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Anales de Pediatria Oct 2021Developmental dysplasia of the hip is a common cause of disability among children. Early detection leads to better prognosis. There are some risk factors that increase...
INTRODUCTION
Developmental dysplasia of the hip is a common cause of disability among children. Early detection leads to better prognosis. There are some risk factors that increase the possibility of developing a dysplasia. But not every child with developmental dysplasia has them. This means that physical examination is still very useful to detect them. However, based on clinical findings, the amount of requested ultrasound seems higher than it would be necessary.
METHODS
Retrospective cohort study of infants born in a single tertiary care centre. Babies in which hip ultrasound was performed were included. During the period of study, patients with diagnosis of developmental hip dysplasia were also included, as well as the amount of ultrasounds requested during this period, and their efficiency.
RESULTS
Out of the 456 newborns included, 530 hip ultrasounds were performed. Just 3 of the total 12 dysplasias had risk factors. The others were diagnosed through clinical examination.
CONCLUSIONS
Screening protocols are useful to detect hip dysplasia but clinical examination is very important to detect those cases without risk factors. However, the number of tests is higher than expected according to the diagnosed dysplasias.
Topics: Child; Developmental Dysplasia of the Hip; Female; Hip Dislocation, Congenital; Humans; Infant; Infant, Newborn; Physical Examination; Retrospective Studies; Ultrasonography
PubMed: 34511400
DOI: 10.1016/j.anpede.2020.07.024 -
Gastroenterology Aug 2019Barrett's esophagus (BE) is a precursor to esophageal adenocarcinoma (EAC). Progression from BE to cancer is associated with obesity, possibly due to increased abdominal...
BACKGROUND & AIMS
Barrett's esophagus (BE) is a precursor to esophageal adenocarcinoma (EAC). Progression from BE to cancer is associated with obesity, possibly due to increased abdominal pressure and gastroesophageal reflux disease, although this pathogenic mechanism has not been proven. We investigated whether environmental or dietary factors associated with obesity contribute to the progression of BE to EAC in mice.
METHODS
Tg(ED-L2-IL1RN/IL1B)#Tcw mice (a model of BE, called L2-IL1B mice) were fed a chow (control) or high-fat diet (HFD) or were crossbred with mice that express human interleukin (IL) 8 (L2-IL1B/IL8 mice). Esophageal tissues were collected and analyzed for gene expression profiles and by quantitative polymerase chain reaction, immunohistochemistry, and flow cytometry. Organoids were established from BE tissue of mice and cultured with serum from lean or obese individuals or with neutrophils from L2-IL1B mice. Feces from mice were analyzed by 16s ribosomal RNA sequencing and compared to 16s sequencing data from patients with dysplasia or BE. L2-IL1B were mice raised in germ-free conditions.
RESULTS
L2-IL1B mice fed an HFD developed esophageal dysplasia and tumors more rapidly than mice fed the control diet; the speed of tumor development was independent of body weight. The acceleration of dysplasia by the HFD in the L2-IL1B mice was associated with a shift in the gut microbiota and an increased ratio of neutrophils to natural killer cells in esophageal tissues compared with mice fed a control diet. We observed similar differences in the microbiomes from patients with BE that progressed to EAC vs patients with BE that did not develop into cancer. Tissues from dysplasias of L2-IL1B mice fed the HFD contained increased levels of cytokines that are produced in response to CXCL1 (the functional mouse homolog of IL8, also called KC). Serum from obese patients caused organoids from L2-IL1B/IL8 mice to produce IL8. BE tissues from L2-IL1B mice fed the HFD and from L2-IL1B/IL8 mice contained increased numbers of myeloid cells and cells expressing Cxcr2 and Lgr5 messenger RNAs (epithelial progenitors) compared with mice fed control diets. BE tissues from L2-IL1B mice raised in germ-free housing had fewer progenitor cells and developed less dysplasia than in L2-IL1 mice raised under standard conditions; exposure of fecal microbiota from L2-IL1B mice fed the HFD to L2-IL1B mice fed the control diet accelerated tumor development.
CONCLUSIONS
In a mouse model of BE, we found that an HFD promoted dysplasia by altering the esophageal microenvironment and gut microbiome, thereby inducing inflammation and stem cell expansion, independent of obesity.
Topics: Adenocarcinoma; Adult; Aged; Animals; Barrett Esophagus; Carcinogenesis; Diet, High-Fat; Disease Models, Animal; Disease Progression; Esophageal Neoplasms; Esophagus; Feces; Female; Gastrointestinal Microbiome; Healthy Volunteers; Humans; Interleukin-8; Male; Mice; Mice, Inbred C57BL; Mice, Transgenic; Middle Aged; Obesity; Organoids; Serum; Time Factors; Tissue Culture Techniques
PubMed: 30998992
DOI: 10.1053/j.gastro.2019.04.013 -
Current Osteoporosis Reports Apr 2023This study aims to review diagnosis, potential complications, and clinical management in craniofacial fibrous dysplasia. (Review)
Review
PURPOSE OF REVIEW
This study aims to review diagnosis, potential complications, and clinical management in craniofacial fibrous dysplasia.
RECENT FINDINGS
Fibrous dysplasia (FD) is a rare mosaic disorder in which normal bone and marrow are replaced with expansile fibro-osseous lesions. Disease presents along a broad spectrum and may be associated with extraskeletal features as part of McCune-Albright syndrome (MAS). The craniofacial skeleton is one of the most commonly impacted areas in FD, and its functional and anatomical complexities create unique challenges for diagnosis and management. This review summarizes current approaches to diagnosis and management in FD/MAS, with emphasis on the clinical and therapeutic implications for the craniofacial skeleton.
Topics: Humans; Craniofacial Fibrous Dysplasia; Fibrous Dysplasia of Bone; Fibrous Dysplasia, Polyostotic; Bone and Bones
PubMed: 36849642
DOI: 10.1007/s11914-023-00779-6 -
Advances in Therapy May 2020Metabolic skeletal dysplasias comprise an extensive group of diseases capable of causing changes, usually progressive, in the bone and are due to hereditary disorders in...
Metabolic skeletal dysplasias comprise an extensive group of diseases capable of causing changes, usually progressive, in the bone and are due to hereditary disorders in many cases. The diagnosis and treatment of these diseases are not without difficulty, both because of their rarity and their possible confusion with more common diseases. A paradigmatic case of these metabolic skeletal dysplasias is X-linked hypophosphataemic rickets, which causes phosphaturia, a condition that alters the phosphate-calcium metabolism balance consequently causing, among other conditions, skeletal deformities and short stature. The genetic advances in recent years allow a much more accurate diagnosis of this disease when suspected, making differential diagnosis easier with similar entities but whose real causes are different. A better understanding of the phosphate-calcium metabolism allows us to replace the symptomatic treatment currently available with one that involves rebalancing the excess of fibroblast growth factor 23 (FGF23) by using monoclonal antibodies. In November 2018, a symposium sponsored by Kyowa Kirin Pharmaceuticals took place in Madrid, in which national and international experts addressed several aspects of these rare kidney diseases. Some topics addressed were the present and future genetic diagnosis, the use of multi-gene panels in renal or skeletal diseases, the role of animal models to better understand underlying skeletal changes, and the role of conventional radiology and surgery in the diagnosis and final treatment of bone deformities; all these without forgetting the important role of FGF23 and Klotho imbalances that result in the genetic change causing this disease. The optimization and limitations of conventional treatments currently available was also a topic addressed extensively, as well as the implications that new treatments against FGF23 could have in the future. This article is based on previously conducted studies and does not contain any new studies with human participants or animals performed by the author.
Topics: Biomarkers; Bone Diseases, Metabolic; Female; Fibroblast Growth Factor-23; Fibroblast Growth Factors; Genetic Predisposition to Disease; Glucuronidase; Humans; Hypophosphatemia; Klotho Proteins; Male
PubMed: 32236867
DOI: 10.1007/s12325-019-01177-0 -
Journal of Medical Case Reports Nov 2019Ectodermal dysplasia is a rare genetic disorder that affects ectodermally derived structures, including teeth, nails, hair, and sweat glands. Hypohidrotic ectodermal...
BACKGROUND
Ectodermal dysplasia is a rare genetic disorder that affects ectodermally derived structures, including teeth, nails, hair, and sweat glands. Hypohidrotic ectodermal dysplasia is the most common type, with oligodontia being the most striking dental feature. Prosthetic rehabilitation in children with ectodermal dysplasia is an important step toward improving their overall quality of life. The fixed prosthesis has the advantages of being more stable in the mouth with good child compliance and a good aesthetic outcome.
CASE PRESENTATION
Our patient was a 5-year-old Middle Eastern boy with oligodontia caused by ectodermal dysplasia. He was managed by fabrication of an upper functional space maintainer and a lower fixed partial denture to restore occlusion, masticatory function, aesthetics, and overall quality of life.
CONCLUSIONS
The use of the fixed prosthesis in children is a new and evolving treatment modality that resolves many of the issues caused by removable prostheses. It accommodates jaw growth in the mandible, reduces the need to remake the prosthesis, and has an overall better aesthetic outcome.
Topics: Adaptation, Physiological; Anodontia; Child, Preschool; Dental Prosthesis; Denture Design; Denture, Partial, Removable; Ectodermal Dysplasia 1, Anhidrotic; Humans; Male; Quality of Life; Treatment Outcome
PubMed: 31699141
DOI: 10.1186/s13256-019-2268-4