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Neurological Sciences : Official... Sep 2023Mutations in FDXR gene, involved in mitochondrial pathway, cause a rare recessive neurological disorder with variable severity of phenotypes. The most common... (Review)
Review
BACKGROUND AND AIMS
Mutations in FDXR gene, involved in mitochondrial pathway, cause a rare recessive neurological disorder with variable severity of phenotypes. The most common presentation includes optic and/or auditory neuropathy, variably associated to developmental delay or regression, global hypotonia, pyramidal, cerebellar signs, and seizures. The review of clinical findings in previously described cases from literature reveals also a significant incidence of sensorimotor peripheral polyneuropathy (22.72%) and ataxia (43.18%). To date, 44 patients with FDXR mutations have been reported. We describe here on two new patients, siblings, who presented with a quite different phenotype compared to previously described patients.
METHODS
Clinical, neurophysiological, and genetic features of two siblings and a systematic literature review focused on the clinical spectrum of the disease are described.
RESULTS
Both patients presented with an acute-sub-acute onset of peripheral neuropathy and only in later stages of the disease developed the typical features of FDXR-associated disease.
INTERPRETATION
The peculiar clinical presentation at onset and the evolution of the disease in our patients and in some cases revised from the literature shed lights on a new possible phenotype of FDXR-associated disease: a peripheral neuropathy which can mimic an acute inflammatory disease.
Topics: Humans; Ataxia; Cerebellar Ataxia; Diagnosis, Differential; Mutation; Peripheral Nervous System Diseases; Phenotype; Ferredoxin-NADP Reductase
PubMed: 37046037
DOI: 10.1007/s10072-023-06790-0 -
Cureus Sep 2023A significant portion of the pediatric population is affected by allergy diseases, which have become a worldwide public health concern. Could maternal diet during... (Review)
Review
A significant portion of the pediatric population is affected by allergy diseases, which have become a worldwide public health concern. Could maternal diet during pregnancy or breastfeeding influence allergy outcomes in offspring? If this cause-and-effect relationship exists, it will be simpler to design prevention strategies to reduce the incidence of allergic disorders in children, reduce costs to the public health system and to parents, and improve the quality of life of allergic children and their parents. In this systematic review, we will visit the literature from January 2019 to December 2022 to see if any relationship was found between maternal nutrition and its consequences on children's allergy occurrence. We will focus only on food allergy and eczema outcomes in the offspring. Also, we will summarize what was found to be protective or nonprotective to better control the outcomes if applied in the future.
PubMed: 37842462
DOI: 10.7759/cureus.45114 -
Graefe's Archive For Clinical and... Aug 2023While typically affecting older adults and immunocompromised individuals, herpes zoster ophthalmicus (HZO) has been reported with varying manifestations and... (Review)
Review
PURPOSE
While typically affecting older adults and immunocompromised individuals, herpes zoster ophthalmicus (HZO) has been reported with varying manifestations and complications in children. In this review, we evaluate reported cases of pediatric HZO in the literature and discuss the epidemiology, risk factors, clinical presentation, treatment and outcomes.
METHODS
A literature search on PubMed, Scopus, and Web of Science databases was performed using the terms "pediatric herpes zoster ophthalmicus" and "herpes zoster ophthalmicus children." Publications that were not specific to HZO or pediatric populations were excluded, as were publications that were not available to review or not published in the English language.
RESULTS
Fifty-seven reports describing 130 cases of HZO or HZO-related complications were reviewed. Major risk factors for pediatric HZO included intrauterine exposure to varicella or primary varicella infection at a young age; HZO also occurred in patients who had received varicella vaccination. Both healthy and immunocompromised children were affected, with the majority of affected children being immunocompetent. The diagnosis of HZO is primarily clinical. Children appear to have good vision recovery and resolution of symptoms if they are treated promptly and if they adhere to treatment regimens, except for irreversible vision loss related to uncommon complications such as optic neuritis.
CONCLUSION
HZO occurs in both healthy and immunocompromised children. Recognizing this treatable condition is essential for reducing ocular and systemic morbidity. Long-term follow-up and assessments of the impact on health in adulthood are lacking. More systematic study is needed to determine the incidence of HZO in children and appropriate diagnostic and treatment protocols for the care of pediatric patients with HZO.
Topics: Humans; Child; Aged; Herpes Zoster Ophthalmicus; Chickenpox; Herpesvirus 3, Human; Incidence; Morbidity
PubMed: 36949170
DOI: 10.1007/s00417-023-06033-0 -
Journal of Clinical Medicine Apr 2024: Pediatric odontogenic sinusitis (PODS) is a rare condition with limited research on its clinical features, diagnostic criteria, and treatment options. The current... (Review)
Review
: Pediatric odontogenic sinusitis (PODS) is a rare condition with limited research on its clinical features, diagnostic criteria, and treatment options. The current guidelines on pediatric rhinosinusitis do not mention a possible dental origin of the disease. This systematic review aims to summarize and analyze the existing literature on PODS, focusing on epidemiology, etiology, diagnostic tools, complications, treatment options, and outcomes. : A systematic review was conducted following PRISMA reporting guidelines. Electronic searches were performed in multiple databases using keywords related to PODS and therapeutic strategies. Original articles reporting data on treatment outcomes for PODS were included. : The review highlighted the scarcity of high-quality evidence on PODS. The literature mainly consists of case reports and low-grade evidence studies. Limited data on the epidemiology, etiology, diagnostic tools, complications, and treatment outcomes of PODS in children are available. : Further research is needed to better understand the clinical features, diagnosis, and treatment of PODS in pediatric patients. High-quality studies are required to establish evidence-based guidelines for the management of this condition, especially given the apparently high rate of complications when compared to adult ODS.
PubMed: 38673488
DOI: 10.3390/jcm13082215 -
Cureus Nov 2023A review of the literature was made to find and choose research papers, on drugs (amiodarone and adenosine) used for managing supraventricular tachycardia (SVT) in... (Review)
Review
A review of the literature was made to find and choose research papers, on drugs (amiodarone and adenosine) used for managing supraventricular tachycardia (SVT) in children and infants (one hour to 17 years of age) with no structural heart disease by PRISMA guideline. Our team conducted an exhaustive systematic literature review (SLR), utilizing an extensive search methodology across recognized databases like PubMed, PubMed Central, Google Scholar, Web of Science, and The Cochrane Library. We included 10 scholarly articles that satisfied our rigorous selection criteria including systematic reviews/meta-analysis, and randomized control trials, shedding light on treatment with amiodarone and adenosine for SVT in pediatric patients. There is no first- or second-line treatment for SVT in pediatrics, and drug effectiveness can vary significantly between patients. Adenosine has a shorter half-life than other drugs, instead, it is safer and more valuable when an electrocardiogram is uncertain, it is recommended as an acute management, and it continues as the first-line option for paroxysmal SVT. Amiodarone management patients with acute STV within, its use showed better results when administered 48 hours after diagnosis. Furthermore, it is recommended to reduce the incidence of junctional ectopic tachycardia (JET), by pre-operative prophylaxis, also for chronic control in this and other types of SVT. In none of the evaluated studies were documented significant adverse effects in pediatric patients. Side effects that did occur were mild and easily managed. The studies also emphasize that although both amiodarone and adenosine can successfully convert SVT to sinus rhythm, better results have been observed when using combined therapies of each recommended medication. Therefore, more randomized clinical trials, meta-analyses, and systematic reviews are needed to solidify and possibly standardize an effective and safe pharmacological treatment for SVT and its types in pediatric patients.
PubMed: 38073952
DOI: 10.7759/cureus.48507 -
MedRxiv : the Preprint Server For... Sep 2023Beta-cell monogenic forms of diabetes are the area of diabetes care with the strongest support for precision medicine. We reviewed treatment of hyperglycemia in...
BACKGROUND
Beta-cell monogenic forms of diabetes are the area of diabetes care with the strongest support for precision medicine. We reviewed treatment of hyperglycemia in GCK-related hyperglycemia, HNF1A-HNF4A- and HNF1B-diabetes, Mitochondrial diabetes (MD) due to m.3243A>G variant, 6q24-transient neonatal diabetes (TND) and SLC19A2-diabetes.
METHODS
Systematic reviews with data from PubMed, MEDLINE and Embase were performed for the different subtypes. Individual and group level data was extracted for glycemic outcomes in individuals with genetically confirmed monogenic diabetes.
RESULTS
147 studies met inclusion criteria with only six experimental studies and the rest being single case reports or cohort studies. Most studies had moderate or serious risk of bias.For GCK-related hyperglycemia, six studies (N=35) showed no deterioration in HbA1c on discontinuing glucose lowering therapy. A randomized trial (n=18 per group) showed that sulfonylureas (SU) were more effective in HNF1A-diabetes than in type 2 diabetes, and cohort and case studies supported SU effectiveness in lowering HbA1c. Two crossover trials (n=15 and n=16) suggested glinides and GLP-1 receptor agonists might be used in place of SU. Evidence for HNF4A-diabetes was limited. While some patients with HNF1B-diabetes (n=301) and MD (n=250) were treated with oral agents, most were on insulin. There was some support for the use of oral agents after relapse in 6q24-TND, and for thiamine improving glycemic control and reducing insulin requirement in SLC19A2-diabetes (less than half achieved insulin-independency).
CONCLUSION
There is limited evidence to guide the treatment in monogenic diabetes with most studies being non-randomized and small. The data supports: no treatment in GCK-related hyperglycemia; SU for HNF1A-diabetes. Further evidence is needed to examine the optimum treatment in monogenic subtypes.
PubMed: 37214872
DOI: 10.1101/2023.05.12.23289807 -
Nutrients Sep 2023The benefits of zinc in treating certain gastrointestinal (GI) diseases have been recognized for over two decades. This review aims to explore zinc deficiency (ZD) and... (Review)
Review
The benefits of zinc in treating certain gastrointestinal (GI) diseases have been recognized for over two decades. This review aims to explore zinc deficiency (ZD) and the potential therapeutic value and safety of zinc supplementation in pediatric GI diseases. A systematic review of published articles on ZD and zinc as adjuvant treatments for GI diseases was conducted using various databases. Children with inflammatory bowel disease (IBD), celiac disease, and those receiving long-term proton pump inhibitor treatments are particularly susceptible to ZD. ZD in children with celiac disease and IBD is attributed to insufficient intake, reduced absorption, and increased intestinal loss as a result of the inflammatory process. Zinc plays a crucial role in maintaining the integrity of the gastric mucosa and exerts a gastroprotective action against gastric lesions. Although considerable evidence supports the use of zinc as adjuvant therapy for certain GI diseases in adults, its use is unspecified in children except for infectious diarrhea. Current evidence suggests that zinc supplementation with well-documented dosages helps reduce the duration of diarrhea in children with acute or persistent diarrhea, while there are no specific guidelines for zinc supplementation in children with IBD and celiac disease. Zinc supplementation appears to be beneficial in peptic ulcer disease or gastroesophageal reflux disease. The available evidence highlights the need for intervention programs to enhance zinc status and reduce the morbidity of certain GI diseases in children.
Topics: Adult; Child; Humans; Zinc; Celiac Disease; Diarrhea; Dietary Supplements; Inflammatory Bowel Diseases
PubMed: 37836377
DOI: 10.3390/nu15194093 -
European Archives of... Aug 2023This PRISMA-compliant systematic review aimed to assess risks and benefits of sirolimus treatment for paediatric lymphatic malformations by focusing not only on... (Review)
Review
PURPOSE
This PRISMA-compliant systematic review aimed to assess risks and benefits of sirolimus treatment for paediatric lymphatic malformations by focusing not only on treatment efficacy but also on possible treatment-related adverse events, and treatment combinations with other techniques.
METHODS
Search criteria were applied to MEDLINE, Embase, Web of Science, Scopus, Cochrane Library, and ClinicalTrials.gov databases and included all studies published up to March 2022 reporting paediatric lymphatic malformations treated with sirolimus. We selected all original studies that included treatment outcomes. After the removal of duplicates, selection of abstracts and full-text articles, and quality assessment, we reviewed eligible articles for patient demographics, lymphatic malformation type, size or stage, site, clinical response rates, sirolimus administration route and dose, related adverse events, follow-up time, and concurrent treatments.
RESULTS
Among 153 unique citations, 19 studies were considered eligible, with reported treatment data for 97 paediatric patients. Most studies (n = 9) were case reports. Clinical response was described for 89 patients, in whom 94 mild-to-moderate adverse events were reported. The most frequently administered treatment regimen was oral sirolimus 0.8 mg/m twice a day, with the aim of achieving a blood concentration of 10-15 ng/mL.
CONCLUSION
Despite promising results for sirolimus treatment in lymphatic malformation, the efficacy and safety profile of remains unclear due to the lack of high-quality studies. Systematic reporting of known side effects, especially in younger children, should assist clinicians in minimising treatment-associated risks. At the same time, we advocate for prospective multicentre studies with minimum reporting standards to facilitate improved candidate selection.
Topics: Humans; Child; Sirolimus; Prospective Studies; Treatment Outcome; Neck; Head; Lymphatic Abnormalities; Vascular Malformations
PubMed: 37115326
DOI: 10.1007/s00405-023-07991-1 -
Asian Journal of Surgery Dec 2023
Meta-Analysis
Topics: Child; Humans; Pediatric Anesthesia; Ketamine; Treatment Outcome
PubMed: 37684126
DOI: 10.1016/j.asjsur.2023.08.073 -
Clinical and Experimental Dental... Oct 2023The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus causes coronavirus disease 2019 (COVID-19), a respiratory infection that has spread worldwide and... (Review)
Review
OBJECTIVES
The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus causes coronavirus disease 2019 (COVID-19), a respiratory infection that has spread worldwide and is responsible for a high death toll. Although respiratory symptoms are the most common, there is growing evidence that oral signs of COVID-19 can also be seen in children. The purpose of this systematic review is to provide a comprehensive analysis of the available data on the oral manifestations of COVID-19 in children and to recommend appropriate methods of diagnosis and treatment.
METHODS
A systematic search of the MEDLINE, EMBASE, Scopus, and Web of Science databases was done to discover relevant papers published between their establishment and January 2023. Articles detailing oral symptoms in pediatric patients with confirmed COVID-19 infection were included, and data on clinical characteristics, diagnosis, treatment, and outcomes were extracted and evaluated.
RESULTS
A total of 24 studies involving 2112 pediatric patients with COVID-19 were included in the review. The most common presentations are oral lesions, taste and smell disorders, oral candidiasis, hemorrhagic crust, tongue discoloration, lip and tongue fissuring, gingivitis, and salivary gland inflammation. These manifestations were sometimes associated with multi-system inflammatory syndrome in children (MIS-C) or Kawasaki disease (KD). Management strategies varied depending on the severity of the oral manifestation and ranged from symptomatic relief with topical analgesics to systemic medications.
CONCLUSION
Oral symptoms of COVID-19 are relatively prevalent in juvenile patients and can be accompanied by severe systemic diseases, such as MIS-C or Kawasaki illness. Early detection and adequate care of these oral symptoms are critical for the best patient results. Understanding the underlying pathophysiology and developing targeted treatments requires more investigation.
Topics: Child; Humans; COVID-19; Databases, Factual; SARS-CoV-2; Practice Guidelines as Topic
PubMed: 37602892
DOI: 10.1002/cre2.776