scholarly journals Anterior Pituitary Aplasia in an Infant with Ring Chromosome 18p Deletion

2016 ◽  
Vol 2016 ◽  
pp. 1-5 ◽  
Author(s):  
Edward J. Bellfield ◽  
Jacqueline Chan ◽  
Sarah Durrin ◽  
Valerie Lindgren ◽  
Zohra Shad ◽  
...  
Keyword(s):  
Anterior Pituitary ◽  
Genetic Material ◽  
Ring Chromosome ◽  
Deletion Syndrome ◽  
First Year ◽  
Posterior Pituitary ◽  
Radiologic Findings ◽  
Midline Defects ◽  
First Year Of Life

We present the first reported case of an infant with 18p deletion syndrome with anterior pituitary aplasia secondary to a ring chromosome. Endocrine workup soon after birth was reassuring; however, repeat testing months later confirmed central hypopituitarism. While MRI reading initially indicated no midline defects, subsequent review of the images confirmed anterior pituitary aplasia with ectopic posterior pituitary. This case demonstrates how deletion of genetic material, even if resulting in a chromosomal ring, still results in a severe syndromic phenotype. Furthermore, it demonstrates the necessity of close follow-up in the first year of life for children with 18p deletion syndrome and emphasizes the need to verify radiology impressions if there is any doubt as to the radiologic findings.

Muenke syndrome: long-term outcome of a syndrome-specific treatment protocol

2019 ◽  
Vol 24 (4) ◽  
pp. 415-422 ◽  
Author(s):  
Bianca K. den Ottelander ◽  
Robbin de Goederen ◽  
Marie-Lise C. van Veelen ◽  
Stephanie D. C. van de Beeten ◽  
Maarten H. Lequin ◽  
...  
Keyword(s):  
Treatment Protocol ◽  
First Year ◽  
Ventricular Size ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Skull Growth ◽  
Muenke Syndrome ◽  
First Year Of Life

OBJECTIVEThe authors evaluated the long-term outcome of their treatment protocol for Muenke syndrome, which includes a single craniofacial procedure.METHODSThis was a prospective observational cohort study of Muenke syndrome patients who underwent surgery for craniosynostosis within the first year of life. Symptoms and determinants of intracranial hypertension were evaluated by longitudinal monitoring of the presence of papilledema (fundoscopy), obstructive sleep apnea (OSA; with polysomnography), cerebellar tonsillar herniation (MRI studies), ventricular size (MRI and CT studies), and skull growth (occipital frontal head circumference [OFC]). Other evaluated factors included hearing, speech, and ophthalmological outcomes.RESULTSThe study included 38 patients; 36 patients underwent fronto-supraorbital advancement. The median age at last follow-up was 13.2 years (range 1.3–24.4 years). Three patients had papilledema, which was related to ophthalmological disorders in 2 patients. Three patients had mild OSA. Three patients had a Chiari I malformation, and tonsillar descent < 5 mm was present in 6 patients. Tonsillar position was unrelated to papilledema, ventricular size, or restricted skull growth. Ten patients had ventriculomegaly, and the OFC growth curve deflected in 3 patients. Twenty-two patients had hearing loss. Refraction anomalies were diagnosed in 14/15 patients measured at ≥ 8 years of age.CONCLUSIONSPatients with Muenke syndrome treated with a single fronto-supraorbital advancement in their first year of life rarely develop signs of intracranial hypertension, in accordance with the very low prevalence of its causative factors (OSA, hydrocephalus, and restricted skull growth). This illustrates that there is no need for a routine second craniofacial procedure. Patient follow-up should focus on visual assessment and speech and hearing outcomes.

Abnormal Shoulder Girdle Muscle Tone in Premature Infants During Their First 18 Months of Life

PEDIATRICS ◽  
1986 ◽  
Vol 77 (5) ◽  
pp. 664-669
Author(s):  
Michael K. Georgieff ◽  
Judy C. Bernbaum
Keyword(s):  
Premature Infants ◽  
Motor Development ◽  
Muscle Tone ◽  
Birth Asphyxia ◽  
Shoulder Girdle ◽  
First Year ◽  
First Year Of Life ◽  
Girdle Muscle ◽  
Shoulder Girdle Muscle

To document the incidence of and neonatal factors associated with abnormal shoulder girdle muscle tone in premature infants at follow-up, we studied 125 consecutively admitted infants weighing &lt; 1,750 g treated in The Children's Hospital of Philadelphia intensive care nursery and subsequently seen in the Neonatal Follow-up Program up to 18 months of age. Fifty-seven infants (46%) displayed abnormal shoulder girdle muscle tone which presented clinically as scapular retractions. These infants had significantly lower birth weights (P &lt; .001) and gestational age (P &lt; .001) as well as a higher incidence of acute and chronic pulmonary disease (P &lt; 0.01) and CNS insults (P &lt; .05) when compared with infants without scapular retractions. The 57 infants with scapular retractions were further divided into two groups: 42 infants (74%) in whom scapular retractions were associated with generalized mild hypertonicity and 15 infants (26%) in whom scapular retractions compensated for trunk and neck hypotonicity. The infants with scapular retractions and hypotonicity had a significantly higher incidence of neonatal neurologic morbidity including seizures, major resuscitations, and birth asphyxia (P &lt; .01) when compared with the infants with scapular retractions and hypertonicity. Shoulder girdle tone abnormalities in the first year of life inhibit crawling, sitting, and object manipulation and, therefore, may manifest as delays in motor development. Identification of infants with significant neonatal risk factors for tone abnormalities is important to allow for earlier therapeutic intervention.

scholarly journals Safety of potential breast milk exposure to IFN-β or glatiramer acetate

2020 ◽  
Vol 7 (4) ◽  
pp. e757
Author(s):  
Andrea Ines Ciplea ◽  
Annette Langer-Gould ◽  
Anna Stahl ◽  
Sandra Thiel ◽  
Annette Queisser-Wahrendorf ◽  
...  
Keyword(s):  
Breast Milk ◽  
Glatiramer Acetate ◽  
Growth Curves ◽  
Antibiotic Use ◽  
Physical Growth ◽  
First Year ◽  
Motor Delay ◽  
Infant Outcomes ◽  
First Year Of Life

ObjectiveTo determine whether potential breast milk exposure to interferon-beta (IFN-β) or glatiramer acetate (GA) is safe for the infant.MethodsWe identified 74 infants born to 69 women with MS who breastfed under IFN-β (n = 39), GA (n = 34), or both (n = 1). Women had been enrolled into the German Multiple Sclerosis and Pregnancy Registry during pregnancy. Data were obtained from standardized, telephone-administered questionnaires completed by the mother during pregnancy and at 1, 3, 6, and 12 months postpartum and the infant's take-home medical record.ResultsThe median duration of exposed breastfeeding was 8.5 months (wide interquartile range: 4.9–12.7 months). Physical growth curves during the first year of life were consistent with national, sex-specific growth curves. Median body measurements were consistent with national medians. Most children (n = 71, 96%) had normal motor and language development. Gross motor delay was reported in 3 children, of whom 1 remained delayed at last follow-up (3.9 years old) and 2 were normal by 0.9 and 4.1 years old. The proportion of children hospitalized at least once (girls n = 2, 7%, and boys n = 6, 14%) and the proportion of children with at least one episode of systemic antibiotic use during the first year of life (girls n = 7, 23%, and boys n = 8, 18%) are consistent with national averages.ConclusionPotential breast milk exposure to IFN-β or GA did not increase the risk of common adverse infant outcomes in the first year of life. Taken together with the benefits of breastfeeding and low biological plausibility of risk, women with MS who wish to resume IFN-β or GA postpartum can be encouraged to breastfeed.

scholarly journals Outcomes of early repeat sweat testing in infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome (CRMS)/CF screen-positive, inconclusive diagnosis (CFSPID)

2021 ◽  
Author(s):  
vito terlizzi ◽  
Laura Claut ◽  
Carla Colombo ◽  
Antonella Tosco ◽  
Alice Castaldo ◽  
...  
Keyword(s):  
Metabolic Syndrome ◽  
Definitive Diagnosis ◽  
First Year ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Sweat Chloride ◽  
Sweat Testing ◽  
Cf Transmembrane Conductance Regulator ◽  
First Year Of Life

Background: Reaching early and definitive diagnosis in infants with cystic fibrosis (CF) transmembrane conductance regulator-related metabolic syndrome (CRMS)/CF screen-positive, inconclusive diagnosis (CFSPID) is a priority of all CF newborn screening programs. Currently, sweat testing is the gold standard for CF diagnosis or exclusion. We assessed outcomes in a cohort of Italian CRMS/CFSPID infants who underwent repeat sweat testing in the first year of life. Methods: This multicentre, prospective study analysed clinical data and outcomes in CRMS/CFSPID infants born between September 1, 2018 and December 31, 2019, and followed until June 30, 2020. All subjects underwent CF transmembrane conductance regulator (CFTR) gene sequencing and the search for CFTR macrodeletions/macroduplications, and repeat sweat testing in the first year of life. Results: Fifty subjects (median age at end of follow-up, 16 months [range, 7–21 months]) were enrolled. Forty-one (82%) had the first sweat chloride in the intermediate range. During follow up, 150 sweat tests were performed (range, 1–7/infant). After a median follow-up of 8.5 months (range 1–16.2 months), 11 (22%) subjects were definitively diagnosed as follows: CF (n=2 [4%]) at 2 and 5 months, respectively; healthy carrier (n=8 [16%]), at a median age of 4 months (range 2–8 months); and healthy (n=1 [2%]) at 2 months of age. Inconclusive diagnosis remained in 39 (78%) infants. Conclusions: Early repeat sweat testing in the first year of life can shorten the time to definitive diagnosis in screening positive subjects with initial sweat chloride levels in the intermediate range.

LONGITUDINAL EEG-CLINICAL CORRELATIONS IN CHILDREN FROM BIRTH TO 4 YEARS OF AGE

PEDIATRICS ◽  
1968 ◽  
Vol 41 (5) ◽  
pp. 945-954
Author(s):  
Fernando Torres ◽  
Michael E. Blaw
Keyword(s):  
Statistical Significance ◽  
Newborn Infants ◽  
Normal Subjects ◽  
First Year ◽  
Advanced Stages ◽  
The Difference ◽  
Focal Abnormality ◽  
First Year Of Life ◽  
Single Focus

One hundred-thirty children who had an EEG during their first days of life and who were registered in a clinical longitudinal study were followed with concurrent clinical and EEG examinations every 4 months for the first year of life and at 2, 3, and 4 years of age. Thirty children had EEG characteristics which are frequently considered abnormal in their neonatal record. Twenty-three children had clinical abnormalities during the 4-year period covered by the study. There was no significant correlation between a single EEG and clinical abnormalities at any age. Newborn infants with more than one focal abnormality in their EEG presented clinical abnormalities more frequently than those with a single focus. The difference, however, did not attain statistical significance. Children with an abnormal EEG at birth and an additional abnormal record later, had a higher incidence of clinical abnormalities than those with only an abnormal neonatal EEG. However, this finding is of questionable significance because the children who had clinical abnormalities had a larger number of EEG's than the normal subjects. It is expected that continued follow-up of these children at more advanced stages of their development may give a positive EEG-clinical correlation which was not found in this study.

Effectiveness of Frenotomy in Ankyloglossia Treatment Between 0-1 Years Old

2021 ◽  
Author(s):  
Fatih Akova
Keyword(s):  
First Year ◽  
Bleeding Control ◽  
Old Patients ◽  
Feeding Function ◽  
Group 2 ◽  
Hospital Pediatric ◽  
First Year Of Life ◽  
Results Of Surgery ◽  
Group 1

Objective: The aim of this study is to present the frenotomy technique in cases of ankyloglossia (tongue-tie), which is diagnosed and treated in the first year of life. Patients were operated by a single surgeon. Method: Cases of ankyloglossia operated at Biruni University Faculty of Medicine Hospital Pediatric Surgery Clinic Between 2016-2020 were evaluated retrospectively in terms of clinical complaints, age, type of ankyloglossia, surgical technique, indications and results of surgery. Results: Frenotomy was performed in 56 patients including 47 boys (84%) and 9 girls (16%), between the ages of 0-1. Average age of the patients was 93 days (1-360). Patients were divided into two groups as Group 1 (n: 40: 0-90 days old) and Group 2 (n: 16: 90-360 days old). Patients were admitted with complaints of having difficulty in sucking the mother’s breast, not being able to take their tongue out, feeding with a bottle, pain at the nipple and not being able to grasp the breast. No additional intervention was required for bleeding in Group 1, and in 12 (75%) patients in Group 2 bleeding control was achieved using bipolar cautery. During follow-up, significant improvement was obtained in all patients who had difficulty in sucking and gripping the nipple. Improvement was observed in 15 of 25 patients with nipple pain. Conclusion: Frenotomy is an easily applied surgical procedure with minimal complications. Additional application may be required for bleeding control in infants older than 3 months. It should be considered that the probability of recurrence may depend on the type, intervention used and thickness of the frenulum, and phrenotomy may not be sufficient. The improvement in breast feeding function of Frenotomy may provide a significant improvement in the complaints of nipple pain, and may contribute to the emotional attachment between the mother and her baby. Randomized controlled trials are required to determine the effects of phrenotomy.

Adaptive capabilities of newborns depending on the conditions of intrauterine development

1982 ◽  
Vol 63 (4) ◽  
pp. 5-7
Author(s):  
E. A. Efimova ◽  
S. L. Nesterov ◽  
N. L. Yashina ◽  
T. K. Shakurova ◽  
V. A. Novikova ◽  
...  
Keyword(s):  
Blood Cells ◽  
Neonatal Period ◽  
Preventive Therapy ◽  
First Year ◽  
Children At Risk ◽  
Intrauterine Development ◽  
Adaptive Capabilities ◽  
First Year Of Life ◽  
Adaptive Reactions

Clinical, cytochemical, and rheological features of the neonatal period were studied in 460 children from mothers suffering from rheumatism or having suffered late toxicosis of pregnant women. On the basis of impaired adaptive reactions, changes in the enzymatic spectrum of blood cells and disorders of microcirculatory mechanisms, children at risk were identified. 50 of them underwent preventive therapy in the neonatal period. The follow-up indicates a lower infectious index during the first year of life in children who received preventive therapy.

COMPLICATIONS OF SMALLPOX VACCINATION UNITED STATES 1963

PEDIATRICS ◽  
1967 ◽  
Vol 39 (6) ◽  
pp. 916-923
Author(s):  
John M. Neff ◽  
Ronald H. Levine ◽  
J. Michael Lane ◽  
Ernest A. Ager ◽  
Helen Moore ◽  
...  
Keyword(s):  
United States ◽  
High Frequency ◽  
Primary Vaccination ◽  
The United States ◽  
Smallpox Vaccination ◽  
First Year ◽  
Common Complication ◽  
More Care ◽  
First Year Of Life

Four thousand nine hundred physicians in four states, representing 4.8% of the population of the United States, were surveyed in order to assess the frequency and types of complications that occurred during 1963 in association with smallpox vaccination. Four hundred ninety-one physicians initially reported observing 810 complications during this year. On follow-up of these cases, many were not actually complications or were complications that occurred in a year other than 1963. Accidental infection was the most common complication. Generalized vaccinia and eczema vaccinatum occurred at a frequency of 238 and 80, respectively, per million primary vaccinations. Severe complications were infrequent. No deaths and only one case each of post-vaccinal encephalitis and vaccinia necrosum were detected. The high frequency of many preventable complications and the disproportionate frequency of complications in infants suggest that morbidity and mortality now associated with smallpox vaccination could be significantly reduced if primary vaccination could be deferred until after the first year of life and if more care were taken to detect individuals in whom complications can be expected to occur.

Psychomotor Development of the Danzig Quintuplets in Their First Year of Life. A Psychological Evaluation

1972 ◽  
Vol 22 (S1) ◽  
pp. 186-188
Author(s):  
M. Bogdanowicz
Keyword(s):  
Physical Appearance ◽  
Psychological Evaluation ◽  
Body Posture ◽  
Psychomotor Development ◽  
First Year ◽  
Intelligence Scale ◽  
Rate Of Development ◽  
Personality Features ◽  
First Year Of Life

A psychological follow-up, based on the Brunet-Lézine Scale, showed a constant progress in the development of the quintuplets, the pace being quite proper from the 5th month on.The children differed from each other: the best pace of psychomotor development was observed in Adam and Ewa, the worst in Piotr.In all children, control of body posture showed the highest rate of development, exceeding the presumed norms. Some delay was observed in speech. The results of the examinations made by the Psyche-Cattell Intelligence Scale agree with those obtained by the Brunet-Lézine Scale.Besides the differences in physical appearance, the children showed differences in personality features.

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