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Reviews in Endocrine & Metabolic... Dec 2023Fibrous dysplasia (FD) is a rare skeletal disorder in which normal bone is replaced by a fibro-osseous tissue, resulting in possible deformities and fractures. The aim... (Meta-Analysis)
Meta-Analysis Review
Fibrous dysplasia (FD) is a rare skeletal disorder in which normal bone is replaced by a fibro-osseous tissue, resulting in possible deformities and fractures. The aim of this systematic review and meta-analysis was to synthesize the available evidence on the use of antiresorptive drugs in FD in terms of changes in bone turnover markers (BTMs), bone mineral density (BMD), and reducing pain. Three databases were searched in October 2022, with an update in July 2023. Of the 1037 studies identified, 21 were retained after eligibility assessment. A random-effects model was used to calculate global effect size and the corresponding standard error. Pamidronate and Denosumab were the most reported drugs in a total of 374 patients assessed. The initiation of treatments was accompanied by an average reduction of 40.5% [CI -51.6, -29.3] in the bone resorption parameters, and 22.0% [CI -31.9, -12.1] in the parameters of bone formation after 6-12 months. BMD was increased in both FD lesions and in the unaffected skeleton. Pain was reduced by 32.7% [CI -52.7, -12.6] after 6-12 months of treatment, and by 44.5% [CI -65.3, -23.6] after a mean 41.2 months of follow-up. The variation in pain was highly correlated to variation in bone resorption (R = 0.08, p < 0.0001) and formation parameters (R = 0.17, p < 0.0001). This study supports the overall efficacy of antiresorptive therapies in terms of reducing bone remodeling, improving bone density, and pain in FD.
Topics: Humans; Bone Density Conservation Agents; Fibrous Dysplasia, Polyostotic; Diphosphonates; Fibrous Dysplasia of Bone; Bone Resorption; Pain
PubMed: 37632645
DOI: 10.1007/s11154-023-09832-2 -
Paediatric Respiratory Reviews Jun 2024
Topics: Humans; Bronchopulmonary Dysplasia; Infant, Newborn; Infant, Premature
PubMed: 38614922
DOI: 10.1016/j.prrv.2024.03.001 -
Oral and Maxillofacial Surgery Clinics... Aug 2024Craniofacial fibro-osseous lesions represent a diverse spectrum of pathologic conditions where fibrous tissue replaces healthy bone, resulting in the formation of... (Review)
Review
Craniofacial fibro-osseous lesions represent a diverse spectrum of pathologic conditions where fibrous tissue replaces healthy bone, resulting in the formation of irregular, woven bone. They are more commonly diagnosed in young people, with treatment strategies dependent on clinical behavior and skeletal maturity. This article discusses the examples of craniofacial fibro-osseous lesions, based on the latest classifications, along with their diagnostic criteria and management.
Topics: Humans; Child; Diagnosis, Differential; Fibrous Dysplasia of Bone; Facial Bones; Fibroma, Ossifying; Craniofacial Fibrous Dysplasia; Skull Neoplasms
PubMed: 38705816
DOI: 10.1016/j.coms.2024.03.004 -
Genetics in Medicine : Official Journal... Oct 2023Skeletal dysplasia are heterogeneous conditions affecting the skeleton. Common nutrition issues include feeding difficulties, obesity, and metabolic complications. This...
PURPOSE
Skeletal dysplasia are heterogeneous conditions affecting the skeleton. Common nutrition issues include feeding difficulties, obesity, and metabolic complications. This systematic scoping review aimed to identify key nutrition issues, management strategies, and gaps in knowledge regarding nutrition in skeletal dysplasia.
METHODS
The databases Ovid MEDLINE, Ovid EMBASE, Ebsco CINAHL, Scopus, and Cochrane Central Register of Controlled Trials and Database of Systematic Reviews were searched. Reference lists and citing literature for included studies were searched. Eligible studies included participants with skeletal dysplasia and described: anthropometry, body composition, nutrition-related biochemistry, clinical issues, dietary intake, measured energy or nutrition requirements, or nutrition interventions.
RESULTS
The literature search identified 8509 references from which 138 studies were included (130 observational, 3 intervention, 2 systematic reviews, and 3 clinical guidelines). Across 17 diagnoses identified, most studies described osteogenesis imperfecta (n = 50) and achondroplasia or hypochondroplasia (n = 47). Nutrition-related clinical issues, biochemistry, obesity, and metabolic complications were most commonly reported, and few studies measured energy requirements (n = 5).
CONCLUSION
Nutrition-related comorbidities are documented in skeletal dysplasia; yet, evidence to guide management is scarce. Evidence describing nutrition in rarer skeletal dysplasia conditions is lacking. Advances in skeletal dysplasia nutrition knowledge is needed to optimize broader health outcomes.
Topics: Humans; Comorbidity; Dwarfism; Obesity; Osteochondrodysplasias; Systematic Reviews as Topic
PubMed: 37330695
DOI: 10.1016/j.gim.2023.100920 -
Gastroenterology Clinics of North... Mar 2024Gastric dysplasia is defined as an unequivocally neoplastic epithelium. Dysplastic lesions are characterized by cellular atypia reflective of abnormal differentiation... (Review)
Review
Gastric dysplasia is defined as an unequivocally neoplastic epithelium. Dysplastic lesions are characterized by cellular atypia reflective of abnormal differentiation and disorganized glandular architecture. The last few years have been marked by a refinement of the prognosis and risk of progression of gastric dysplasia and the recognition of novel morphologic patterns of dysplasia. Determination of the correct diagnosis and grade of dysplasia are critical steps since it will be predicting the risk of malignant transformation and help tailor appropriate surveillance strategy. This review describes the morphologic characteristics of conventional dysplasia and nonconventional gastric dysplasia that have been more recently characterized.
Topics: Humans; Gastric Mucosa; Clinical Relevance; Stomach Neoplasms; Hyperplasia; Precancerous Conditions
PubMed: 38280750
DOI: 10.1016/j.gtc.2023.11.003 -
Cureus Oct 2023Ectodermal dysplasia (ED) is a rare genetic disorder that affects the developmental disturbance of ectoderm-derived tissues, organs, and accessory appendages, i.e. skin,...
Ectodermal dysplasia (ED) is a rare genetic disorder that affects the developmental disturbance of ectoderm-derived tissues, organs, and accessory appendages, i.e. skin, hair, tooth, nail, and sweat glands. ED has two types hypohidrotic or anhidrotic ectodermal dysplasia and hidrotic ectodermal dysplasia. We report this case of classical hypohidrotic ectodermal dysplasia (HED) with clubbing. The association of clubbing with HED is still rare. This case report aims to discuss the etiology, clinical manifestations, and management of ectodermal dysplasia. A multidisciplinary approach is required including dentists, nutritionists, dermatologists, and physicians to manage ectodermal dysplasia.
PubMed: 37927739
DOI: 10.7759/cureus.46530 -
Clinics in Perinatology Mar 2024Long-term outcomes of persistent pulmonary hypertension of newborn (PPHN) depend on disease severity, duration of ventilation, and associated anomalies. Congenital... (Review)
Review
Long-term outcomes of persistent pulmonary hypertension of newborn (PPHN) depend on disease severity, duration of ventilation, and associated anomalies. Congenital diaphragmatic hernia survivors may have respiratory morbidities and developmental delay. The presence of PPHN is associated with increased mortality in hypoxic-ischemic encephalopathy, though the effects on neurodevelopment are less clear. Preterm infants can develop pulmonary hypertension (PH) early in the postnatal course or later in the setting of bronchopulmonary dysplasia (BPD). BPD-PH is associated with higher mortality, particularly within the first year. Evidence suggests that both early and late PH in preterm infants are associated with neurodevelopmental impairment.
Topics: Infant; Infant, Newborn; Humans; Nitric Oxide; Infant, Premature; Hypertension, Pulmonary; Bronchopulmonary Dysplasia; Hernias, Diaphragmatic, Congenital
PubMed: 38325946
DOI: 10.1016/j.clp.2023.10.002 -
Clinics in Colon and Rectal Surgery Jan 2024Given the chronic nature of mucosal inflammation present in patients with inflammatory bowel disease (IBD), there is a high risk of dysplastic lesions progressing to... (Review)
Review
Given the chronic nature of mucosal inflammation present in patients with inflammatory bowel disease (IBD), there is a high risk of dysplastic lesions progressing to cancer, in addition to a high risk of synchronous and/or metachronous cancers developing in those diagnosed with dysplasia. Due to this, consensus guidelines recommend regular surveillance. When visible dysplasia is encountered, options include endoscopic or surgical resection depending on characteristics of the lesion. Advancements in endoscopic tools increasingly allow for endoscopic removal when appropriate. Invisible dysplasia discovered on random biopsy should prompt referral to physicians who specialize in IBD. While surgical resection with proctocolectomy significantly decreases the risk of colorectal cancer, the risk must be balanced against the morbidity of surgery and quality-of-life concerns. Management of dysplasia in IBD patients requires complex decision-making that requires balance of patient values and goals of care with cancer-related risk factors.
PubMed: 38188069
DOI: 10.1055/s-0043-1762559 -
A Rare Skeletal Disorder, Fibrous Dysplasia: A Review of Its Pathogenesis and Therapeutic Prospects.International Journal of Molecular... Oct 2023Fibrous dysplasia (FD) is a rare, non-hereditary skeletal disorder characterized by its chronic course of non-neoplastic fibrous tissue buildup in place of healthy bone.... (Review)
Review
Fibrous dysplasia (FD) is a rare, non-hereditary skeletal disorder characterized by its chronic course of non-neoplastic fibrous tissue buildup in place of healthy bone. A myriad of factors have been associated with its onset and progression. Perturbation of cell-cell signaling networks and response outputs leading to disrupted building blocks, incoherent multi-level organization, and loss of rigid structural motifs in mineralized tissues are factors that have been identified to participate in FD induction. In more recent years, novel insights into the unique biology of FD are transforming our understandings of its pathology, natural discourse of the disease, and treatment prospects. Herein, we built upon existing knowledge with recent findings to review clinical, etiologic, and histological features of FD and discussed known and potential mechanisms underlying FD manifestations. Subsequently, we ended on a note of optimism by highlighting emerging therapeutic approaches aimed at either halting or ameliorating disease progression.
Topics: Humans; GTP-Binding Protein alpha Subunits, Gs; Fibrous Dysplasia of Bone; Bone and Bones; Cell Communication
PubMed: 37958575
DOI: 10.3390/ijms242115591 -
Orvosi Hetilap Nov 2023The ectrodactyly-ectodermal dysplasia-clefting syndrome is an extremely rare genetic disorder that is inherited as an autosomal dominant trait, but can also occur...
The ectrodactyly-ectodermal dysplasia-clefting syndrome is an extremely rare genetic disorder that is inherited as an autosomal dominant trait, but can also occur sporadically. It is characterized by the triad of ectrodactyly (absence of fingers), ectodermal dysplasia and cleft lip and palate along with variable involvement of other organs. Both the ectodermal and mesodermal tissues may be affected resulting in a spectrum of phenotypes. Early diagnosis and treatment signify a unique challenge for those involved in the clinical management, while enable counseling and preparation of parents for the tasks ahead of them. In our report, we describe the case of a patient with sporadic EEC syndrome. In addition to the presentation of the complex phenotype along with the medical interventions, we summarize the most important characteristics of the disease, the diagnostic and therapeutic possibilities as well as the clinical significance of the accurate genetic verification. Using whole exome sequencing, we identified in the 3q28 chromosomal region a pathogenic mutation within the TP63 gene previously linked to the EEC3 phenotypes. The knowledge of pathogenic mutation provides the means to prenatal diagnostics or in vitro fertilization methods that allows us to minimize the possibility of inheriting the syndrome in the patient's offspring. By presenting our case, we aim to draw attention to this rare and disabling disease that requires the high quality works of a multidisciplinary team capable of ensuring good quality of life for the patient. Orv Hetil. 2023; 164(46): 1831-1837.
Topics: Female; Pregnancy; Humans; Cleft Lip; Cleft Palate; Quality of Life; Ectodermal Dysplasia
PubMed: 37980600
DOI: 10.1556/650.2023.32913