Differential diagnosis of syndromic craniosynostosis: a case series

Abstract Purpose Syndromic craniosynostosis is a rare genetic disease caused by premature fusion of one or multiple cranial sutures combined with malformations of other organs. The aim of this publication is to investigate sonographic signs of different syndromic craniosynostoses and associated malformations to facilitate a precise and early diagnosis. Methods We identified in the period of 2000–2019 thirteen cases with a prenatal suspected diagnosis of syndromic craniosynostosis at our department. We analyzed the ultrasound findings, MRI scans, genetic results as well as the mode of delivery, and postnatal procedures. Results Eight children were diagnosed with Apert Syndrome, two with Saethre Chotzen syndrome, one with Crouzon syndrome, and one with Greig cephalopolysyndactyly syndrome. One child had a mutation p.(Pro253Leu) in the FGFR2 gene. We identified characteristic changes of the head shape as well as typical associated malformations. Conclusion Second trimester diagnosis of syndromic craniosynostosis is feasible based on the identified sonographic signs. In case of a suspected diagnosis a genetic, neonatal as well as surgical counseling is recommended. We also recommend to offer a fetal MRI. The delivery should be planned in a perinatal center.

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Apert Syndrome: Case Series and Review of The Literature

Jurnal Plastik Rekonstruksi ◽

10.14228/jprjournal.v8i1.316 ◽

2021 ◽

Vol 8 (1) ◽

pp. 1-5

Author(s):

Silvina Silvina ◽

Rizka Khairiza ◽

Muhammad Rizqy Setyarto

Keyword(s):

Molecular Genetic ◽

Case Series ◽

Clinical Findings ◽

Apert Syndrome ◽

Review Of The Literature ◽

Skull Shape ◽

Syndromic Craniosynostosis ◽

Upper And Lower Extremities ◽

Hands And Feet

Summary: Apert syndrome is a type 1 acrocephalosyndactyly, a rare syndrome characterized by the presence of multiple craniosynostoses, dysmorphic facial manifestations, and syndactyly of hand and feet. It affects 1:100.00 of birth and the second most common of syndromic craniosynostosis. Molecular genetic tests that identify the heterozygous pathogenic variant in FGFR2 genes - identical with Apert syndrome cost too high to be applicable in developing countries. Therefore, the diagnosis of Apert syndrome should be suspected from the clinical findings. Three cases from the Community of Indonesian Apert Warrior Group were collected. These series were based on medical and surgical records. We obtained the patient characteristic from the phenotypic manifestations only. We present cases of 6-years-old male, 2-years-old female, and 3-years-old female, respectively, with similar anatomical findings, such as skull shape abnormality, midface hypoplasia, intraoral disfigurement, and hands and feet deformities that resemble Apert Syndrome. Our series presents similar Apert syndrome characteristics, such as typical craniofacial dysmorphic with symmetrical syndactyly of both upper and lower extremities. These clinical findings are essential to establish an initial diagnostic of Apert Syndrome.

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Maternal and perinatal outcomes in women with eclampsia by mode of delivery at Riley mother baby hospital: a longitudinal case-series study

BMC Pregnancy and Childbirth ◽

10.1186/s12884-021-03875-6 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Koech Irene ◽

Poli Philippe Amubuomombe ◽

Richard Mogeni ◽

Cheruiyot Andrew ◽

Ann Mwangi ◽

...

Keyword(s):

Pregnant Women ◽

Perinatal Mortality ◽

Mode Of Delivery ◽

Case Series ◽

Perinatal Outcomes ◽

Induction Of Labour ◽

Chi Square ◽

Case Series Study ◽

Chi Square Test ◽

Series Study

Abstract Background Eclampsia, considered as serious complication of preeclampsia, remains a life-threatening condition among pregnant women. It accounts for 12% of maternal deaths and 16–31% of perinatal deaths worldwide. Most deaths from eclampsia occurred in resource-limited settings of sub-Saharan Africa. This study was performed to determine the optimum mode of delivery, as well as factors associated with the mode of delivery, in women admitted with eclampsia at Riley Mother and Baby Hospital. Methods This was a hospital-based longitudinal case-series study conducted at the largest and busiest obstetric unit of the tertiary hospital of western Kenya. Maternal and perinatal variables, such as age, parity, medications, initiation of labour, mode of delivery, admission to the intensive care unit, admission to the newborn care unit, organ injuries, and mortality, were analysed using the Statistical Package for the Social Sciences software version 20.0. Quantitative data were described using frequencies and percentages. The significance of the obtained results was judged at the 5% level. The chi-square test was used for categorical variables, and Fisher’s exact test or the Monte Carlo correction was used for correction of the chi-square test when more than 20% of the cells had an expected count of less than 5. Results During the study period, 53 patients diagnosed with eclampsia were treated and followed up to 6 weeks postpartum. There was zero maternal mortality; however, perinatal mortality was reported in 9.4%. Parity was statistically associated with an increased odds of adverse perinatal outcomes (p = 0.004, OR = 9.1, 95% CI = 2.0–40.8) and caesarean delivery (p = 0.020, OR = 4.7, 95% CI = 1.3–17.1). In addition, the induction of labour decreased the risk of adverse outcomes (p = 0.232, OR = 0.3, 95% CI = 0.1–2.0). Conclusion There is no benefit of emergency caesarean section for women with eclampsia. This study showed that induction of labour and vaginal delivery can be successfully achieved in pregnant women with eclampsia. Maternal and perinatal mortality from eclampsia can be prevented through prompt and effective care.

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Sealing of superior semicircular canal dehiscence is associated with improved balance outcomes postoperatively versus plugging of the canal in middle fossa craniotomy repairs: a case series

Journal of Neurosurgery ◽

10.3171/2019.4.jns19264 ◽

2020 ◽

Vol 133 (2) ◽

pp. 462-466

Author(s):

Vivian Wung ◽

Prasanth Romiyo ◽

Edwin Ng ◽

Courtney Duong ◽

Thien Nguyen ◽

...

Keyword(s):

Semicircular Canal ◽

Chart Review ◽

Case Series ◽

Superior Semicircular Canal Dehiscence ◽

Superior Semicircular Canal ◽

Postoperative Mri ◽

Mri Scans ◽

Postoperative Symptoms ◽

Fluid Signal ◽

Canal Dehiscence

OBJECTIVEThe authors compared postoperative symptoms between patients with sealed and those with plugged semicircular canal dehiscence repairs.METHODSIn total, 136 ears from 118 patients who underwent surgical repair for semicircular canal dehiscence were identified via chart review. Data from postoperative MRI scans showing preservation or loss of semicircular canal fluid signal and postoperative reports of autophony, amplification, aural fullness, tinnitus, hyperacusis, hearing loss, vertigo, dizziness, disequilibrium, oscillopsia, and headache were amalgamated and analyzed.RESULTSPatients with preservation of fluid signal were far less likely to have dizziness postoperatively (p = 0.007, OR 0.158, 95% CI 0.041–0.611). In addition, these patients were more likely to have tinnitus postoperatively (p = 0.028, OR 3.515, 95% CI 1.145–10.787).CONCLUSIONSThe authors found that superior semicircular canal dehiscence patients who undergo sealing without plugging have improved balance outcomes but show more tinnitus postoperatively than patients who undergo plugging.

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Maternal and Perinatal Outcomes in Women with Eclampsia by Mode of delivery at Riley Mother Baby Hospital: A longitudinal case-series study

10.21203/rs.3.rs-61697/v1 ◽

2020 ◽

Author(s):

Philippe Amubuomombe Poli ◽

Koech MMED Irene ◽

Richard Mogeni ◽

Ann Mwangi ◽

Andrew Cheruiyot ◽

...

Keyword(s):

Mode Of Delivery ◽

Case Series ◽

Perinatal Outcomes ◽

Adverse Outcomes ◽

Sub Saharan Africa ◽

Categorical Variables ◽

Chi Square ◽

Case Series Study ◽

Chi Square Test ◽

Series Study

Abstract Background Eclampsia, considered a serious complication of preeclampsia, remains a life-threatening condition among pregnant women. It accounts for 12% of maternal deaths and 16–31% of perinatal deaths worldwide. Most deaths from eclampsia occurred in resource-limited settings of sub-Saharan Africa. This study was performed to determine the optimum mode of delivery, as well as factors associated with the mode of delivery, in women admitted with eclampsia at Riley Mother and Baby Hospital. Methods This was a hospital-based longitudinal case-series study conducted at the largest and busiest obstetric unit of the tertiary hospital of western Kenya. Maternal and perinatal variables, such as age, parity, medications, initiation of labour, mode of delivery, admission to the intensive care unit, admission to the newborn care unit, organ injuries, and mortality, were analysed using the Statistical Package for the Social Sciences software version 20.0. Quantitative data were described using frequencies and percentages. The significance of the obtained results was judged at the 5% level. The chi-square test was used for categorical variables, and Fisher’s exact test or the Monte Carlo correction was used for correction of the chi-square test when more than 20% of the cells had an expected count of less than 5. Results During the study period, 53 patients diagnosed with eclampsia were treated and followed up to 6 weeks postpartum. There was zero maternal mortality; however, perinatal mortality was reported in 9.4%. Parity was statistically associated with an increased odds of adverse perinatal outcomes (p = 0.004, OR = 9.1, 95% CI = 2.0-40.8) and caesarean delivery (p = 0.020, OR = 4.7, 95% CI = 1.3–17.1). In addition, the induction of labour decreased the risk of adverse outcomes (p = 0.232, OR = 0.3, 95% CI = 0.1-2.0). Conclusion There is no benefit of emergency caesarean section for women with eclampsia. Instead, it increases the risk of perinatal adverse outcomes, including the risk of admission to the newborn unit and perinatal death.

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COVID-19 and Adverse Pregnancy Outcome: A Systematic Review of 104 Cases

Journal of Clinical Medicine ◽

10.3390/jcm9113441 ◽

2020 ◽

Vol 9 (11) ◽

pp. 3441

Author(s):

Ramy Abou Ghayda ◽

Han Li ◽

Keum Hwa Lee ◽

Hee Won Lee ◽

Sung Hwi Hong ◽

...

Keyword(s):

Systematic Review ◽

Pregnant Women ◽

Pregnancy Outcomes ◽

Adverse Pregnancy Outcome ◽

Mode Of Delivery ◽

Maternal Mortality Ratio ◽

Case Series ◽

Neonatal Outcomes ◽

Treatment Modalities ◽

Adverse Pregnancy

(1) Background: Until now, several reports about pregnant women with confirmed coronavirus disease 2019 (COVID-19) have been published. However, there are no comprehensive systematic reviews collecting all case series studies on data regarding adverse pregnancy outcomes, especially association with treatment modalities. (2) Objective: We aimed to synthesize the most up-to-date and relevant available evidence on the outcomes of pregnant women with laboratory-confirmed infection with COVID-19. (3) Methods: PubMed, Scopus, MEDLINE, Google scholar, and Embase were explored for studies and papers regarding pregnant women with COVID-19, including obstetrical, perinatal, and neonatal outcomes and complications published from 1 January 2020 to 4 May 2020. Systematic review and search of the published literature was done using the Preferred Reporting Items for Systematic Review and Meta-Analyses (PRISMA). (4) Results: In total, 11 case series studies comprising 104 pregnant women with COVID-19 were included in our review. Fever (58.6%) and cough (30.7%) were the most common symptoms. Other symptoms included dyspnea (14.4%), chest discomfort (3.9%), sputum production (1.0%), sore throat (2.9%), and nasal obstruction (1.0%). Fifty-two patients (50.0%) eventually demonstrated abnormal chest CT, and of those with ground glass opacity (GGO), 23 (22.1%) were bilateral and 10 (9.6%) were unilateral. The most common treatment for COVID-19 was administration of antibiotics (25.9%) followed by antivirals (17.3%). Cesarean section was the mode of delivery for half of the women (50.0%), although no information was available for 28.8% of the cases. Regarding obstetrical and neonatal outcomes, fetal distress (13.5%), pre-labor rupture of membranes (9.6%), prematurity (8.7%), fetal death (4.8%), and abortion (2.9%) were reported. There are no positive results of neonatal infection by RT-PCR. (5) Conclusions: Although we have found that pregnancy with COVID-19 has significantly higher maternal mortality ratio compared to that of pregnancy without the disease, the evidence is too weak to state that COVID-19 results in poorer maternal outcome due to multiple factors. The number of COVID-19 pregnancy outcomes was not large enough to draw a conclusion and long-term outcomes are yet to be determined as the pandemic is still unfolding. Active and intensive follow-up is needed in order to provide robust data for future studies.

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P.101 Conservative management of meningiomas with a moderate to high peritumoral brain edema index: a single-institution report

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ◽

10.1017/cjn.2019.195 ◽

2019 ◽

Vol 46 (s1) ◽

pp. S40

Author(s):

H Yan ◽

B Karmur ◽

D Jeong ◽

M Bernstein

Keyword(s):

Brain Edema ◽

Medical Management ◽

Case Series ◽

Imaging Features ◽

Retrospective Case ◽

Patient Morbidity ◽

Large Spread ◽

Peritumoral Brain Edema ◽

Mri Scans

Background: Meningiomas are the most commonly occurring benign intracranial tumors. When presenting with peritumoral brain edema (PTBE), surgical treatment can lead to patient morbidity. This retrospective case series aims to describe the conservative medical management of moderate to large meningiomas with large PTBE. Methods: Patients with suspected meningiomas greater than 2.0cm and edema index greater than 2.0 were identified by screening 3345 MRI scans between 2012-2017. Imaging analysis included MR imaging features of suspected meningiomas and clinical data was gathered from the electronic patient record (patient age, sex, patient symptoms, follow-up duration, and follow-up symptoms). Results: We report on 31 patients who received conservative medical management. Presenting complaints included headache, seizure, weakness; many presented asymptomatically. The average follow-up time was 3.96 years. At the final follow-up appointment, 19 (61%) patients were asymptomatic. Among symptomatic patients, seizures were the most common complaint. There was no mortality reported in our cohort and the average tumor progression was 7.04cm3/year. Conclusions: In this retrospective report of meningioma patients with high edema index, we found that most patients remained asymptomatic or had stable symptoms after at least 1-yr follow up after medical treatment. This study provides insight around the surgical decision-making for meningiomas with large spread of edema.

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Clinical Features and Outcome of SARS-CoV-2 Infection in Neonates: A Systematic Review

Journal of Tropical Pediatrics ◽

10.1093/tropej/fmaa059 ◽

2020 ◽

Cited By ~ 2

Author(s):

Shashi Kant Dhir ◽

Jogender Kumar ◽

Jitendra Meena ◽

Praveen Kumar

Keyword(s):

Caesarean Section ◽

Clinical Features ◽

Search Strategy ◽

Web Of Science ◽

Case Reports ◽

Mode Of Delivery ◽

Case Series ◽

Congenital Infection ◽

Modes Of Transmission ◽

Mesh Terms

Abstract Objective The objective of this study is to systematically synthesize the currently available literature on various modes of transmission (congenital, intrapartum, and postpartum), clinical features and outcomes of SARS-CoV-2 infection in neonates. Methods We conducted a comprehensive literature search using PubMed, EMBASE, and Web of Science until 9 June 2020. A combination of keywords and MeSH terms, such as COVID-19, coronavirus, SARS-CoV-2, 2019-nCoV, severe acute respiratory syndrome coronavirus 2, neonates, newborn, infant, pregnancy, obstetrics, vertical transmission, maternal–foetal transmission and intrauterine transmission, were used in the search strategy. We included studies reporting neonatal outcomes of SARS-CoV-2 proven pregnancies or neonatal cases diagnosed with SARS-CoV-2 infection. Results Eighty-six publications (45 case series and 41 case reports) were included in this review. Forty-five case series reported 1992 pregnant women, of which 1125 (56.5%) gave birth to 1141 neonates. A total of 281 (25%) neonates were preterm, and caesarean section (66%) was the preferred mode of delivery. Forty-one case reports describe 43 mother-baby dyads of which 16 were preterm, 9 were low birth weight and 27 were born by caesarean section. Overall, 58 neonates were reported with SARS-CoV-2 infection (4 had a congenital infection), of which 29 (50%) were symptomatic (23 required ICU) with respiratory symptoms being the predominant manifestation (70%). No mortality was reported in SARS-CoV-2-positive neonates. Conclusion The limited low-quality evidence suggests that the risk of SARS-CoV-2 infections in neonates is extremely low. Unlike children, most COVID-positive neonates were symptomatic and required intensive care. Postpartum acquisition was the commonest mode of infection in neonates, although a few cases of congenital infection have also been reported.

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P22 Using an elastomeric pump to administer continuous infusions of antibiotics as part of an outpatient parenteral antimicrobial therapy (opat) programme

Archives of Disease in Childhood ◽

10.1136/archdischild-2017-314585.31 ◽

2018 ◽

Vol 103 (2) ◽

pp. e2.25-e2

Author(s):

David Sharpe ◽

Claire Crouch ◽

David Porter ◽

Stephane Paulus

Keyword(s):

Respiratory Tract ◽

Central Venous Access ◽

Good Practice ◽

Mode Of Delivery ◽

Case Series ◽

British Society ◽

List Type ◽

Retrospective Case ◽

Outpatient Parenteral Antimicrobial Therapy ◽

Tract Infections

AimsContinuous intravenous infusion using an elastomeric pump is an alternative delivery method in paediatric patients who need intravenous antibiotics (IVAB) which would otherwise need to be administered three times daily, such as piperacillin/tazobactam or ceftazidime.1 We describe our experience using elastomeric pumps in the OPAT setting.MethodsA retrospective case series of 5 children (aged 5–17 years) discharged home on IVAB continuous infusion administered via an elastomeric pump. One child received this mode of delivery twice therefore 6 patient-episodes are described in this case series. Outcomes were assessed using the BSAC p-OPAT (British Society of Antimicrobial Chemotherapy Paediatric-OPAT) criteria. Ethics approval was not required because the information was gathered retrospectively and patient data has been anonymised.ResultsIn 5 of the episodes the indication was lower respiratory tract infection treated with continuous IV piperacillin/tazobactam. All patients had a background of neurodisability, recurrent respiratory tract infections and Pseudomonas aeruginosa carriage. The remaining patient was treated for an infective exacerbation of cystic fibrosis with a regimen that included continuous IV ceftazidime. All episodes had an outcome defined as ‘Success’ according to the BSAC p-OPAT criteria; having an infection outcome of ‘improved’ or ‘cured’ with no adverse events reported.ConclusionsThe successful outcomes in this case series suggest that elastomeric pumps are a safe and effective option for administering selected antibiotics by continuous IV infusion to children, although central venous access is a requirement. This option should be considered to facilitate the early discharge of patients to be treated with IVAB such as piperacillin/tazobactam under the guidance of an OPAT service.ReferencePatel S, Abrahamson E, Goldring S, Green H, Wickens H, Laundy M. Good practice recommendations for paediatric outpatient parenteral antibiotic therapy (p-OPAT) in the UK: A consensus statement. J Antimicrob Chemother2015;70(2):360–73.

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Anticoagulation regimens during pregnancy in patients with mechanical heart valves: a protocol for a systematic review and network meta-analysis

BMJ Open ◽

10.1136/bmjopen-2019-033917 ◽

2020 ◽

Vol 10 (2) ◽

pp. e033917 ◽

Cited By ~ 1

Author(s):

Shiwei He ◽

Yue Zou ◽

Juan Li ◽

Jumei Liu ◽

Li Zhao ◽

...

Keyword(s):

Heart Valves ◽

Meta Analysis ◽

Mode Of Delivery ◽

Experimental Studies ◽

Case Series ◽

Mechanical Heart Valves ◽

Case Control Studies ◽

Clinical Trial Registry ◽

Maternal Complications ◽

Patient Consent

IntroductionPregnancy in patients with mechanical heart valves (MHVs) is associated with high maternal complications and fetal complications.Anticoagulation treatments serve to decrease their venous clotting risk. Although some anticoagulation regimens have been used for patients during pregnancy with MHVs, no one is definitively superior among different regimens in recent studies. For a better understanding of the clinical treatment which anticoagulation regimen is more effective and safer during the pregnancy in patients with MHVs, a Bayesian network meta-analysis is necessary.Methods and analysisThis protocol has been reported according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Protocols. Related studies until April 2019 will be searched in the following databases: PubMed, Embase,SinoMed and the using the OVID interface to search for evidence-based medicine reviews. A clinical trial registry (www.ClinicalTrials.gov) was also searched for unpublished trials. Both experimental studies (randomised clinical trials) and observational studies (cohort studies, case–control studies and case series studies) will be included in this study. Quality assessment will be conducted using Cochrane Collaboration’s tool or Newcastle-Ottawa Scale based on their study designs. The primary outcomes of interest will be the frequencies of serious maternal and fetal events. The additional outcomes of interest will be adverse maternal events, mode of delivery and adverse fetal events. Pairwise and network meta-analysis will be conducted using R (V.3.4.4, R Foundation for Statistical Computing, Vienna, Austria) and Stata (V.14, StataCorp). The ranking probabilities will be estimated at each possible rank for each anticoagulation regimen using the surface under the cumulative ranking curve. Statistical inconsistency assessment, subgroup analysis, sensitivity analysis and publication bias assessment will be performed.Ethics and disseminationEither ethics approval or patient consent is not necessary, because this study will be based on literature. The results of this study will be published in a peer-reviewed journal.PROSPERO registration numberCRD42019130659

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Apert Syndrome (Acrocephalosyndactyly): A Rare Syndromic Craniosynostosis

Journal of Nepal Paediatric Society ◽

10.3126/jnps.v29i2.2046 ◽

2009 ◽

Vol 29 (2) ◽

pp. 92-93 ◽

Cited By ~ 2

Author(s):

Mahesh Shrestha ◽

Neelam Adhikari ◽

Ganesh Shah

Keyword(s):

Premature Infant ◽

Key Words ◽

Apert Syndrome ◽

Syndromic Craniosynostosis ◽

First Case

We report a premature infant who had multisutural craniosynostosis with pointed head, syndactyly of 2nd, 3rd and 4th fingers of all four limbs and other findings that were consistent with Apert syndrome. This is perhaps the first case of Apert Syndrome reported from Nepal. Key words: Apert syndrome, craniosynostosis, syndactyly doi: 10.3126/jnps.v29i2.2046 J. Nepal Paediatr. Soc. Vol 29, No. 2, pp.92-93

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