NASCER E CRESCER - BIRTH AND GROWTH MEDICAL JOURNAL

Disease modelling and drug development with iPSC-derived cells: a brave new world?

2020-03-25T14:55:50+00:00

Behavioral insomnia in a pediatric sleep clinic: retrospective study

2020-03-25T14:55:48+00:00

Background/Objective: Behavioral insomnia is a common sleep disorder among children, with potentially negative impact on health, behavior, and cognition. This study aimed to characterize a pediatric population referred to a Sleep Disorder Clinic of a tertiary hospital due to behavioral insomnia.
Methods: Retrospective and descriptive study based on the review of medical records of patients with insomnia over an eight-year period (2008−2016). Results are presented as median (minimum-maximum), mean (standard deviation), and percentage.
Results: A total of 964 children attended the Sleep Disorder Clinic in the considered time period, 162 (16.8%) of which due to insomnia and 137 (14.2%) to behavioral insomnia. Most children (58.4%) were male and the median age at referral was 45 months (5 months–18 years). The median bedtime was 10 pm (8 pm−4 am) and nocturnal awakenings were frequent, particularly in pre-school aged children. Regarding bedtime routines, 62% of children were not able to fall asleep alone, 48.9% had television in the bedroom, 43.1% (11.9% of which, teenagers) required an object to fall asleep, and 42.3% required lights on. Most patients (62%) had a routine to fall asleep, which was dependent on the caregiver in younger children and on television and reading in teenagers. The most frequent daytime symptoms were sleepiness in older children and irritability in younger children. Regarding treatment, 29.9% were taking drugs before referral.
Conclusions: Most children in this study were preschoolers, an important age window. Later sleep time, TV in the bedroom, and parental dependence to fall asleep were frequent, revealing a broad area for intervention. The authors propose greater investment in training health professionals and caregivers working in the area, in order to promote the adoption of adequate sleep hygiene as a form of prevention.

What role for the pacifier in acute otitis media risk?

2020-03-25T14:55:46+00:00

Introduction: Sucking reflex is acknowledged as a comforting mechanism for infants. When used for short periods of time, it is considered a healthy habit. Acute otitis media is one of the most frequent infections in pediatric age and has been associated with pacifier misuse.
Objectives: To review available evidence regarding the association between pacifier use in the first years of life and otitis media risk. Methods: A literature search was conducted on several databases using MeSH terms “otitis” and “pacifiers” for guidelines, systematic reviews, randomized controlled trials, and observational studies over the last 20 years. SORT scale of the American Family Physician was used to evaluate evidence levels.
Results: A total of 56 articles were retrieved, of which four guidelines, one systematic review, and one original article were selected. According to guidelines, there is no reason to discourage pacifier use, as it can be particularly beneficial in the first six months of life. Afterwards, pacifier use should be limited to moments of falling asleep. Its use should also be avoided in infants with chronic or recurrent otitis media. The systematic review stablished pacifier use as a risk factor for recurrent acute otitis media (RAOM) which is susceptible to intervention. In the observational study, a statistically significant association was found between pacifier use and RAOM risk.
Conclusions: Pacifier use should not be actively discouraged in the first semester of life, as it can have beneficial effects for children (SORT A). Afterwards, its use should be discontinued due to increased otitis risk (SORT A).

Psychotic symptoms during stimulant treatment for attention-deficit/hyperactivity disorder

2020-03-25T14:55:44+00:00

Introduction: Attention-deficit/hyperactivity disorder (ADHD) is a common neurodevelopmental disorder. Pharmacological treatment, either alone or in combination with psychosocial interventions, is important in the therapeutic strategy. Psychostimulants remain the most effective medication and are generally well tolerated. However, one of its rare but significant side effects is development of psychotic symptoms.
Objectives: To perform a literature review about the risk of psychotic symptoms during ADHD treatment with stimulants and discuss possible pharmacological treatment implications.
Methods: A literature search was conducted on PubMed database using the terms “ADHD”, “central nervous system stimulants”, and “psychosis”. The search was supplemented with data retrieved from published guidelines.
Results and discussion: ADHD diagnosis has been increasing, as well the use of stimulants for its treatment. However, using these drugs is not without controversy. ADHD pharmacological treatment is rarely associated with psychotic symptoms. Reported symptoms include hallucinations and paranoid delusions, and occasionally also euphoria, grandiosity, and other mania and hypomania features. These symptoms are generally short-lived and self-limited within days after stimulant discontinuation. One study comparing amphetamines and methylphenidate suggested that the former was more likely to cause psychosis compared with the latter. Additionally, study authors agreed that stimulant-induced psychosis seems to be associated to susceptibility factors.
Conclusion: Psychostimulants are highly beneficial for ADHD patients. However, small studies and case reports suggest an association with new-onset psychotic symptoms. Physicians should be aware that psychotic symptoms may arise during stimulant ADHD treatment. Further investigation is required to identify patients who are most at risk of experiencing such adverse events.

Immune neonatal thrombocytopenia - review

2020-03-25T14:55:41+00:00

Introduction: Thrombocytopenia is the most frequent hematological change in the neonatal period, with immune thrombocytopenia as the main cause of moderate-to-severe thrombocytopenia in apparently healthy newborns. Immune thrombocytopenia in the fetus or newborn may result from platelet alloantibodies against paternal antigens inherited by the fetus (alloimmune thrombocytopenia) or platelet autoantibodies due to maternal autoimmune disease (autoimmune thrombocytopenia).
Objetives: To review published literature about immune thrombocytopenia in newborns, including the latest advances in pathogenesis, diagnosis, treatment, and prevention.
Results: Neonatal alloimmune thrombocytopenia is the most common cause of severe thrombocytopenia and intracranial hemorrhage in term neonates. Clinical presentation varies from mild thrombocytopenia to life-threatening bleeding and death. As maternal screening is not routinely performed, most cases are diagnosed in the first child. Despite intensive research, a consensus strategy for prevention and treatment of the condition is lacking. Diagnosis of neonatal autoimmune thrombocytopenia is usually apparent from maternal medical history and thrombocytopenia. Although maternal immune thrombocytopenic purpura does not carry a high risk of perinatal hemorrhage, it may lead to thrombocytopenia in the newborn, mostly mild-to-moderate. Clinical presentation varies from no symptoms to mucocutaneous signs of thrombocytopenia and may persist for weeks to months requiring long-term monitoring.
Conclusions: Fetal and Neonatal alloimmune thrombocytopenia can cause severe disease in the affected fetus or newborn. Facing the lack of routine antenatal screening, the strategies currently proposed for pregnancies at risk. We also discussed the latest research and therapies in development, aiming at potential improvements in diagnosis, treatment, and prevention of this disease. Neonatal autoimmune thrombocytopenia may cause long-lasting low platelet count, that need regular checking.

Bilateral congenital semicircular canal malformation and hearing loss - case report

2020-03-25T14:55:39+00:00

The main aims of this observational study were to describe a poorly characterized malformation of the inner ear termed bilateral congenital semicircular canal malformation; determine if the degree and pattern of semicircular canal dysmorphology and the presence or absence of a well-formed cochlea predict audiological outcomes, type, and severity of congenital hearing loss; and investigate its relationship with known syndromic forms of hearing loss. Review of eight cases of hearing loss with radiographic evidence of congenital semicircular canal malformation was performed. Information was collected on clinical history, physical examination, computed tomography study and serial audiograms for all patients. Analyzed features included other syndrome-characteristic phenotypic dysmorphologies, audiometric configuration, severity and type of hearing loss, type of audiological rehabilitation, and presence of associated inner ear abnormalities besides those in the vestibular system.
Among the eight cases included in the study, six patients had recognized syndromes/chromosomal abnormalities. Hearing loss was moderate to profound in all cases. All patients had bilateral semicircular canal deformities, with usually identical anatomical pattern on each side. Of the eight cases, six had normal cochlear development; malformations in the tympanic membrane and external auditory canal were only found in one; changes in ossicular chain were found in three patients; vestibules and vestibular aqueduct were normal in most cases; and abnormalities of oval window development and hypoplasia were found in two cases.
The present study shows that a correlation between the severity and type of hearing loss and radiographic abnormalities is difficult to establish. Hearing loss associated with semicircular canal dysplasia is more likely due to anomalous membranous labyrinth development, which is not radiologically detectable by computerized tomography scan.

Insulin-induced edema in a pediatric patient - clinical case

2020-04-08T12:32:31+01:00

Introduction: Insulin edema is a rare condition associated with improved glycemic control shortly after diabetes diagnosis or following a period of insulin omission. Clinical findings range from mild edema to severe heart failure and pleural effusion. Diagnosis is clinical and other edema causes should be excluded. Since it is a self-limited condition, there is no need to modify insulin regimen. In more severe cases, diuretic therapy may be required.
Clinical case: A 14-year-old female was brought to the Emergency Department due to weight gain and leg swelling with three days of evolution. She had been diagnosed with type 1 diabetes at the age of nine. The girl had poor metabolic control which led to multiple hospitalizations, the last one occurring the week before with a glycated hemoglobin higher than 15%. In physical examination, lower limb edema and a 7-kg weight gain were noted. No jugular vein distension, hepatomegaly, or other forms of edema were found. The girl was hemodynamically stable, with diuresis within the normal range. Analytical study consisting of hemogram, ionogram (sodium and potassium), and renal and hepatic function was normal. Urine analysis revealed glycosuria and chest x-ray showed no abnormalities. The diagnosis of insulin-induced edema was established and water and saline restriction recommended, with total symptom resolution three weeks later.
Conclusion: Despite rare, clinicians should be aware of this condition, as most cases do not require modifying the insulin regimen.

Treatment interruption in small for age term-born children

2020-03-25T14:55:36+00:00

Small-for-gestational-age children have been associated with up to 20% delayed growth and delayed development, increased childhood morbimortality, and poor quality of life. Prepubertal growth hormone administration results in increased growth and musculoskeletal development. The present case report illustrates the negative impact of growth hormone disruption in a 6-year-old patient, resulting in impaired growth and development. Close clinical and laboratory monitoring is recommended for small-for-gestational-age children receiving growth hormone treatment, and family counselling should be encouraged.

Ultrasound relevance in prental diagnosis of VACTERL association - two clinical cases

2020-03-25T14:55:33+00:00

VATER is a nonrandom association of congenital defects with common developmental pathogenesis including/which includes malformations like vertebral defects, anal atresia or imperforate anus, tracheoesophageal fistula with esophageal atresia, and radial or renal dysplasia. VATER acronym was initially used to describe this association, but other malformations, like cardiac defects and limb anomalies, were later also considered cardinal features and included, changing the acronym to VACTERL.
Although few cases have been reported, VATER/VACTERL spectrum association can be detected in first-trimester ultrasound.
Herein, the authors describe two cases of VATER/VACTERL association suspected during the 12-week ultrasound and confirmed in anatomopathological study. Prenatal VACTERL association diagnosis is challenging and rarely detected in the first pregnancy trimester. It requires skill and experience to interpret ultrasound findings and some features are difficult to recognize before birth. Early diagnosis is important for parental counselling and delivery planning. Management options include medical pregnancy termination and delivery in a tertiary center to improve outcomes.

Pediatric bacillary pulmonary tuberculosis - case report

2020-03-25T14:55:32+00:00

Children are more susceptible than adults to development of tuberculosis after exposure to active disease, hence screening and chemoprophylaxis are particularly important. Although Portugal is considered to have a low burden of tuberculosis, educating the population on the importance of screening and treatment is vital to decrease the number of cases. Herein is reported the case of an 11-year-old girl with previous contact with active tuberculosis who was lost to follow-up and later diagnosed with bacillary pulmonary tuberculosis.

Dermatology clinical case

2020-03-25T14:55:29+00:00

A previously healthy 15-year-old girl was sent to the Pediatric Emergency Department by the general practitioner due to suspicion of a hematological condition. The girl presented with ecchymotic lesions on the anterior region of the thorax and antero-proximal region of the upper limbs, which had apparently worsened in the last 24 hours. She denied trauma or impact sports, fever or recent infections, and blood loss or other symptoms. Laboratory evaluation showed no alterations and urine toxicology screening was negative. When confronted with normal laboratory evaluation, the girl confessed intentional self-inflicted injuries following a discussion with her mother. Parents were made aware of the situation, and a pediatric psychiatry consultation was recommended. After discharge, follow-up in the girl’s home country was assured.
With this report, the author intend to raise awareness of the importance of maintaining a high index of suspicion to non-suicidal self-injury, identifying alarm signs and establishing early preventive strategies.

Imaging clinical case

2020-03-25T14:55:19+00:00

Here in is reported the case of a 16-year-old female diagnosed with vitreous haemorrhage and hemangioblastoma of the retina, referred to the Emergency Department due to sudden vision loss. Brain and pelvic magnetic resonance imaging showed cerebellar hemangioblastomas and renal nodular lesions of suspicious nature. The patient was submitted to partial left nephrectomy and histological examination revealed papillary renal cell carcinoma with clear-cell predominance. Clinical diagnosis of Von Hippel-Lindau (VHL) disease was confirmed by genetic study.
VHL disease is a hereditary, autosomal dominant syndrome of multiple neoplasms caused by germline mutations in VHL tumor-suppressor gene. Patients are predisposed to development of cysts and hypervascular neoplasms, the most common being hemangioblastomas of the central nervous system (CNS) and retina, cysts and renal cell carcinomas, and pheochromocytomas. VHL diagnosis should be suspected if an individual with family history of VHL presents with a characteristic disease lesion or, in absence of family history of VHL, with two CNS and/or retinal hemangioblastomas or a CNS/retinal hemangioblastoma associated with renal cell carcinoma, pheochromocytoma, pancreatic cysts or endocrine tumor, or epididymal cystadenoma. In VHL disease, imaging plays a key role in detection of abnormalities, follow-up, and screening of asymptomatic mutated gene carriers.