bluuebunny/crossref_metadata_2025_split huggingface dataset:
Cost Determinants of Mandibular Distraction Osteogenesis in Infants With Robin Sequence
Authors: Danis David O’Neil , Zaccardelli Alessandra , Singla Arnav K. , Meyer Aiden , Scott Andrew R. 
Published: February 2025

Background:
Robin sequence is an anomaly of micrognathia, glossoptosis, and airway obstruction. Mandibular distraction osteogenesis (MDO) performed in early infancy relieves airway obstruction and improves feeding difficulties. Though clinical outcomes data for MDO are strong, studies examining the cost drivers of the procedure are scarce.

Methods:
A retrospective 10-year single-institution chart review examined medical and billing records of infants undergoing MDO at an urban tertiary care center. Data included hospital charges, patient characteristics, comorbidities/complications, intubation duration, and length of stay (LOS). Multivariate regression analysis determined significant cost contributors over the course of admission. Conclusions from this smaller sample were compared with analyses from a larger, less detailed, population-based inpatient registry using the Kids’ Inpatient Database (2016 and 2019).

Results:
In the single-institution analysis, 29 cases were identified with a mean age of 12 days at hospital admission. Mean postoperative and overall LOS were 19 ± 10 and 31 ± 13 days, respectively. Mean total charges were $287K–$118K. The most significant driver of total charges was floor charges (P < 0.01). LOS was a proxy for floor charges, as they were highly correlated (r = 0.98). LOS was significantly driven by intubation duration (P = 0.01). In the nationwide analysis, 165 weighted cases were identified; mean age was 2 months at hospital admission. Mechanical ventilation >96 hours was associated with increased LOS and hospitalization costs.

Conclusions:
Of infants with Robin sequence undergoing MDO, the most significant driver of total charges was LOS. Intubation duration was highly associated with LOS.
Clinical Insights into a Large Cohort of Phakomatosis Pigmentovascularis
Authors: Kolipaka Gowri Pratinya , Molleti Deepthi , Krishnamurthy Rashmi , Rao Aparna , Mandal Anil K. , Senthil Sirisha 
Published: February 2025

Precis:
Phakomatosis pigmentovascularis, a multisystem disorder, exhibited male predominance, with Phakomatosis cesioflammea as the most prevalent type. Glaucoma affected 88% of eyes, with three-quarters requiring surgery. Systemic issues, notably epilepsy and anaemia, were prevalent in over half of all subjects.

Purpose:
To report the clinical profile and demographic characteristics of a large cohort with Phakomatosis pigmentovascularis (PPV).

Participants:
Included 119 eyes of 60 patients with PPV between January 1996 and January 2023 (27 y).

Methods:
This is a retrospective multi-centric study involving 4 tertiary network institutes in India. The diagnosis of PPV was established based on the concurrent presence of pigmentary nevi and capillary malformation, with classification conducted according to the Happle classification system. Demographic information, clinical features at the time of diagnosis (both ocular and systemic), the prevalence of glaucoma, details of management strategies employed, and the subsequent outcomes were meticulously documented.

Main Outcome Measures:
Key outcome measures included the prevalence of glaucoma among patients, the frequency of systemic abnormalities noted, and the various surgical interventions performed along with their respective success rates.

Results:
The cohort had male preponderance (male: female ratio of 67%:33%), with median age of presentation at 0.48 (range=0.12, 7.77) years. Glaucoma was observed in 105 eyes (88.2%), with bilateral involvement present in 75% of cases. The most prevalent phenotype observed within the cohort was Phakomatosis cesioflammea (Type iib), affecting 65% of patients. Systemic abnormalities were noted in 51.6% of cases, with epilepsy (45%) and anaemia (36%) being the most frequently documented conditions. Surgical intervention was required for 64.7% of eyes for intraocular pressure control, with combined trabeculotomy and trabeculectomy being the predominant procedure employed. Surgical success was noted in 87% of eyes, and 19.4% eyes had complications.

Conclusion:
Phakomatosis cesioflammea (Type iib) was the most common subgroup noted. Majority of patients had glaucoma, often bilateral, with two-thirds requiring surgical intervention for IOP control. Systemic abnormalities were common, emphasizing the need for comprehensive multisystem evaluation in these patients.
A Qualitative, Patient-led Exploration of Vaccination Communication Preferences Among a Diverse Sample of Pregnant, Postpartum, Breastfeeding Canadians
Authors: Castrellon Pardo Maria , Bruce Marcia , Surti Monica Santosh , Myers-Stewart Medea , Donald Maoliosa , Patey Andrea M. , Castillo Eliana 
Published: February 2025

Background:
Vaccination during pregnancy is recommended to protect pregnant individuals and their fetus from vaccine-preventable diseases and to protect infants during the vulnerable postnatal period. However, vaccine uptake in pregnancy remains low. This study explores how pregnant, postpartum and breastfeeding individuals living in Canada prefer to communicate about vaccination during pregnancy.

Methods:
We used peer-to-peer, patient-oriented research to conduct an exploratory qualitative descriptive study using focus groups and semistructured in-depth interviews to enquire about vaccination in pregnancy communication preferences, including preferred provider and communication timing. We coded deductively using direct content analysis and inductively while remaining sensitive to themes arising during the interviews.

Results:
Fourteen individuals from diverse cultural backgrounds living in Canada who self-identified as women and either as being pregnant, recently postpartum, or breastfeeding participated. Most preferred a participatory approach to vaccine communications combined with clear guidance. A trusted relationship with their provider mattered more than the healthcare provider’s profession. Participants wanted to discuss vaccines early and often to allow them time to find answers and discuss with their partners before making decisions. Participants also shared the importance of mutual respect, maintaining their autonomy and not feeling forced or coerced.

Conclusions:
Pregnant individuals want to play an active role in decision-making regarding vaccination during pregnancy. Their preference is to have open communication with familiar, trusted providers where they can express their questions and receive a clear recommendation which takes into consideration their unique circumstances so they can evaluate their options before making a decision.
DECIDE, A Pregnancy-specific Patient-provider Communication Approach: Multi-method and Codesign
Authors: Myers-Stewart Medea , Surti Monica Santosh , Kennedy Madison , Bruce Marcia , Castrellon Pardo Maria , Patey Andrea M. , Donald Maoliosa , Jamal Zaileen , Santana Maria J. , Castillo Eliana 
Published: February 2025

Background:
Vaccination in pregnancy is recommended for preventing maternal and infant morbidity, but uptake is low. Existing presumptive and participatory vaccine communication approaches for childhood vaccinations may not encompass the nuanced decision-making during pregnancy.

Methods:
We employed a multi-method study using the double diamond design framework to codesign a pregnancy-specific, person-centered communication approach. Key activities of each double diamond phase are listed below:

Discover: Conducted a scoping review, a survey assessing psychological antecedents of (n = 237) pregnant or lactating individuals, qualitative interviews with (n = 169) patients and (n = 47) healthcare providers (HCPs) and gathered insights through (n = 20) community outreach events to understand the problem.

Define: Synthesized findings through thematic analysis and key informant interviews, to validate our understanding of the problem.

Develop: Prototyped solutions through role-playing, iterative feedback with patient partners and HCPs, and qualitative inquiry into parental preferences.

Deliver: Finalized the communication approach after iterative usability testing with (n = 15) HCPs and feedback-driven refinement with (n = 9) patient partners.

Results:
We confirmed the need for a pregnancy-specific communication approach and identified key gaps. We then built a prototype where perinatal HCPs could use either a presumptive if acceptant or participatory if hesitant approach but questioned the applicability of vaccine hesitancy to pregnancy. We abandoned a solely presumptive approach given parental insights: it is normal to “question” during pregnancy and developed a balanced approach. The final DECIDE (determine, elicit, consent, interactive discussion, deliver, empower) communication approach balances shared decision-making with a clear recommendation. It addresses pregnant individuals’ desire for autonomy and support, and HCPs call for simple tools to improve their confidence and communication skills without alienating their patients.

Conclusion and Next Steps:
DECIDE is a pregnancy-specific vaccine communication approach potentially applicable to other interventions beyond vaccination.
Prevalence and Predictors of Adverse Birth Outcomes and Their Implications in Assessing the Safety of New Maternal Vaccines in Kenya
Authors: Nyiro Joyce U. , Bukusi Elizabeth , Mureithi Marianne W. , Walumbe David , Nyaguara Amek , Kipkoech Collins , Nyawanda Bryan , Bigogo Godfrey , Otieno Nancy , Aol George , Audi Allan , Murunga Nickson , Berkley James A. , Nokes D. James , Munywoki Patrick K. 
Published: February 2025

Background:
Successful introduction, high uptake and program effectiveness of new maternal vaccines aimed to prevent disease among infants require prior knowledge of their safety during pregnancy. We aimed to identify background adverse birth outcomes and their predictors in Kenya by which to aid future interpretation of outcomes for new maternal vaccination programs.

Methods:
A cross-sectional survey was conducted to assess birth outcomes from women residents within the health and demographic surveillance systems of Kilifi, Siaya and Nairobi, Kenya. All selected women had pregnancies registered in the years 2017–2020 through census rounds and had a birth outcome recorded by the time of data collection. They were traced at home for interviews and abstraction of birth outcome records from mother and child health booklets. Multivariable logistic regression was used to identify independent predictors of adverse birth outcomes.

Results:
A total of 2702 women were interviewed. Adverse birth outcomes occurred in 788/2702 (29.2%) of pregnancies: 433 (16.0%) were preterm (gestational age <37 weeks), 298 (11.0%) low birth weight (<2500 g), 99 (3.7%) macrosomic (>4000 g) and 41 (1.5%) stillbirths. Predictors of adverse birth outcomes were gestational diabetes [adjusted Odds Ratio (aOR): 3.32 (1.53–7.20)], malaria during pregnancy [aOR: 1.74 (1.23–2.48)], not attending antenatal care [aOR: 12.89 (2.17–76.68)] and home delivery [aOR: 1.58 (1.18–2.12)].

Conclusions:
In 3 Kenyan settings, almost a third of pregnancies had adverse birth outcomes. Recognizing this baseline prevalence and the factors associated with adverse birth outcomes will be important in validating the safety of new maternal vaccines.
Trends in Neonatal Vaccination: A Ten-year Retrospective Study in a Large Delivery Center
Authors: Mourão Maria Laura , Baca-Arzaga Adrian , Castellanos Marianna , Johnstone Rhys , Miedema David , Ozonoff Al , Odumade Oludare A. , Angelidou Asimenia 
Published: February 2025

Background:
Newborns are at increased risk of vaccine preventable morbidity and mortality. The American Academy of Pediatrics recommends administering the birth dose of the hepatitis B vaccine (HBV) between 0 and 30 days of life [based on birth weight (BW) < 2000 g vs. ≥ 2000 g], followed by several vaccines at 2 months of age (regardless of the BW) including the first dose of the pneumococcal vaccine (PCV). However, adherence to these guidelines is often suboptimal, resulting in incomplete or delayed vaccination.

Methods:
This is a 10-year retrospective, single-center observational study examining the rates and timeliness of HBV and PCV vaccination of infants admitted to the mother-baby unit and neonatal intensive care unit (NICU) from 2013 to 2023. Multinomial logistic regression was used to examine factors associated with vaccination status.

Results:
HBV vaccination of infants admitted to the neonatal intensive care unit (n = 4935) was significantly more likely to diverge from American Academy of Pediatrics recommendations versus HBV vaccination of infants admitted to the mother-baby unit (n = 49,857). Factors associated with higher relative risk of delayed HBV vaccination included administration in the pre-COVID prepandemic era, prematurity, BW ≥ 2000 g and Black/African American race, with the latter two also being associated with incomplete vaccination at discharge. For PCV, Hispanic patients were more likely to be discharged with incomplete vaccination compared with non-Hispanic patients.

Conclusions:
Postpandemic, there were lower rates of delayed vaccinations, possibly reflecting increased vaccine awareness among parents and providers. Preterm status was a key factor influencing HBV vaccination timeliness. Perceptions and attitudes toward early-life vaccination, including potential racial biases, should be examined as potential contributors to differing vaccine administration practices.
Vaccine Confidence During Pregnancy and the Impact of the COVID-19 Pandemic: A Wide Variety of Views Across the European Union
Authors: De Brabandere Larissa , Hanning Nikita , Hendrickx Greet , Van Damme Pierre , Maertens Kirsten 
Published: February 2025

Background:
There is a wide variety of vaccination programs during pregnancy implemented in different European Union (EU) countries. The recent coronavirus disease 2019 (COVID-19) pandemic emphasized the need for efficient interventions to increase vaccine confidence during pregnancy since pregnant women were less likely to accept COVID-19 vaccination compared with nonpregnant women. This survey investigated the influence of the COVID-19 pandemic on vaccine confidence during pregnancy in 11 European countries.

Methods:
An online survey with questions on maternal vaccine confidence was distributed in 10 EU countries between March 29 and April 6, 2022. Via convenience sampling, 25 eligible participants per country were recruited. Subsequently, the survey was distributed in Flanders (Belgium) between October 14 and 26, 2022, delivering 480 eligible respondents. All participants were either pregnant or gave birth in the last 2 years.

Results:
Across all countries, vaccine confidence during pregnancy was found to be lower than vaccine confidence in general. Safety concerns were indicated as the most important reason to refuse vaccination during pregnancy. Participants with higher education and who were above 30 years old showed more confidence toward vaccination during pregnancy. A total of 15% of the participants indicated that the COVID-19 pandemic negatively impacted their confidence toward vaccines.

Conclusions:
Vaccine confidence during pregnancy varies widely across the EU. However, across all surveyed countries, vaccine confidence during pregnancy is lower than vaccine confidence in general, and safety concerns appear to be the main driver of this. The COVID-19 pandemic negatively impacted the view on vaccination in a significant proportion of participants, indicating that vaccine implementation in a next pandemic should be tackled differently.
Heterologous Effects of Pertussis and Influenza Vaccines During Pregnancy on Maternal and Infant Innate Immune Responses: A Pilot Study
Authors: Islam Khaleda , Sancho-Shimizu Vanessa , Kampmann Beate , Diavatopoulos Dimitri , Holder Beth , Rice Thomas F. 
Published: February 2025

Background:
Research has demonstrated that some vaccines may have effects on the immune system beyond their intended targets. These heterologous effects of vaccination occur through reprogramming of innate immune cells, resulting in enhanced cytokine responses to unrelated pathogens and have been observed most evidently following Bacillus Calmette–Guérin vaccination. Pregnant women in the United Kingdom are offered influenza and acellular pertussis (Tdap) vaccines to protect the mother and infant, respectively, from infection. Little is known about the potential heterologous effects of vaccines given during pregnancy on the maternal and infant immune systems.

Objective:
To investigate heterologous innate immune responses in mothers and infants from pertussis-vaccinated and pertussis/influenza double-vaccinated pregnancies compared with unvaccinated pregnancies, in a pilot cohort.

Methods:
In this pilot study, samples collected as part of 2 maternal immunization studies were utilized. Maternal and cord peripheral blood mononuclear cells (PBMCs) were collected at birth from women who had received both Tdap and influenza vaccination, only the Tdap vaccine or no vaccines during pregnancy. To further investigate the effect of influenza vaccination alone, PBMCs were collected from nonpregnant women before and after seasonal influenza vaccination. PBMCs were incubated with pattern recognition receptor (PRR) ligands, vaccine adjuvants or CRM197 for 24 hours and cytokine responses were quantified in supernatants by enzyme-linked immunosorbent assay.

Results:
PBMC from women who received both Tdap and influenza vaccines had reduced IL-1β, IL-6 and IL-8 cytokine responses to PRR ligand stimulation, compared with those from women who received Tdap alone. Maternal vaccine status during pregnancy did not impact cytokine responses to PRR stimulation in cord PBMCs. Seasonal influenza vaccination did not alter cytokine responses to PRR ligands in nonpregnant women.

Conclusions:
Our pilot study suggests that PBMC from women receiving combined Tdap and influenza vaccination during pregnancy may have reduced in vitro cytokine responses to nonpertussis stimuli. Larger cohorts of mother-infant pairs need to be studied to confirm these findings, study the potential mechanisms and control for potential confounders.
Access to Ear and Hearing Care Globally: A Survey of Stakeholder Perceptions from the Lancet Commission on Global Hearing Loss
Authors: Patterson Rolvix H. , McMahon Catherine , Waterworth Chris , Morton Sarah , Platt Alyssa , Chadha Shelly , Xu Mary Jue , Der Carolina , Nakku Doreen , Seguya Amina , Frost Robert , Jaffer Ali , Robler Samantha Kleindienst , Emmett Susan D. 
Published: February 2025

Objective
Characterize global access to ear and hearing care (EHC) to inform future policy recommendations.

Study Design
Survey using convenience sampling.

Setting
Subjects were surveyed via contact lists of the World Health Organization, Global Otolaryngology–Head and Neck Surgery Initiative, and Global HEAR Collaborative.

Participants
Otolaryngologists, audiologists, other health care professionals, adults with hearing loss, parents/caregivers of children with hearing loss, and policymakers.

Intervention
None.

Main Outcome and Measure(s)
Responses to questions regarding EHC screening programs, workforce, supports, access to care, and government priority by World Bank income group.

Results
There were 125 included survey responses from EHC stakeholders representing 59 countries: 71% from low- and middle-income countries (LMICs) and 29% from high-income countries (HICs). Compared with respondents from LMICs, those from HICs more frequently indicated that their country had adequate numbers of ENTs, audiologists, SLPs, and EHC community health workers. This trend was consistent across questions regarding number of training programs for EHC workforce, presence of hearing screening programs, cost of hearing aids and cochlear implants, availability of EHC supports and services, affordability of EHC, government funding or investment, and inclusion of EHC in national health strategy.

Conclusion
Globally, EHC is limited by systems-level barriers that disproportionately affect LMICs. Urgent policy development and intervention is needed to eliminate these barriers and improve EHC around the world.
Gene Therapy for Hearing Loss: Which Genes Next?
Authors: Carlson Ryan J. , Taiber Shahar , Rubinstein Jay T. 
Published: February 2025

Introduction
Hearing loss is the most common sensory deficit in humans, and roughly half of childhood-onset sensorineural hearing loss is genetic. Advances in gene therapy techniques have led to the first clinical trials for OTOF-associated hearing loss DFNB9. Therapies for other hearing loss genes are in various stages of development, and therefore a comprehensive evaluation of potential candidate genes can help to prioritize and guide these efforts.

Methods
A list of 93 nonsyndromic hearing loss genes with consensus support was generated. Critical factors for evaluation were identified as gene size, timing of cochlear degradation, cell type(s) of primary expression, availability of mouse models and efficacy of adeno-associated virus experiments in those mice, and human hearing loss severity, onset, and prevalence. Each factor was addressed with gene-specific PubMed searches for applicable studies.

Results
Each gene was evaluated according to the above factors, with favorable results indicating the most promising candidates for gene therapy. Genes that satisfied all the above conditions included TMPRSS3, PCDH15, and TMC1. Other genes, such as LOXHD1 and MYO6, had not yet had gene replacement attempts in a mouse model but otherwise satisfied all conditions and were likewise identified as promising candidates.

Conclusion
Based on this analysis, hearing loss genes vary widely in terms of their favorability for treatment by gene therapy approaches. Targeting development efforts to promising candidates will ensure the highest likelihood of clinical success. Several genes were identified as appealing next targets, signaling an increasing role of gene therapies in hearing loss care moving forward.
Navigating variants of uncertain significance in genetic dyslipidemia: how to assess and counsel patients
Authors: Ison Hannah E. , Helm Benjamin , Kringlen Gabriel , Crawford Paul 
Published: February 2025

Purpose of review
Genetic testing has become an integral component of clinical care when an inherited condition is suspected. However, the interpretation of variants identified with this testing can be nuanced. Variants of uncertain significance (VUS) are variants for which there is not enough data currently available to determine if the variant is causal for disease (i.e. pathogenic) or is benign. VUS can exist on a spectrum with some leaning towards suspected pathogenicity and others leaning towards likely benign. Clinician understanding of variant interpretation can improve clinical care by providing more context around how suspicious a VUS is, determining whether additional steps should be taken to further evaluate the variant in question, and ensuring patient understanding of these results.

Recent findings
Research on this topic highlights the complexities around VUS interpretation and counseling. VUS are not static: interpretations of pathogenicity change as new information is uncovered.

Summary
This review aims to summarize this literature and provide insight into variant interpretation, practical steps clinicians can take to further assess a VUS, and considerations when counseling patients on these results.