-
Ultrasound in Obstetrics & Gynecology :... Aug 2022To evaluate the incidence of antenatally diagnosed brain injury in twin pregnancy complicated by twin-to-twin transfusion syndrome (TTTS) and to quantify the perinatal... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVES
To evaluate the incidence of antenatally diagnosed brain injury in twin pregnancy complicated by twin-to-twin transfusion syndrome (TTTS) and to quantify the perinatal mortality, morbidity and long-term neurodevelopmental outcome of these fetuses.
METHODS
MEDLINE, EMBASE, ClinicalTrials.gov and The Cochrane Library databases were searched. Inclusion criteria were studies reporting on brain abnormality diagnosed antenatally in twin pregnancies complicated by TTTS. The primary outcome was the incidence of prenatal brain abnormality. The secondary outcomes were intrauterine demise (IUD), neonatal death, termination of pregnancy (TOP) and long-term morbidity. Outcomes were explored in the population of fetuses with antenatal diagnosis of brain abnormality. Subgroup analysis according to the type of treatment, gestational age, Quintero stage at diagnosis and/or treatment, and cotwin death was planned. Meta-analysis of proportions was used to combine data and pooled proportions and their 95% CI were reported.
RESULTS
Thirteen studies including 1573 cases of TTTS and 88 fetuses with an antenatal diagnosis of brain abnormality were included in the systematic review. The meta-analysis included only studies reporting on brain abnormality in twin pregnancy complicated by TTTS cases and treated with laser surgery. Overall, brain injury occurred in 2.2% (52/2410) of fetuses (eight studies). Brain abnormality was reported in 1.03% and 0.82% of recipients and donors, respectively. The most common type of abnormality was ischemic lesions (30.4% (95% CI, 19.1-43.0%)), followed by destructive lesions (23.9% (95% CI, 13.7-35.9%)), ventriculomegaly (19.9% (95% CI, 10.6-31.3%)) and hemorrhagic lesions (15.3% (95% CI, 7.1-25.8%)). Spontaneous IUD occurred in 13.4% (95% CI, 5.1-24.8%) of fetuses, while TOP was chosen by parents in 53.5% (95% CI, 38.9-67.8%) cases. Neonatal death was reported by only three studies, with an incidence of 15.4% (95% CI, 2.8-35.4%). Finally, only two studies reported on composite morbidity, with an overall rate of the outcome of 20.4% (95% CI, 2.5-49.4%) and rates of 29.7% and 20.4% in the recipient and donor fetuses, respectively. Due to the small numbers, only composite morbidity was analyzed and no information on neonatal intensive care unit admission, respiratory distress syndrome or other long-term outcomes, such as neurodevelopmental delay and cerebral palsy, could be retrieved reliably.
CONCLUSIONS
The overall incidence of antenatally diagnosed fetal brain abnormality in twin pregnancy complicated by TTTS treated with laser surgery is around 2% and is mainly ischemic in nature (30.4%). TOP was chosen by parents in more than half of cases (53.5%). No information could be retrieved on morbidity outcomes, highlighting the urgent need for long-term follow-up studies of these children. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.
Topics: Brain; Brain Injuries; Child; Female; Fetofetal Transfusion; Gestational Age; Humans; Incidence; Infant, Newborn; Nervous System Malformations; Perinatal Death; Pregnancy; Pregnancy Outcome; Pregnancy, Twin
PubMed: 35233861
DOI: 10.1002/uog.24895 -
Frontiers in Endocrinology 2023To analyze and determine the safety and efficacy of growth hormone (GH) treatment in Down syndrome (DS) pediatric patients and to weigh ethical aspects involved. (Meta-Analysis)
Meta-Analysis
OBJECTIVE
To analyze and determine the safety and efficacy of growth hormone (GH) treatment in Down syndrome (DS) pediatric patients and to weigh ethical aspects involved.
DESIGN
Systematic review and mini meta-analysis of the literature.
METHODS
A search was performed in PubMed, Embase, Scopus, and PsycINFO through August 2022. Eligible studies included those who answered at least one of the following two questions: 1) What is the effect of growth hormone treatment in children with Down syndrome? 2) What are the ethical arguments in favor and against growth hormone treatment for children with Down syndrome? Multiple reviewers independently screened each article for eligibility.
RESULTS
In total sixteen reports detailed medical effects of GH treatment in pediatric DS patients and eight studies dealt with ethical aspects of GH treatment. Treatment with GH resulted in significantly higher growth velocity in patients with DS. The ethical complexity is great but does not present insurmountable difficulties to the therapeutic option.
CONCLUSIONS
As GH treatment is safe and effective for short-term height growth, GH therapy should be considered in long-term treatment of DS children.
Topics: Humans; Child; Human Growth Hormone; Down Syndrome; Body Height; Insulin-Like Growth Factor I
PubMed: 37152958
DOI: 10.3389/fendo.2023.1135768 -
Molecular Autism Jul 2023Septo-optic dysplasia (SOD) is a rare condition diagnosed in children with two or more of the following: hypopituitarism, midline brain abnormalities, and optic nerve... (Review)
Review
BACKGROUND
Septo-optic dysplasia (SOD) is a rare condition diagnosed in children with two or more of the following: hypopituitarism, midline brain abnormalities, and optic nerve hypoplasia. Children with SOD experience varied visual impairment and endocrine dysfunction. Autistic-like behaviours have been reported; however, their nature and prevalence remain to be fully understood. The present systematic review aimed to explore the type and prevalence of neurodevelopmental impairments in children with SOD spectrum conditions.
METHODS
The search was conducted in PubMed, EMBASE, and PsycInfo. Hand-searching reference lists of included studies was conducted. All peer-reviewed, observational studies assessing behavioural and cognitive impairments or autism spectrum disorder (ASD) symptoms in children (< 18 years) with SOD, optic nerve hypoplasia, and SOD-plus were included. Studies were excluded if they did not report standardised measures of neurodevelopmental impairments or ASD outcomes.
RESULTS
From 2132 screened articles, 20 articles reporting data from a total of 479 children were included in prevalence estimates. Of 14 studies assessing cognitive-developmental outcomes, 175 of 336 (52%) children presented with intellectual disability or developmental delay. A diagnosis of ASD or clinical level of symptoms was observed in 65 of 187 (35%) children across five studies. Only five studies assessed for dysfunction across behavioural, emotional, or social domains and reported impairments in 88 of 184 (48%) of children assessed.
LIMITATIONS
Importantly, high heterogeneity among the samples in relation to their neuroanatomical, endocrine, and optic nerve involvement meant that it was not possible to statistically assess the relative contribution of these confounding factors to the specific neurodevelopmental phenotype. This was further limited by the variation in study designs and behavioural assessments used across the included studies, which may have increased the risk of information bias.
CONCLUSIONS
This systematic review suggests that the prevalence of neurodevelopmental impairments in children within the SOD spectrum may be high. Clinicians should therefore consider including formal assessments of ASD symptoms and neurodevelopmental impairments alongside routine care. There is, additionally, a need for further research to define and validate a standardised battery of tools that accurately identify neurodevelopmental impairments in SOD spectrum conditions, and for research to identify the likely causal mechanisms.
Topics: Humans; Septo-Optic Dysplasia; Autism Spectrum Disorder; Optic Nerve Hypoplasia; Hypopituitarism; Autistic Disorder
PubMed: 37491272
DOI: 10.1186/s13229-023-00559-0 -
BMC Pregnancy and Childbirth Dec 2023The occurrence of orofacial Clefts (OFCs) is a congenital disease caused by many factors. According to recent studies, air pollution has a strong correlation with the... (Meta-Analysis)
Meta-Analysis
BACKGROUND
The occurrence of orofacial Clefts (OFCs) is a congenital disease caused by many factors. According to recent studies, air pollution has a strong correlation with the occurrence of OFCs. However, there are still some controversies about the current research results, and there is no relevant research to review the latest results in recent years.
OBJECTIVE
In this paper, the authors conducted a systematic review and meta-analysis to explore the correlation between ambient air pollution and the occurrence of neonatal OFCs deformity.
METHODS
We searched Pubmed, Web of science, and Embase databases from the establishment of the database to May 2023. We included observational studies on the relationship between prenatal exposure to fine particulate matter 2.5 (PM2.5), fine particulate matter 10 (PM10), sulfur dioxide (SO2), nitrogen dioxide (NO2), ozone (O3), carbon monoxide (CO) and the risk of cleft lip (CL), cleft palate (CP), cleft lip with or without palate (CL/P). the Newcastle-Ottawa quality assessment scale (NOS) was used to evaluate the quality of the literature. Funnel plot and Egger's regression were used to verify the publication bias. Random effect model or fixed effect model was used to estimate the combined relative risk (RR) and 95% confidence interval (95%CI).
RESULTS
A total of eleven studies were included in this study, including four cohort studies and seven case-control studies, including 22,453 cases of OFCs. Ten studies had low risk of bias and only one study had high risk of bias. Three studies reported that PM was positively correlated with CL and CP, with a combined RR and 95%CI of 1.287(1.174,1.411) and 1.267 (1.105,1.454). Two studies reported a positive correlation between O and CL, with a combined RR and 95%CI of 1.132(1.047,1.225). Two studies reported a positive correlation between PM and CL, with a combined RR and 95%CI of 1.108 (1.017,1.206). No association was found between SO, CO, NO exposure during pregnancy and the risk of OFCs.
CONCLUSION
The results of this study showed that there was a significant statistical correlation between exposure to PM, PM, O and the risk of OFCs in the second month of pregnancy. Exposure assessment, research methods and mechanisms need to be further explored.
Topics: Infant, Newborn; Female; Pregnancy; Humans; Air Pollutants; Cleft Lip; Cleft Palate; Air Pollution; Particulate Matter; Ozone; Sulfur Dioxide; Nitrogen Dioxide; Environmental Exposure
PubMed: 38041018
DOI: 10.1186/s12884-023-06104-4 -
British Journal of Cancer Jun 2023Costello syndrome (CS) is a cancer-predisposition disorder caused by germline pathogenic variants in HRAS. We conducted a systematic review using case reports and case... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Costello syndrome (CS) is a cancer-predisposition disorder caused by germline pathogenic variants in HRAS. We conducted a systematic review using case reports and case series to characterise cancer risk in CS.
METHODS
We conducted a systematic review to identify CS cases to create a retrospective cohort. We tested genotype-phenotype correlations and calculated cumulative incidence and hazard rates (HR) for cancer and cancer-free death, standardised incidence rates (SIR) and survival after cancer.
RESULTS
This study includes 234 publications reporting 621 patients from 35 countries. Over nine percent had cancer, including rhabdomyosarcoma, bladder, and neuroblastoma. The rate of cancer and death associated with p.Gly12Ser were lower when compared to all other variants (P < 0.05). Higher mortality for p.Gly12Cys, p.Gly12Asp, p.Gly12Val and p.Gly60Val and higher malignancy rate for p.Gly12Ala were confirmed (P < 0.05). Cumulative incidence by age 20 was 13% (cancer) and 11% (cancer-free death). HR (death) was 3-4% until age 3. Statistically significant SIRs were found for rhabdomyosarcoma (SIR = 1240), bladder (SIR = 1971), and neuroblastoma (SIR = 60). Survival after cancer appeared reduced.
CONCLUSIONS
This is the largest investigation of cancer in CS to date. The high incidence and SIR values found to highlight the need for rigorous surveillance and evidence-based guidelines for this high-risk population.
Topics: Humans; Costello Syndrome; Retrospective Studies; Genotype; Rhabdomyosarcoma; Neuroblastoma
PubMed: 36966234
DOI: 10.1038/s41416-023-02229-7 -
The Journal of Clinical Endocrinology... Jan 2022Anti-Mullerian hormone (AMH) was originally described in the context of sexual differentiation in the male fetus but has gained prominence now as a marker of ovarian...
CONTEXT
Anti-Mullerian hormone (AMH) was originally described in the context of sexual differentiation in the male fetus but has gained prominence now as a marker of ovarian reserve and fertility in females. In this mini-review, we offer an updated synopsis on AMH and its clinical utility in pediatric patients.
DESIGN AND RESULTS
A systematic search was undertaken for studies related to the physiology of AMH, normative data, and clinical role in pediatrics. In males, AMH, secreted by Sertoli cells, is found at high levels prenatally and throughout childhood and declines with progression through puberty to overlap with levels in females. Thus, serum AMH has clinical utility as a marker of testicular tissue in males with differences in sexual development and cryptorchidism and in the evaluation of persistent Mullerian duct syndrome. In females, serum AMH has been used as a predictive marker of ovarian reserve and fertility, but prepubertal and adolescent AMH assessments need to be interpreted cautiously. AMH is also a marker of tumor burden, progression, and recurrence in germ cell tumors of the ovary.
CONCLUSIONS
AMH has widespread clinical diagnostic utility in pediatrics but interpretation is often challenging and should be undertaken in the context of not only age and sex but also developmental and pubertal stage of the child. Nonstandardized assays necessitate the need for assay-specific normative data. The recognition of the role of AMH beyond gonadal development and maturation may usher in novel diagnostic and therapeutic applications that would further expand its utility in pediatric care.
Topics: Anti-Mullerian Hormone; Child; Child Development; Cryptorchidism; Disorder of Sex Development, 46,XY; Female; Gonads; Humans; Male; Ovarian Reserve; Sexual Maturation
PubMed: 34537849
DOI: 10.1210/clinem/dgab687 -
BMC Pregnancy and Childbirth Oct 2016Bipolar Disorder (BD) is a mental disorder usually diagnosed between 18 and 30 years of age; this coincides with the period when many women experience pregnancy and... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Bipolar Disorder (BD) is a mental disorder usually diagnosed between 18 and 30 years of age; this coincides with the period when many women experience pregnancy and childbirth. As specific problems have been reported in pregnancy and childbirth when the mother has BD, a systematic review was carried out to summarise the outcomes of pregnancy and childbirth, in mother and child, when the mother has BD diagnosed before pregnancy.
METHODS
An a priori protocol was designed and a systematic search conducted in PubMed, CINAHL, Scopus, PsycINFO and Cochrane databases in March 2015. Studies of all designs were included if they involved women with a diagnosis of bipolar disorder prior to pregnancy, who were pregnant and/or followed up to one year postpartum. All stages of inclusion, quality assessment and data extraction were done by two people. All maternal or infant outcomes were examined, and narrative synthesis was used for most outcomes. Meta-analysis was used to achieve a combined prevalence for some outcomes and, where possible, case and control groups were combined and compared.
RESULTS
The search identified 2809 papers. After screening and quality assessement (using the EPHPP and AMSTAR tools), nine papers were included. Adverse pregnancy outcomes such as gestational hypertension and antepartum haemorrhage occur more frequently in women with BD. They also have increased rates of induction of labour and caesarean section, and have an increased risk of mood disorders in the postnatal period. Women with BD are more likely to have babies that are severely small for gestational age (<2nd-3rd percentile), and it appears that those women not being treated with mood stabilisers in pregnancy might not have an increased risk of having a baby with congenital abnormalities.
DISCUSSION
Due to heterogeneity of data, particularly the use of differing definitions of bipolar disorder, narrative synthesis was used for most outcomes, rather than a meta-analysis.
CONCLUSIONS
It is evident that adverse outcomes are more common in women with BD and their babies. Large cohort studies examining fetal abnormality outcomes for women with BD who are not on mood stabilisers in pregnancy are required, as are studies on maternal-infant interaction.
Topics: Bipolar Disorder; Case-Control Studies; Delivery, Obstetric; Female; Humans; Hypertension, Pregnancy-Induced; Infant, Newborn; Infant, Small for Gestational Age; Parturition; Postpartum Hemorrhage; Postpartum Period; Pregnancy; Pregnancy Complications; Pregnancy Outcome
PubMed: 27793111
DOI: 10.1186/s12884-016-1127-1 -
Foot (Edinburgh, Scotland) Dec 2021The standard of care in the treatment of symptomatic tarsal coalitions is open surgery. However, certain limitations exist with open surgery, which include limited... (Review)
Review
INTRODUCTION
The standard of care in the treatment of symptomatic tarsal coalitions is open surgery. However, certain limitations exist with open surgery, which include limited visualization leading to an incomplete resection and possible recurrence of the tarsal coalition. Arthroscopic tarsal coalition resection (TCR) is an alternative that is gaining traction, primarily as the safety profile of posterior ankle and subtalar arthroscopy is more well understood. This study provides a systematic review of the outcomes of arthroscopic TCR.
METHODS
PubMed and Embase were searched independently by 2 reviewers for relevant articles based on predetermined criteria. The subject heading "tarsal coalition" and its related key terms were used.
RESULTS
A total of 416 studies were revealed by the initial search, out of which only 6 met our predetermined inclusion criteria. A total of 42 patients (average age: 17.6 years) were treated with arthroscopic TCR. Thirty-three (78.6%) and 9 (21.4%) patients had talocalcaneal and calcaneonavicular coalitions, respectively. The follow-up period ranged from 6 to 60 months (mean: 26 months), and no recurrence of the tarsal coalition was detected (0.0%). Complications occurred in two (4.8%) patients only, with one developing complex regional pain syndrome (CRPS), and another patient developing hyperesthesia on the medial aspect of the calcaneus.
CONCLUSION
Arthroscopic TCR is a feasible and effective surgery for both CNC and TCC with minimal complications and no disease recurrence at an average of 26 months follow-up. Future high-level of evidence studies are needed to compare the outcomes of open versus arthroscopic TCR.
Topics: Adolescent; Arthroscopy; Calcaneus; Humans; Synostosis; Tarsal Bones; Tarsal Coalition
PubMed: 34597922
DOI: 10.1016/j.foot.2021.101864 -
Oral Surgery, Oral Medicine, Oral... Dec 2023We examined the range, nature, and extent of research conducted regarding the oral and dental implications of hereditary hemorrhagic telangiectasia (HHT) to identify... (Review)
Review
OBJECTIVE
We examined the range, nature, and extent of research conducted regarding the oral and dental implications of hereditary hemorrhagic telangiectasia (HHT) to identify gaps in the research and knowledge of the field.
STUDY DESIGN
We performed a scoping review according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews and 2017 Guidance for the Conduct of Joanna Briggs Institute Scoping Reviews. We searched the MEDLINE and Web of Science databases for all full-text articles published in English from December 1946 to October 2022.
RESULTS
We identified 103 articles describing oral and dental considerations of patients with HHT, primarily case reports. Most reported oral telangiectasias of the tongue, lips, and palate. Many reported management of bleeding and the use or recommendation of prophylactic antibiotics before dental procedures.
CONCLUSIONS
Oral telangiectasias are commonly found in patients with hereditary hemorrhagic telangiectasia, and dental professionals may be the first to diagnose it in their patients. Early detection and diagnosis are important to prevent potentially fatal outcomes, and prophylactic antibiotics before procedures may be warranted.
Topics: Humans; Telangiectasia, Hereditary Hemorrhagic; Telangiectasis; Hemorrhage; Anti-Bacterial Agents
PubMed: 37752017
DOI: 10.1016/j.oooo.2023.08.001 -
European Journal of Vascular and... Dec 2022Since the first description of the median arcuate ligament syndrome (MALS), the existence for the syndrome and the efficacy of treatment for it have been questioned. (Review)
Review
OBJECTIVE
Since the first description of the median arcuate ligament syndrome (MALS), the existence for the syndrome and the efficacy of treatment for it have been questioned.
METHODS
A systematic review conforming to the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) statement was conducted, with a broader view on treatment for MALS including any kind of coeliac artery release, coeliac plexus resection, and coeliac plexus blockage, irrespective of age. Online databases were used to identify papers published between 1963 and July 2021. The inclusion criteria were abdominal symptoms, proof of MALS on imaging, and articles reporting at least three patients. Primary outcomes were symptom relief and quality of life (QoL).
RESULTS
Thirty-eight studies describing 880 adult patients and six studies describing 195 paediatric patients were included. The majority of the adult studies reported symptom relief of more than 70% from three to 228 months after treatment. Two adult studies showed an improved QoL after treatment. Half of the paediatric studies reported symptom relief of more than 70% from six to 62 months after laparoscopic coeliac artery release, and four studies reported an improved QoL. Thirty-five (92%) adult studies and five (83%) paediatric studies scored a high or unclear risk of bias for the majority of the Quality Assessment of Diagnostic Accuracy Studies 2 (QUADAS-2) items. The meaning of coeliac plexus resection or blockage could not be substantiated.
CONCLUSION
This systematic review suggests a sustainable symptom relief of more than 70% after treatment for MALS in the majority of adult and paediatric studies; however, owing to the heterogeneity of the inclusion criteria and outcome parameters, the risk of bias was high and a formal meta-analysis could not be performed. To improve care for patients with MALS the next steps would be to deal with reporting standards, outcome definitions, and consensus descriptions of the intervention(s), after which an appropriate randomised controlled trial should be performed.
Topics: Adult; Humans; Child; Median Arcuate Ligament Syndrome; Quality of Life; Constriction, Pathologic; Celiac Artery; Decompression, Surgical
PubMed: 36075541
DOI: 10.1016/j.ejvs.2022.08.033