bluuebunny/crossref_metadata_2025_split huggingface dataset:
New ZNF469 Mutations in Spanish Siblings With Brittle Cornea Syndrome
Authors: García de Oteyza Gonzalo , Fernández Engroba Jorge , Charoenrook Victor 
Published: April 2023

Purpose:
The aim of this study was to describe the clinical, tomographic, and genetic findings of 2 Spanish siblings with brittle cornea syndrome and report a new mutation of gene ZNF469 implicated in the development of this disorder.

Methods:
In this study, 2 male siblings who had been diagnosed with brittle cornea syndrome underwent ophthalmologic and genetic assessment.

Results:
A novel homozygous deletion c.2972del, p.(Pro991Hisfs62) in the ZNF469 gene was identified in a Spanish family.

Conclusions:
This is the first report of a ZNF469 mutation in a Spanish family causing brittle cornea syndrome. The discovery of this new mutation amplifies the spectrum of ZNF469 variants implicated in this syndrome.
Clinical applications of bioengineered tissue-cellular products for management of corneal diseases
Authors: Tran Tu M. , Hou Joshua H. 
Published: April 2023

Purpose of review
To discuss bioengineered tissue-cellular products for treatment of corneal diseases that are currently in clinical use. These include tissue-cellular products that have received regulatory approval, are being used off-label in clinical practice, or are in active use in clinical trials.

Recent findings
Due to the global shortage of donor corneal tissue, significant efforts have been made to develop bioengineering tissue-cellular products that can replace or augment the use of cadaveric tissue for corneal transplantation. The development of carrier substrates to support transplantation of cultivated limbal epithelial transplantation (CLET) has been a growing area of research. CLET offers a promising therapeutic alternative to conventional simple limbal epithelial transplantation and keratolimbal allografts for treatment of limbal stem cell deficiency. Engineered tissue matrices and porcine-derived corneas are potential alternatives to human donor tissue in anterior lamellar keratoplasty for corneal ulcers and scars, as well as intrastromal transplants for advanced keratoconus. For endothelial disease, substrate supported cultured endothelial cell grafts, and synthetic barrier devices are promising alternative to traditional endothelial keratoplasties.

Summary
There has been increasing interest in cellular and acellular bioengineered tissue-cellular and synthetic products for treatment of corneal diseases, and many of these products have already seen clinical use. Industry and academia have important roles in advancing these products to later phase clinical trials and comparing them to conventional allograft approaches. Future development of full thickness donor corneas with cultivated epithelium, endothelium, and stromal keratocytes in a biosynthetic matrix will likely be an important next step in tissue alternatives. Continued progress in this field will be critical for addressing the global disease burden from corneal blindness.
Expanding indications for corneal cross-linking
Authors: Hafezi Farhad , Torres-Netto Emilio A. , Hillen Mark 
Published: April 2023

Purpose of review
The aim of this study was to summarize the recent developments in corneal cross-linking (CXL) and its indications, including corneal ectasias, refractive surgery and infectious keratitis.

Recent findings
Advances in CXL technology, such as the use of higher-intensity LED ultraviolet (UV) light sources and a better understanding of the UV-riboflavin photochemical reaction, have enabled safer and more effective methods of cross-linking thin and ultra-thin corneas, and more effective accelerated transepithelial/‘epi-on’ CXL procedures that are beginning to supplant the Dresden protocol as the ‘gold standard’ CXL method. CXL is also being used in combination with laser surgery, not only to expand the patient base who can receive refractive surgery, but also to help rehabilitate vision in patients with ectasia. CXL, and CXL combined with photorefractive keratectomy (PRK), can result in corneal flattening of 1–2 D, and corneal regularization of 4–5 D, respectively. Finally, photoactivated chromophore for keratitis-corneal cross-linking (PACK-CXL) has been shown to be an effective therapy for infectious keratitis, both alone, and in combination with antimicrobial drugs.

Summary
CXL has evolved from a single technique to treat a single corneal ectasia, keratoconus, to several techniques with several indications, spanning a spectrum of corneal ectasias, as well as visual rehabilitation, refractive procedures and infectious keratitis treatment.
Influence and predictive value of optional parameters in new-generation intraocular lens formulas
Authors: Wendelstein Jascha A. , Rothbächer Jan , Heath Michael , McDonald Michael C. , Hoffmann Peter C. , Cooke David L. , Seiler Theo G. , Langenbucher Achim , Riaz Kamran M. 
Published: April 2023

Purpose:
To evaluate the accuracy of various variations of new-generation multivariate intraocular lens (IOL) power calculation using the Barrett Universal II, Castrop, Emmetropia Verifying Optical 2.0, Hill–Radial Basis Function 3.0, Kane, and PEARL-DGS formulas with and without optional biometric parameters.

Setting:
Tertiary care academic medical center.

Design:
Retrospective case series. Single-center study.

Methods:
Inclusion of patients after uneventful cataract surgery implanting AU00T0 IOLs. Data from one eye per patient were randomly included. Eyes with a corrected distance visual acuity worse than 0.1 logMAR were excluded. IOLCON-optimized constants were used for all formulas other than the Castrop formula. The outcome measures were prediction error (PE) and absolute prediction error (absPE) for the 6 study formulas.

Results:
251 eyes from 251 patients were assessed. Excluding lens thickness led to statistically significant differences in absPE in several formulas. Leaving out horizontal corneal diameter did not impact absPE in several formulas. Differences in PE offset were observed between the various formula variations.

Conclusions:
When using multivariate formulas with an A-constant, including certain optional parameters is vital for optimal refractive results. Formula variations excluding certain biometric parameters need specifically optimized constants and do not perform similarly when using the constant of the respective formula using all parameters.
Patient demographics, tumor characteristics, and outcomes following surgical treatment of benign and malignant brachial plexus tumors: a systematic review
Authors: Shekouhi Ramin , Chim Harvey 
Published: April 2023

Background:
Various treatment options have been introduced for the management of primary tumors of the brachial plexus (BP), ranging from conservative therapy to wide local excision with/without postoperative chemoradiotherapy. However, no consensus exists regarding optimal treatment strategies based on collated and published data.

Objective:
The aim of this study was to investigate the clinicopathological characteristics and outcome of patients with primary tumors of the BP who underwent surgical treatment.

Data sources:
A systematic search of the four main online databases, including Web of Science (WOS), PubMed, Scopus, and Google Scholar, was conducted.

Study selection:
All related articles addressing the clinical outcome and role of surgical interventions for management of primary tumors of the BP.

Intervention:
Optimal surgical and radiotherapeutic interventions for benign and malignant lesions based on the pathologic characteristics and location of primary BP tumors.

Results:
A total of 687 patients (693 tumors) with a mean age of 41.7±8.7 years old were evaluated. In total, 629 (90.8%) tumors were benign, and 64 (9.2%) were malignant, with a mean tumor size of 5.4±3.1 cm. The location of the tumor was reported for 639 patients. For these tumors, 444 (69.5%) originated from the supraclavicular region, and 195 (30.5%) were infraclavicular. The trunks were the most common location for tumor involvement, followed by the roots, cords, and terminal branches. Gross total resection was achieved in 432 patients and subtotal resection (STR) was performed in 109 patients. With neurofibromas, STR still resulted in good outcomes. The outcomes following treatment of malignant peripheral nerve sheath tumors were poor regardless of the type of resection. In general, symptoms related to pain and sensory issues resolved rapidly postoperatively. However, the resolution of motor deficits was often incomplete. Local tumor recurrence occurred in 15 (2.2%), patients and distant metastasis was observed in only eight (1.2%) cases. The overall mortality was 21 (3.1%) patients among the study population.

Limitations:
The main limitation was the lack of level I and II evidence.

Conclusions:
The ideal management strategy for primary BP tumors is complete surgical resection. However, in some cases, particularly for neurofibromas, STR may be preferable to preserve maximal neurological function. The degree of surgical excision (total or subtotal) mainly depends on the pathological characteristics and primary location of the tumor.
Comparison between minimally invasive partial nephrectomy and open partial nephrectomy for complex renal tumors: a systematic review and meta-analysis
Authors: Li Kun-peng , Chen Si-yu , Wang Chen-yang , Yang Li 
Published: April 2023

Background:
The present study aimed to conduct a pooled analysis to compare the efficacy and safety of minimally invasive partial nephrectomy (MIPN) with open partial nephrectomy (OPN) in patients with complex renal tumors (defined as PADUA or RENAL score ≥7).

Methods:
The present study followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement, Supplemental Digital Content 1, http://links.lww.com/JS9/A394. We conducted a systematic search of the PubMed, Embase, Web of Science, and Cochrane Library databases until October 2022. MIPN and OPN-controlled trials for complex renal tumors were included. The primary outcomes were perioperative results, complications, renal function, and oncologic outcomes.

Results:
A total of 2405 patients were included in 13 studies. MIPN outperformed OPN in terms of hospital stay [weighted mean difference (WMD) −1.84 days, 95% CI −2.35 to −1.33; P<0.00001], blood loss (WMD −52.42 ml, 95% CI −71.43 to −33.41; P<0.00001), transfusion rates [odds ratio (OR) 0.34, 95% CI 0.17–0.67; P=0.002], major complications (OR 0.59, 95% CI 0.40–0.86; P=0.007) and overall complications (OR 0.43, 95% CI 0.31–0.59; P<0.0001), while operative time, warm ischemia time, conversion to radical nephrectomy rates, estimated glomerular decline, positive surgical margins, local recurrence, overall survival, recurrence-free survival, and cancer-specific survival were not significantly different.

Conclusions:
The present study demonstrated that MIPN was associated with a shorter length of hospital stay, less blood loss, and fewer complications in treating complex renal tumors. MIPN may be considered a better treatment for patients with complex tumors when technically feasible.
Interaction of exercise and meal timing on blood glucose concentrations
Authors: Boulé Normand G. , Rees Jordan L. 
Published: April 2023

Purpose of review
Exercise and diet are among the most studied behaviors that can affect blood glucose concentrations. Despite multiple studies examining these interventions in different populations and contexts, inconsistencies across studies have led to variable expectations. The purpose of this review is to more specifically examine how the timing of when exercise is performed in relation to meals can modify changes in glucose concentrations or insulin sensitivity. When possible, studies in type 2 diabetes are emphasized, but recent research in type 1 diabetes, obesity, and athletes is also considered.

Recent findings
The effect of a single bout of exercise performed after an overnight fast is often comparable to that of postprandial exercise on 24 h mean glucose concentrations. However, there is recent evidence to suggest that in some situations, but not all, longer term metabolic adaptations can be more favorable when exercise is regularly performed in the fasted state.

Summary
Exercise after an overnight fast can have different effects on glucose metabolism compared with postprandial exercise. The shorter term and longer term changes following fasting exercise can be relevant to those who are seeking greater glucoregulatory benefit from their exercise sessions, such as people with diabetes.
New approaches to diet therapy for eosinophilic esophagitis
Authors: Molina-Infante Javier , Mata-Romero Pilar , Martín-Holgado Daniel 
Published: April 2023

Purpose of review
An empiric step-up (2–4–6) elimination diet remains the most common dietary approach in clinical practice when treating eosinophilic esophagitis (EoE). However, research in this field has fallen behind pharmacological therapy. This review aims to summarize novel approaches to dietary therapy for EoE.

Recent findings
A first prospective multicenter study in 41 pediatric patients (mean age 9 years) has evaluated the efficacy of a cow's milk elimination diet. This dietary approach led to histological remission in 51% of patients, albeit a caveat is that up to 80% of patients were receiving concomitant therapy with proton pump inhibitors. In a series of 18 adult patients with documented milk-induced EoE, ingestión of 400 ml of sterilized milk (boiled for up to 20 min) daily for 8 weeks did not induce histologic relapse in two-thirds of patients.

Summary
Milk elimination diet is effective in one-half of pediatric EoE patients and should likely be the first choice in children with EoE (within a step-up dietary approach). Promising data on tolerance of sterilized milk in adults with milk-induced EoE (66%) merit further replication in children, which may radically improve quality of life for patients and their caregivers.
A New Perspective on the Pathogenesis of Infantile Colic: Is Infantile Colic a Biorhythm Disorder?
Authors: Ucuncu Egeli Tugba , Tufekci Kemal Ugur , Ural Cemre , Durur Devrim Yagmur , Tuzun Erdogan Funda , Cavdar Zahide , Genc Sermin , Keskinoglu Pembe , Duman Nuray , Ozkan Hasan 
Published: April 2023

Objectives:
In this study, we investigated the relationship between infantile colic, migraine, and biorhythm regulation, by evaluating biochemical and molecular parameters.

Study Design:
Healthy infants with and without infantile colic were eligible for this prospective cohort study. A questionnaire was applied. Between the 6th and 8th postnatal weeks, day and night circadian histone gene H3f3b mRNA expression and spot urine excretion of serotonin, cortisol, and 6-sulphatoxymelatonin were analyzed.

Results:
Among the 95 infants included, 49 were diagnosed with infantile colic. In the colic group, defecation difficulty, sensitivity to light/sound, and maternal migraine frequency increased and sleep disruption was typical. In the melatonin analysis, the difference between day and night levels was significant in the control group, indicating an established circadian rhythm (P = 0.014). In the colic group, there was no day-night difference (P = 0.216) in melatonin, but serotonin levels were higher at night. In the cortisol analysis, day-night values were similar in both groups. Day-night variability of H3f3b mRNA levels between the groups was significant, indicating circadian rhythm disturbance in the colic group compared to the control group (P = 0.003). Fluctuations in circadian genes and hormones expected in healthy rhythm were revealed in the control group, but were missing in the colic group.

Conclusion:
Due to the gaps in the etipathogenesis in infantile colic, a unique effective agent has not been discovered so far. This study, which demonstrated for the first time that infantile colic is a biorhythm disorder using molecular methods, fills the gap in this regard and points to a completely different perspective in terms of treatment.
Management Strategies for Geriatric Maxillofacial Fractures
Authors: Luo Guan-Jie , Chou Pang-Yun , Chen Chih-Hao 
Published: April 2023

Background
Geriatric maxillofacial trauma has become an increasingly pressing clinical issue in Taiwan because of increased life expectancy.

Aim and Objectives
The purposes of this study were to investigate the anthropometric changes and the posttrauma outcomes in the aging population and to optimize the management strategies for geriatric facial fractures.

Materials and Methods
From 2015 to 2020, a total of 30 patients 65 years or older were identified to have suffered from maxillofacial fractures and presented at the emergency department of the Chang Gung Memorial Hospital (CGMH). These patients were categorized into group III, representing the elderly group. Two other groups (group I, age 18–40 years; group II, age 41–64 years) of patients were categorized based on their age. After applying propensity score matching to reduce bias caused by a large case number difference, patient demographics, anthropometric data, and management methods were compared and analyzed.

Results
Among 30 patients 65 years or older who met the inclusion criteria, the mean age of the matched group III was 77.31 ± 14.87 years, and the mean number of retained teeth was 11.77 (range, 3–20 teeth). The elderly patients had a significantly lower number of retained teeth (group I vs group II vs group III, 27.3 vs 25.23 vs 11.77; P < 0.001). Anthropometric data showed that facial bone structure degenerated significantly with advancing age. Outcome analysis demonstrated that falls accounted for 43.3% of injury mechanisms in the elderly group, followed by motorcycle accidents (30%) and car accidents (23.3%). Nineteen elderly patients (63%) received nonsurgical management. On the other hand, 86.7% of cases in the other 2 age groups underwent surgery. The average numbers of total hospital and intensive care unit stays in group III patients were 16.9 (range, 3–49 days) and 4.57 (range, 0–47 days), which was significantly longer than the other 2 age groups.

Conclusions
Our results suggested that not only surgery is feasible for elderly patients with facial fractures, but an acceptable result is often obtainable. However, an eventful course, including extended hospital/intensive care unit stays and an increased risk of associated injuries and complications, may be expected.
Congenital Heart Disease: Assessing Viral Etiology in infants attending at a tertiary care hospital
Authors: Mehreen Syeda Fakiha , Srinath Mote , Sultana Waseema , Rani Vannavada Sudha 
Published: April 2023

ABSTRACTBackgroundCongenital heart disease (CHD) is the commonest birth defect worldwide, affecting millions of newborns every year. Limited information is available regarding risk factors for its causation.ObjectivesThis study was planned with an aim to determine the viral etiology in infants with congenital heart disease. Although a number of viruses diseases have been etiologically linked to congenital defects, only two viruses namely rubella virus and cytomegalovirus are definitely proved to be associated with anomalies in infants.Materials and MethodsThis Prospective study was conducted at a paediatric tertiary care hospital for a period of 6 months. Hundred (100) Infants with structural Congenital heart defects (CHD) based on Echocardiography findings were included in the study after taking informed consent from their mothers. Serum samples were collected and sent to Virology lab. The samples were tested for Rubella and Cytomegalovirus IgM antibodies using Enzyme Linked Immunosorbent Assay (ELISA).ResultsOut of 100 infants with congenital heart defects, (M: F:56:44) 4% were seropositive for rubella IgM antibodies whereas 20% showed seropositivity of Cytomegalovirus IgM antibodies. Median age of infants was 25 days. The most common congenital heart defect in Rubella positive infants was Patent ductus arteriosus followed by Atrial septal defect whereas it was Patent ductus arteriosus only in CMV positive infants followed by Patent Foramen ovale. 6% of infants died and among them 50% had infection with CMV while 11% showed infection with Rubella.ConclusionRegular screening by TORCH (Toxoplasmosis, Rubella, Cytomegalovirus, HSV) panel testing of mothers in first trimester is necessary for early detection. Early vaccination strategies should be implemented. Rapid and correct diagnosis of congenital CMV and Rubella infections in infants is very important for the correct therapy selection and proper management of the cases.
Florida Doulas’ Perspectives on their Role in Reducing Maternal Morbidity and Health Disparities
Authors: Applequist Janelle , Wilson Roneé , Perkins Megan , Williams Charlette , Joglekar Ria , Powis Richard , Daniel Angela , Louis-Jacques Adetola F. 
Published: April 2023

AbstractIntroductionMaternal mortality rates continue to rise in the United States. Considerable racial disparities exist, as Black women are 2-3 times more likely to die from pregnancy-related complications than White women. Doulas have been associated with improved maternal outcomes. This study aimed to 1) investigate Florida doulas’ perspectives on severe maternal morbidity/mortality, related inequities, and their influence on these areas as well as 2) identify opportunities for actionable change.MethodsThis qualitative study included seven online, in-depth interviews and seven focus groups with doulas (n= 31) in the state of Florida. Interview and focus group guides aimed to investigate how doulas perceive their role in the context of a) maternal morbidity and b) health disparities/inequities.ResultsDoulas associated maternal morbidity and health disparities with Black pregnant people, attributing racism as a major contributor. Doulas identified their role in mitigating this problem as one that involves: providing positive social surveillance and emotional support, equipping clients with access to education and resources, and championing for advocacy in healthcare settings. Actionable steps utilizing the social ecological model and reproductive justice framework are provided.Discussion and Health Equity ImplicationsDoulas perceived their role as integral to mitigating maternal morbidity and maternal health disparities, particularly in the context of race. Equitable access to doulas for low-income and or minoritized populations may be one key strategy to improve maternal health equity.