθόδων θεραπείας.Μεθοδολογία: Ανάλυση των οφθαλμολογικών χαρακτηριστικών ασθενών με προγηρία, οι οποίοι εξετάστηκαν μεταξύ 2007 και 2016 στο Νοσοκομείο Παίδων την Βοστώνης (BostonChildren’s Hospital). 14 ασθενείς (28 οφθαλμοί) περιλήφθηκαν για στατιστική ανάλυση,από ένα σύνολο 84 ασθενών που συμμετέχουν σε κλινικές μελέτες για την προγηρία στο Νοσοκομείο Παίδων της Βοστώνης. Ασθενείς οι οποίοι δεν εξετάστηκαν στο Οφθαλμολογικό Τμήμα του νοσοκομείου μας, αλλά για τους οποίους υπήρχαν λεπτομερείς καταγραφές των οφθαλμολογικών ευρημάτων επίσης συμπεριελήφθησαν σε αυτή τη μελέτη. Η έρευνα αυτή περιέλαβε περίπου το 20% των παγκοσμίων γνωστών ασθενών με προγηρία. Αποτελέσματα: Τα οφθαλμολογικά ευρήματα που εντοπίστηκαν ήταν υπερμετρωπία,καθώς και σημεία νόσου της οφθαλμικής επιφάνειας οφειλόμενης σε νυκτερινό λαγόφθαλμο και έκθεση του κερατοειδούς. Επιπρόσθετα οφθαλμολογικά ευρήματα ήταν ελαττωμένη τρίχωση στα φρύδια, μαδάρωση και ελαττωμένη προσαρμοστικότητα. Οι περισσότεροι ασθενείς είχαν σχετικά καλή οπτική οξύτητα, παρόλα αυτά προχωρημένη οφθαλμική νόσος συνοδευόταν με μειωμένη οπτική οξύτητα.Συμπεράσματα: Παιδιά με προγηρία έχουν κίνδυνο σοβαρών οφθαλμολογικών επιπλοκών λόγω νόσου της οφθαλμικής επιφάνειας. Παιδία με προγηρία πρέπει να υποβληθούν σε οφθαλμολογική εξέταση τη στιγμή της διάγνωσης και να έχουν ετήσια επανεξέταση. Συνιστάται σχολαστική ενυδάτωση της οφθαλμικής επιφάνειας και επίδεση κατά τη διάρκεια της νύχτας