Bullous Mastocytosis in a Filipino Infant: A Case Study

Introduction. Mastocytosis is a disease defined by the proliferation of mast cells in organs, most commonly the skin. It may affect any age group but is usually found in children in the first year of life. We present a case of diffuse cutaneous mastocytosis manifesting in the rare bullous form. Case. A 4-month-old Filipino male presented with multiple bullae on the head, trunk, and extremities after applying chamomile oil. Biopsy of the skin demonstrated numerous mast cells, confirming the diagnosis of bullous mastocytosis. The patient was treated with oral antihistamines and corticosteroids, which was followed by a good response. Conclusion. Diagnosis of diffuse cutaneous mastocytosis may be challenging due to its rarity. Proper management requires preventive measures, symptomatic treatment, as well as communication of prognosis with the stakeholders.

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Complex Congenital Heart Defect, Heterotaxy, Imperforate Anus, and Other Congenital Anomalies in a 27-Week Infant: A Case Study

Neonatal Network The Journal of Neonatal Nursing ◽

10.1891/0730-0832.33.4.199 ◽

2014 ◽

Vol 33 (4) ◽

pp. 199-203 ◽

Cited By ~ 1

Author(s):

Angela Koerner

Keyword(s):

Congenital Anomalies ◽

Intraventricular Hemorrhage ◽

Congenital Heart ◽

Surgical Intervention ◽

First Year ◽

Risk Of Infection ◽

Cardiac Defects ◽

Live Births ◽

First Year Of Life

According to multiple researchers and studies, congenital heart disease (CHD) occurs in approximately 4.8–12.0 of 1,000 live births in the general population, and 2.4 per 1,000 cases are serious enough to require surgery or cardiac catheterization in the first year of life.1 Historically, it has been assumed that the earlier the gestational age with CHD, the poorer the outcome; however, with continued improvements in neonatal care, this hypothesis should be looked at more closely. This case illustrates the challenges associated with prematurity, complex cardiac defects, intraventricular hemorrhage (IVH), and other congenital anomalies that increase the risk of infection and/or surgical intervention. It will discuss the hospital course of a twin, born at 27 weeks gestation, who was found to have all of these diagnoses, yet, despite the complexity of his case, he had a predominantly uncomplicated hospital course.

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Case Report: Recurrent Left Posterior Fascicular Ventricular Tachycardia in a Newborn

Frontiers in Pediatrics ◽

10.3389/fped.2021.691146 ◽

2021 ◽

Vol 9 ◽

Author(s):

Lu Zhao ◽

Lin Wu ◽

Qu-ming Zhao ◽

Xue-cun Liang

Keyword(s):

Differential Diagnosis ◽

Ventricular Tachycardia ◽

Case Report ◽

First Year ◽

Age Group ◽

Basic Principles ◽

Left Posterior ◽

Proper Diagnosis ◽

First Year Of Life

Left posterior fascicular ventricular tachycardia (LPFVT) is extremely rare in neonates. We described a 17-day-old girl with LPFVT who was initially misdiagnosed as supraventricular tachycardia (SVT). Eventually, she was successfully treated by amiodarone infusion followed by oral amiodarone with propranolol for 9 months, and LPFVT spontaneously resolved after a 1-year follow-up. This case report illustrated the basic principles and caveats in differential diagnosis of LPFVT in the neonatal age group. With proper diagnosis and therapy, neonatal LPFVT might regress in the first year of life.

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Causes of violation of vaccination schedule in young children

Pediatrician (St Petersburg) ◽

10.17816/ped10331-36 ◽

2019 ◽

Vol 10 (3) ◽

pp. 31-36

Author(s):

Tatyana M. Chernova ◽

Vladimir N. Timchenko ◽

Nadezhda A. Myskina ◽

Maria A. Lapina ◽

Anna E. Orekhova ◽

...

Keyword(s):

Young Children ◽

Infectious Diseases ◽

High Frequency ◽

Maternity Hospital ◽

Vaccination Schedule ◽

First Year ◽

Age Group ◽

Immunization Schedule ◽

Significant Delay ◽

First Year Of Life

The high frequency of severe and complicated forms of infectious diseases in young children, with the possibility of death, confirms the importance of timely specific protection of this age group. In order to identify the causes of violation of the terms of vaccination of young children, 469 histories of children from 0 to 12 months of life were studied. The analysis showed that only 77% of the observed children in the first year of life were vaccinated according to the immunization schedule, whereas in 23% of cases, violations of the vaccination status were found. In 45% of children, the time of immunization was violated already at the stage of the maternity hospital: only every fifth child was not vaccinated because of health reasons, while 79% of children did not receive prophylactic vaccinations due to the mother’s refusal. Medical abductions prevailed in the structure of violations of vaccination terms in the сhildren’s оutpatient: 39% of children were vaccinated with deviations from the schedule due to temporary contraindications, 22% were vaccinated later than terms due to unreasonable medical leads. In 39% of cases of violation of vaccine status is associated with a misunderstanding of the parents of the risk of infectious diseases and the effectiveness of the child’s protection through immunization. Of these, 22% of children were denied, 10% of children were vaccinated with a significant delay, 7% of children did not reach the сhildren’s оutpatient during the year without an explanation of the reasons. Thus, the analysis showed that the majority of the observed children (57%) did not receive timely protection against infectious diseases due to attitudes towards vaccinations of parents, 43% of children were not vaccinated due to medical abductions.

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Atypical Presentation of Infantile Hepatic Hemangioma: A Case Study

Neonatal Network The Journal of Neonatal Nursing ◽

10.1891/0730-0832.36.6.374 ◽

2017 ◽

Vol 36 (6) ◽

pp. 374-379

Author(s):

Ashley Sartori ◽

Gayle Leary Omansky ◽

Steven Ringer

Keyword(s):

Heart Failure ◽

Congestive Heart Failure ◽

Multidisciplinary Team ◽

First Year ◽

Hepatic Hemangioma ◽

Atypical Presentation ◽

Team Care ◽

First Year Of Life ◽

High Output

AbstractInfantile hepatic hemangioma (IHH) is the most common benign hepatic tumor of infancy. It is characterized by rapid proliferation in the first year of life, followed by slow involution during childhood. Presentation can range from asymptomatic to severe, high-output congestive heart failure (CHF). The purpose of this article is to review the case of an infant with an atypical presentation of IHH. It also addresses pathophysiology, diagnosis, management, and multidisciplinary team care.

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Pitch related contrasts in child directed language: A case study during the first year of life

Infant Behavior and Development ◽

10.1016/s0163-6383(96)90751-1 ◽

1996 ◽

Vol 19 ◽

pp. 697

Author(s):

Nadja Reissland

Keyword(s):

First Year ◽

First Year Of Life

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Tracheotomy in the Preschool Population: Indications and Outcomes

Otolaryngology ◽

10.1016/j.otohns.2007.02.021 ◽

2007 ◽

Vol 137 (2) ◽

pp. 280-283 ◽

Cited By ~ 11

Author(s):

Lesley C. French ◽

Christopher T. Wootten ◽

Robert G. Thomas ◽

Wallace W. Neblett ◽

Jay A. Werkhaven ◽

...

Keyword(s):

Airway Obstruction ◽

Tertiary Care Hospital ◽

Tertiary Care ◽

Upper Airway ◽

Upper Airway Obstruction ◽

Direct Result ◽

First Year ◽

Care Hospital ◽

Age Group ◽

First Year Of Life

OBJECTIVE: Although more tracheotomy procedures are performed within the first year of life than in any other age group, preschool-aged children requiring tracheotomy remain understudied. We characterize the indications and outcomes for patients between the ages of 3 and 6 years undergoing tracheotomy. METHODS: Out of 480 pediatric tracheotomy procedures performed at a tertiary-care hospital between 1988 and 2004, 15 patients underwent primary tracheotomy between 3 and 6 years of age. RESULTS: Most (60%) procedures were performed for pulmonary toilet. Upper-airway obstruction represented the second most common indication (40%), and trauma necessitated tracheotomy procedures more often than had been predicted (40%). The decannulation rate was 40%; 2 patients died. CONCLUSION: Trauma contributed to both upper-airway obstruction as well as requirements for pulmonary toilet. These procedures performed secondary to trauma will likely continue to increase. SIGNIFICANCE: Tracheotomy procedures in the preschool population remain uncommon; however, nearly half of those studied were performed as a direct result of otherwise preventable trauma.

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Absence of Neisseria meningitidis Serogroup C-Specific Antibodies during the First Year of Life in The Netherlands: an Age Group at Risk?

Clinical and Vaccine Immunology ◽

10.1128/cvi.00274-09 ◽

2009 ◽

Vol 16 (10) ◽

pp. 1521-1523 ◽

Cited By ~ 1

Author(s):

Richarda M. de Voer ◽

Fiona R. M. van der Klis ◽

Laetitia E. M. Niers ◽

Ger T. Rijkers ◽

Guy A. M. Berbers

Keyword(s):

At Risk ◽

The Netherlands ◽

Neisseria Meningitidis ◽

Rapid Decline ◽

First Year ◽

Age Group ◽

Specific Antibodies ◽

Functional Antibodies ◽

First Year Of Life

ABSTRACT In The Netherlands, a single meningococcal serogroup C conjugate (MenCC) vaccination is administered to children at the age of 14 months. Here, we report the levels of MenC polysaccharide-specific antibodies in children at birth and at 3, 11, and 12 months of age and the presence of functional antibodies at 11 months of age, before infants receive their MenCC immunization. We observed a rapid decline in polysaccharide-specific antibodies after birth and no induction of naturally elicited polysaccharide-specific antibodies. Furthermore, at 11 months of age, no bactericidal antibodies are observed. These data indicate that these infants may be at risk in the period prior to MenCC immunization, if Neisseria meningitidis serogroup C starts to (re)circulate.

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Study of Appearances of Ossification Centers in the Carpal Bones in 3 – 14 Years Age Group in a Teaching Hospital in Telangana

Journal of Evidence Based Medicine and Healthcare ◽

10.18410/jebmh/2020/576 ◽

2020 ◽

Vol 7 (48) ◽

pp. 2811-2814

Author(s):

Uday Kiran B ◽

Divya Pothati

Keyword(s):

Prospective Observational Study ◽

Skeletal Maturity ◽

Carpal Bones ◽

First Year ◽

X Rays ◽

Age Group ◽

Medical College ◽

One Year ◽

Ossification Centers ◽

First Year Of Life

BACKGROUND Study of ossification of carpal bones in children indicates the level of structural maturity and age estimation. For the assessment of skeletal maturity in children, radiologists often use hand and wrist radiograph because of low level of radiation. Carpals are the most commonly used bones for determining the age of a child. We wanted to study the appearance of ossification centers in the carpal bones in age group of 3 - 14 years. METHODS This is a prospective observational study of one-year duration conducted between January 2019 and December 2020 in the Department of Forensic Medicine and Toxicology at Maheshwara Medical College and Hospital, Patancheru, Telangana. Children 3 to 14 years of age from nearby schools were randomly selected, and X-rays of the carpal bones were taken. Appearance of carpal bones and ossification were studied to estimate the age. RESULTS The study included 70 school children. We found that capitate and hamate carpals ossified during the first year of life in children of both sexes. Triquetral and lunate appeared at 3 - 4 years, trapezium, trapezoid and scaphoid carpals appeared between 5 and 8 years. Pisiform appeared at 9 years of age in females and at 13 years in males. CONCLUSIONS Capitate and hamate ossify at an early age. Triquetral and lunate carpals appear after capitate and hamate. Their appearance is slightly earlier in females than in males. KEYWORDS Ossification, Carpal Bones, Capitate, Hamate

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Genetic diversity and mate selection in a reintroduced population of gray wolves

Scientific Reports ◽

10.1038/s41598-021-04449-4 ◽

2022 ◽

Vol 12 (1) ◽

Author(s):

David E. Ausband

Keyword(s):

Genetic Diversity ◽

Mate Selection ◽

Genetic Relatedness ◽

First Year ◽

Average Heterozygosity ◽

Gray Wolves ◽

Pup Survival ◽

Wildlife Populations ◽

First Year Of Life

AbstractThe genetic composition of an individual can markedly affect its survival, reproduction, and ultimately fitness. As some wildlife populations become smaller, conserving genetic diversity will be a conservation challenge. Many imperiled species are already supported through population augmentation efforts and we often do not know if or how genetic diversity is maintained in translocated species. As a case study for understanding the maintenance of genetic diversity in augmented populations, I wanted to know if genetic diversity (i.e., observed heterozygosity) remained high in a population of gray wolves in the Rocky Mountains of the U.S. > 20 years after reintroduction. Additionally, I wanted to know if a potential mechanism for such diversity was individuals with below average genetic diversity choosing mates with above average diversity. I also asked whether there was a preference for mating with unrelated individuals. Finally, I hypothesized that mated pairs with above average heterozygosity would have increased survival of young. Ultimately, I found that females with below average heterozygosity did not choose mates with above average heterozygosity and wolves chose mates randomly with respect to genetic relatedness. Pup survival was not higher for mated pairs with above average heterozygosity in my models. The dominant variables predicting pup survival were harvest rate during their first year of life and years pairs were mated. Ultimately, genetic diversity was relatively unchanged > 20 years after reintroduction. The mechanism for maintaining such diversity does not appear related to individuals preferentially choosing more genetically diverse mates. Inbreeding avoidance, however, appears to be at least one mechanism maintaining genetic diversity in this population.

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Early and lethal neurodegeneration with myasthenic and myopathic features

Neurology ◽

10.1212/wnl.0000000000004234 ◽

2017 ◽

Vol 89 (7) ◽

pp. 657-664 ◽

Cited By ~ 7

Author(s):

David C. Schorling ◽

Simone Rost ◽

Dirk J. Lefeber ◽

Lauren Brady ◽

Clemens R. Müller ◽

...

Keyword(s):

Refractory Epilepsy ◽

Clinical Phenotype ◽

Cerebral Atrophy ◽

First Year ◽

Genetic Syndrome ◽

Electrophysiologic Testing ◽

Whole Exome ◽

Heterozygous Carriers ◽

First Year Of Life

Objective:To describe the presentation and identify the cause of a new clinical phenotype, characterized by early severe neurodegeneration with myopathic and myasthenic features.Methods:This case study of 5 patients from 3 families includes clinical phenotype, serial MRI, electrophysiologic testing, muscle biopsy, and full autopsy. Genetic workup included whole exome sequencing and segregation analysis of the likely causal mutation.Results:All 5 patients showed severe muscular hypotonia, progressive cerebral atrophy, and therapy-refractory epilepsy. Three patients had congenital contractures. All patients died during their first year of life. In 2 of our patients, electrophysiologic testing showed abnormal decrement, but treatment with pyridostigmine led only to temporary improvement. Causative mutations in ALG14 were identified in all patients. The mutation c.220 G>A (p.Asp74Asn) was homozygous in 2 patients and heterozygous in the other 3 patients. Additional heterozygous mutations were c.422T>G (p.Val141Gly) and c.326G>A (p.Arg109Gln). In all cases, parents were found to be heterozygous carriers. None of the identified variants has been described previously.Conclusions:We report a genetic syndrome combining myasthenic features and severe neurodegeneration with therapy-refractory epilepsy. The underlying cause is a glycosylation defect due to mutations in ALG14. These cases broaden the phenotypic spectrum associated with ALG14 congenital disorders of glycosylation as previously only isolated myasthenia has been described.

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