-
Journal of the Canadian Academy of... Aug 2023Appropriate interventions for psychiatric conditions that commonly emerge during adolescence and early adulthood play a crucial role in modifying both acute risks as...
Appropriate interventions for psychiatric conditions that commonly emerge during adolescence and early adulthood play a crucial role in modifying both acute risks as well as long-term outcomes. Substance use disorder is a common comorbidity during the early stages of mood and psychotic disorders that further heightens acute risks and is considered a negative prognostic factor. New presentations of mood and psychotic symptoms with co-occurring substance use are inherently challenging to formulate due to the uncertainty surrounding the relative impact of multiple intrinsic and extrinsic factors. Given such uncertainty, it is natural for clinicians to rely on heuristics to guide assessment and management. These heuristics however may bring about premature diagnostic closure by favouring the primacy of substance use, which in turn can result in a missed window of opportunity for a timely and appropriate intervention. We caution clinicians against over-attributing early symptoms of mood and psychotic disorders to substances use alone.
PubMed: 37534116
DOI: No ID Found -
Children (Basel, Switzerland) Jul 2023Omitting the early closure of the cranial sutures in newly born children is not an uncommon practice. We describe the natural history of several unrelated children and...
BACKGROUND
Omitting the early closure of the cranial sutures in newly born children is not an uncommon practice. We describe the natural history of several unrelated children and adults from two unrelated families. These children were born with variable clinical manifestations: craniofacial asymmetry, ocular proptosis, floppiness, and progressive deceleration in cognitive development. None of these children underwent a cranial sutures assessment. False diagnoses of positional plagiocephaly, neonatal thyrotoxicosis, congenital muscular atrophy, and hydrocephalus were given to the parents. This sort of malpractice was the reason behind a sequence of devastating pathological events that occurred in the lifetime of these children and adults.
MATERIAL AND METHODS
This was a multigenerational study of two unrelated families. In total, we studied three children (aged 7-19 years) and three adults (aged 40-52 years) from two families. The children from the first family were referred to our departments because of pre-pubertal scoliosis, kyphoscoliosis, and early-onset osteoarthritis. Reading the clinical histories of these children signified apparent clinical misconceptions. For instance, craniofacial asymmetry was misinterpreted as positional plagiocephaly and treated by means of helmet molding therapy. Ocular proptosis was given the false diagnosis of neonatal thyrotoxicosis. Floppiness (hypotonia) was misdiagnosed as congenital muscular dystrophy. The index case from the second family showed progressive deceleration in his cognitive development, associated with signs of increased intracranial pressure. The only diagnosis was Dandy-Walker malformation. We documented every patient in accordance with the clinical and radiological phenotypic characterizations. The genotype characterization followed accordingly.
RESULTS
All patients in family (I) manifested a phenotype consistent to a certain extent with the clinical phenotype of Shprintzen-Goldberg syndrome (SGS), though the intensity of spine deformities was greater than has been described in the literature. The second family showed a constellation of Marfanoid habitus, craniosynostosis, increased intracranial pressure, hydrocephalus, Dandy-Walker malformation, seizures, and intellectual disability. The overall clinical phenotype was consistent but not fully diagnostic of craniosynostosis-Dandy-Walker-malformation hydrocephalus syndrome. The early closure of the sutures was totally different from one patient to another, including the premature closure of the metopic, coronal, squamosal, and sagittal sutures. One patient from family (II) underwent the implementation of a shunt system at the age of 3 years, unfortunately passing over the pre-existing craniosynostosis. In addition to skeletal deformities, a history of seizures and severe intellectual disability was recorded. The proband underwent chromosomal karyotyping, the FISH test, and whole-exome sequencing.
CONCLUSION
The purpose of this study was fivefold. Firstly, to gain a meticulous understanding in order to differentiate between positional plagiocephaly, hypotonia, and congenital exophthalmos and their connections to abnormal craniofacial contours was and still is our first and foremost concern. Secondly, we aimed to characterize craniosynostosis, seizures, intellectual disabilities, and hydrocephalus associated with Marfanoid habitus, which were clearly demonstrated in our patients. Thirdly, we aimed to address the imperative for interpretations of clinical and radiological phenotypes and relate these tools to etiological understanding, which is an essential basis for diagnosis in the majority of long-term pediatric admissions. Fourthly, we aimed to assess the impacts of the missed early closure by the pediatricians and pediatric neurologists, which added a heavy pathological burden on these patients and their families. Fifthly, we aimed to identify whether early and diligent recognition can assist in cranial vault remodeling via surgical intervention to halt premature cranial suture fusions and can possibly alter the devastating course and the complications of the synostosed sutures.
PubMed: 37508737
DOI: 10.3390/children10071240 -
Orphanet Journal of Rare Diseases Jul 2023Foramen magnum stenosis is a serious, and potentially life-threatening complication of achondroplasia. The foramen magnum is smaller in infants with achondroplasia,...
Foramen magnum stenosis is a serious, and potentially life-threatening complication of achondroplasia. The foramen magnum is smaller in infants with achondroplasia, compared with the general population, and both restricted growth in the first 2 years and premature closure of skull plate synchondroses can contribute to narrowing. Narrowing of the foramen magnum can lead to compression of the brainstem and spinal cord, and result in sleep apnoea and sudden death. There is a lack of clarity in the literature on the timing of regular monitoring for foramen magnum stenosis, which assessments should be carried out and when regular screening should be ceased. The European Achondroplasia Forum (EAF) is a group of clinicians and patient advocates, representative of the achondroplasia community. Members of the EAF Steering Committee were invited to submit suggestions for guiding principles for the detection and management of foramen magnum stenosis, which were collated and discussed at an open workshop. Each principle was scrutinised for content and wording, and anonymous voting held to pass the principle and vote on the level of agreement. A total of six guiding principles were developed which incorporate routine clinical monitoring of infants and young children, timing of routine MRI screening, referral of suspected foramen magnum stenosis to a neurosurgeon, the combination of assessments to inform the decision to decompress the foramen magnum, joint decision making to proceed with decompression, and management of older children in whom previously undetected foramen magnum stenosis is identified. All principles achieved the ≥ 75% majority needed to pass (range 89-100%), with high levels of agreement (range 7.6-8.9). By developing guiding principles for the detection and management of foramen magnum stenosis, the EAF aim to enable infants and young children to receive optimal monitoring for this potentially life-threatening complication.
Topics: Child; Infant; Humans; Adolescent; Child, Preschool; Foramen Magnum; Constriction, Pathologic; Achondroplasia; Sleep Apnea Syndromes; Spinal Cord; Bone Diseases
PubMed: 37501185
DOI: 10.1186/s13023-023-02795-2 -
Paediatrics & Child Health Aug 2023Acetaminophen has gained interest in the neonatal community for its use in the management of hemodynamically significant patent ductus arteriosus (HsPDA) in preterm...
OBJECTIVES
Acetaminophen has gained interest in the neonatal community for its use in the management of hemodynamically significant patent ductus arteriosus (HsPDA) in preterm infants. We conducted a systematic review of randomized controlled trials (RCTs) comparing the efficacy and safety of acetaminophen with indomethacin for the management of HsPDA in preterm infants.
METHODS
We searched PROSPERO, OVID Medline, OVID EMBASE, Wiley Cochrane Library (CDSR and Central), EBSCO CINAHL, and SCOPUS from inception to June 15, 2021. Bibliographies of identified studies were searched for additional references. Data were analyzed with Review Manager (RevMan) Version 5.3.
RESULTS
Four RCTs were identified, enrolling a total of 380 subjects. There was no difference between the interventions for the outcome of PDA closure after one course (RR 1.04 [95% CIs: 0.84, 1.29], -value 0.70) or after two courses of treatment (RR 1.01 [95% CIs: 0.92, 1.12], -value 0.77); and for the outcome of PDA ligation (RR 1.56 [95% CIs: 0.48, 5.12], -value 0.46). However, patients who received acetaminophen had lower rates of necrotizing enterocolitis (RR 0.37 [95% CIs: 0.14, 0.95], -value 0.04). There were no significant differences noted in the other clinical outcomes, that is, intraventricular hemorrhage, bronchopulmonary dysplasia, retinopathy of prematurity requiring treatment, and death. Two studies noted significant post-treatment elevation of serum creatinine and blood urea with indomethacin, as compared to none with acetaminophen use.
CONCLUSIONS
Acetaminophen has comparable efficacy to indomethacin for the outcome of HsPDA closure, with a better safety profile, that is, lesser rates of necrotizing enterocolitis and post-treatment azotemia noted with its use.
PubMed: 37484043
DOI: 10.1093/pch/pxac130 -
Heliyon Jul 2023The aim of our study is to describe the various anesthetic techniques and intraoperative management used during transcatheter closure of hemodynamically significant PDAs...
Perioperative anesthetic management of premature neonates weighing less than 1500 grams undergoing transcatheter PDA (TC-PDA) closure: An institutional anesthetic experience.
OBJECTIVES
The aim of our study is to describe the various anesthetic techniques and intraoperative management used during transcatheter closure of hemodynamically significant PDAs in VLBW premature infants weighing less than 1.5 kg and their potential impact on postoperative outcomes using a retrospective chart review.
DESIGN
A retrospective electronic medical chart review was performed in infants who underwent Transcatheter Patent Ductus Arteriosus (TC-PDA) closure at an academic institution between January 1, 2008 and October 4th 2019. Only premature patients with isolated PDA weighing less than 1500 g at the time of the procedure were included in the study.
SETTING
Single Institutional Hospital.
PARTICIPANTS
Premature patients with isolated PDA weighing less than 1500 g at the time of the procedure.
INTERVENTIONS
None.
MEASUREMENTS AND MAIN RESULTS
Interprocedurally, there was no evidence of device embolization or clinically significant vascular obstruction on follow-up echocardiography, and inotropic or vasoactive infusions were not required. All patients survived and were discharged from the hospital after a mean of 86.4 ± 48.49 days (median 74, range 40-180) following initial admission to the NICU. At 7 post-operative days, freedom from ventilatory support reached 70% in all patients. Incidences of device embolization or clinically significant vascular obstruction were not noted on follow-up echocardiography.
CONCLUSIONS
Though our preliminary findings show promising outcomes following TC-PDA closure relative to traditional surgical approaches, further investigations with higher patient volume are needed to validate these promising observations.
PubMed: 37456008
DOI: 10.1016/j.heliyon.2023.e17465 -
European Journal of Case Reports in... 2023The most common cause of vasoplegic shock in critical care is sepsis. However, although rarely and only in specifically sensitised individuals previously bitten by a...
UNLABELLED
The most common cause of vasoplegic shock in critical care is sepsis. However, although rarely and only in specifically sensitised individuals previously bitten by a tick, red meat may provoke a delayed allergic reaction called an alpha-gal syndrome. We present a case of a protracted life-threatening manifestation of alpha-gal syndrome, which, due to an unusual absence of typical features of anaphylaxis can masquerade as septic shock and calls attention to the premature diagnostic closure as a contributor to diagnostic error. Alpha-gal syndrome is a relatively new, but increasingly recognised health issue. We propose that alpha-gal syndrome should be considered in the differential diagnosis of vasoplegic shock of unclear aetiology even in the absence of typical allergic symptomatology and typical allergen exposure since alpha-gal is present in a wide variety of carriers.
LEARNING POINTS
Alpha-gal syndrome, otherwise known as "red meat allergy", is a potentially life-threatening allergic syndrome induced by the immunological properties of tick saliva.A typical case of alpha-gal syndrome is a patient bitten by a tick who develops an allergic reaction, anaphylaxis or anaphylactic shock even after an ingestion of a significant amount of alpha-gal, typically present in red mammalian meat or organs.As global warming continues, we may expect tick-borne diseases to spread wider around the globe and due to the possibility of complete absence of typical allergic symptomatology and the delayed onset of symptoms, this syndrome needs to be considered when encountering vasoplegic shock of uncertain origin.
PubMed: 37455690
DOI: 10.12890/2023_003939 -
Acta Orthopaedica Jul 2023Premature physeal closure (PPC) is a common and concerning complication to distal femoral fractures as the distal growth plate accounts for 70% of the growth of the...
BACKGROUND AND PURPOSE
Premature physeal closure (PPC) is a common and concerning complication to distal femoral fractures as the distal growth plate accounts for 70% of the growth of the femur. The literature is not unanimous in determining the risk factors of PPC, and the epidemiological characterization of these fractures is limited. Our aim was to calculate the population-based incidence and investigate risk factors for PPC in these fractures.
PATIENTS AND METHODS
In this register-based study, between 2014 and 2021, 70 children with distal femoral physeal fractures presented to our hospital. Demographic data, and fracture- and treatment-related details were collected using the Kids' Fracture Tool. A directed acyclic graph (DAG) was constructed to determine confounding factors used in the risk analysis.
RESULTS
Physeal fractures of the distal femur occurred with an annual incidence of 6/105 children, and a resulting PPC occurred in 16/70 (23%) with an annual incidence of 1.3/105 children. In multivariable analysis, dislocation exceeding 10 mm was a risk factor for PPC (OR 6.3, CI 1.4-22).
CONCLUSION
One-fourth of distal femoral physeal fractures developed PPC. Greater dislocation and higher injury energy were significant risk factors, whereas choice of fracture treatment was not an independent risk factor. All patients with PPC belonged in the age group 11-16 years.
Topics: Child; Humans; Adolescent; Growth Plate; Femoral Fractures, Distal; Tibial Fractures; Epiphyses; Risk Factors; Femur; Retrospective Studies; Femoral Fractures; Salter-Harris Fractures
PubMed: 37449728
DOI: 10.2340/17453674.2023.13654 -
Revista Paulista de Pediatria : Orgao... 2023To describe the incidence and to analyze risk factors associated with cholestasis in neonates with gastroschisis.
OBJECTIVE
To describe the incidence and to analyze risk factors associated with cholestasis in neonates with gastroschisis.
METHODS
This is a retrospective cohort study in a tertiary single center analyzing 181 newborns with gastroschisis between 2009 and 2020. The following risk factors associated with cholestasis were analyzed: gestational age, birth weight, type of gastroschisis, silo closure or immediate closure, days of parenteral nutrition, type of lipid emulsion, days of fasting, days to reach a full diet, days with central venous catheter, presence of infections, and outcomes.
RESULTS
Among the 176 patients evaluated, 41 (23.3%) evolved with cholestasis. In the univariate analysis, low birth weight (p=0.023), prematurity (p<0.001), lipid emulsion with medium-chain triglycerides and long-chain triglycerides (p=0.001) and death (p<0.001) were associated with cholestasis. In the multivariate analysis, patients who received lipid emulsion with fish oil instead of medium chain triglycerides/long chain triglycerides (MCT/LCT) emulsion had a lower risk of cholestasis.
CONCLUSIONS
Our study shows that lipid emulsion with fish oil is associated with a lower risk of cholestasis in neonates with gastroschisis. However, this is a retrospective study and a prospective study should be performed to confirm the results.
Topics: Humans; Infant, Newborn; Birth Weight; Retrospective Studies; Emulsions; Gastroschisis; Prospective Studies; Soybean Oil; Fish Oils; Cholestasis; Triglycerides
PubMed: 37436246
DOI: 10.1590/1984-0462/2024/42/2022152 -
Echocardiographic parameters predicting spontaneous closure of ductus arteriosus in preterm infants.Frontiers in Pediatrics 2023To evaluate the value of echocardiographic parameters in predicting early spontaneous closure of ductus arteriosus in premature infants.
OBJECTIVE
To evaluate the value of echocardiographic parameters in predicting early spontaneous closure of ductus arteriosus in premature infants.
METHODS
222 premature infants admitted to the neonatal ward of our hospital were selected, and patent ductus arteriosus was detected by echocardiography 48 h after birth. On the 7th day, whether the ductus arteriosus was closed naturally in this cohort was observed. The infants whose ductus arteriosus were not closed were identified as the PDA group ( = 109), and the other infants were included in the control group ( = 113). The echocardiographic parameters of the two groups of premature infants at 48 h after birth were single-factor statistically and Pearson correlation analyzed, and the parameters with statistically significant differences in single-factor analyzed were selected for multivariate logistic stepwise regression analysis.
RESULTS
The ductus arteriosus shunt velocity and the pressure difference between the descending aorta and the pulmonary artery (ΔPs) in the PDA group were lower than those in the control group ( < 0.05). The pulmonary artery pressure (PASP) in the PDA group was higher than that in the control group ( < 0.05). According to the multivariate logistic stepwise regression analysis, only the maximum shunt velocity of ductus arteriosus was correlated with early spontaneous closure of ductus arteriosus in 48 h first echocardiographic parameters ( = 0.049). The receiver operating characteristic (ROC) curve indicates the optimal critical point of echocardiographic ductus arteriosus shunt velocity in premature infants 48 h after birth was 1.165 m/s.
CONCLUSION
Echocardiographic parameters are of great value in predicting the early spontaneous closure of ductus arteriosus in premature infants. In particular, the ductus arteriosus shunt velocity is correlated with the early spontaneous closure of ductus arteriosus.
PubMed: 37397143
DOI: 10.3389/fped.2023.1198936 -
Best Practice & Research. Clinical... Aug 2023The increase in caesarean sections (CS) has resulted in an increase in women with a uterine niche. The exact aetiology of niche development has yet to be elucidated but... (Review)
Review
The increase in caesarean sections (CS) has resulted in an increase in women with a uterine niche. The exact aetiology of niche development has yet to be elucidated but is likely multifactorial. This study aimed to give a systematic overview of the available literature on histopathological features, risk factors and results of preventive strategies on niche development to gain more insight into the underlying mechanisms. Based on current published data histopathological findings associated with niche development were necrosis, fibrosis, inflammation, adenomyosis and insufficient approximation. Patient-related risk factors included multiple CS, BMI and smoking. Labour-related factors were CS before onset of labour, extended cervical dilatation, premature rupture of membranes and presenting part of the fetus at CS below the pelvic inlet. Preventive strategies should focus on the optimal level of incision, training of surgeons and full-thickness closure of the myometrium (single or double-layer) using non-locking sutures. Conflicting data exist concerning the effect of endometrial inclusion. Future studies without heterogeneity in population, using standardized performance of the CS after proper training and using standardized niche evaluation with a relevant core outcome set are required to allow meta-analyses and to develop evidence-based preventive strategies. These studies are needed to reduce the prevalence of niches and prevent complications in subsequent pregnancies such as caesarean scar pregnancies.
Topics: Pregnancy; Female; Humans; Cicatrix; Uterus; Cesarean Section; Myometrium; Risk Factors
PubMed: 37385157
DOI: 10.1016/j.bpobgyn.2023.102363