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Urinary stone disease in the first year of life: is it dangerous?

PURPOSE: We have evaluated the clinical, radiological and metabolic features of infantile urolithiasis (UL). MATERIALS AND METHODS: We have reviewed the medical records of 93 children who were diagnosed as having UL before 1 year of age. We recorded patient demographics, the age at diagnosis, presenting symptoms, family history, the localizations and dimensions of stones, urinary metabolic examinations, as well as physical, laboratory, and radiologic findings. Our secondary objective was to compare some features of this group with those of older children with UL followed-up in the same clinic

Beyond Identifier Matching: An Empirical Characterization of Failure Modes in Biomedical Knowledge Graph Integration.

OBJECTIVE: Biomedical knowledge graphs (KGs) such as PrimeKG, Hetionet, UMLS, and PharmGKB are increasingly used as the substrate for downst … e reproducible failure modes documented in case studies: (i) peer over-merging: for example, all 22 osteogenesis imperfecta subtypes collapsed into a single node despite distinct severity classes; (ii) parent-child collapse: e.g. acute myeloid leukemia merged with myeloid leukemia, erasing the acute/chronic distinction that drives clinical management; and (iii) lexical f …

Acute traumatic rupture of the patellar tendon in pediatric population: Case series and review of the literature.

BACKGROUND: Intact knee extensor mechanism is required for the normal function of the lower extremity. Patellar tendon rupture is a relative … 3.6 years (range: 12-15 years). The injury occurred in relation to sports activities in 4 patients. Osteogenesis imperfecta and Osgood-Schlatter disease were identified in 2 patients. High riding patella is the hallmark diagnostic sign detected in plain x-ray with preoperative Insall-Salvati ratio ranged from 1.7 to 2.5. Three patients had pure soft tissue avulsion dista …

Joint hypermobility syndrome in childhood. A not so benign multisystem disorder?

OBJECTIVES: Joint hypermobility (JH) or "ligamentous laxity" is felt to be an underlying risk factor for many types of musculoskeletal presentation in paediatrics, and joint hypermobility syndrome (JHS) describes such disorders where symptoms become chronic, often more generalized and associated with functional impairment. Clinical features are felt to have much in common with more severe disorders, including Ehlers-Danlos syndrome (EDS), osteogenesis imperfecta and Marfan syndrome, although this has not been formally studied in children. We defined the clinical characteristics of all patients…

Genomic Medicine: Lessons Learned From Monogenic and Complex Bone Disorders.

Current genetic studies of monogenic and complex bone diseases have broadened our understanding of disease pathophysiology, highlighting the need for medical interventions and treatments tailored to the characteristics of patients. As genomic research progresses, novel insights into the molecular mechanisms are starting to provide support to clinical decision-making; now offering ample opportunities for disease screening, diagnosis, prognosis and treatment. Drug targets holding mechanisms with genetic support are more likely to be successful. Therefore, implementing genetic information to the

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… Osteogenesis Imperfecta Osteogenesis imperfecta (OI) is a group of genetic disorders characterized by weak bones, of which most are of autosomal dominant inheritance (types I, II, III, IV, V, and VI); while a few are inherited in an autosomal recessive manner (types VII, VIII and some cases of type … Osteogenesis imperfecta . Nat Rev Dis Prim. ( 2017 ) 3 : 1 – 19 . 10.1038/nrdp.2017.52 28820180 8. Tauer JT Robinson M-E Rauch F . Osteogenesis imperfecta: new perspectives from clinical and translational research . JBMR Plus. ( 2019 ) 3 : e10174 . 10.1002/jbm4.10174 31485550 PMC6715783 9. …

The value of perinatal post-mortem radiography. Experience of 514 cases.

A post-mortem radiological study of 514 perinatally dead infants was carried out in order to evaluate the role of the radiological findings in the diagnosis of abnormal conditions and the cause of death. The study was performed in the Department of Radiology of Oulu University Central Hospital, where the records and radiograms of the cases were sent from 22 Finnish central hospitals and a maternity hospital. The radiograms were taken according to a standardized technique. The cases were collected in a period of 20 months from July 1980 to February 1982, and the number corresponds roughly to th

Whole genome sequencing in adults with clinical hallmarks of hypophosphatasia negative for ALPL variants.

BackgroundHypophosphatasia (HPP) is a rare disease caused by deficient activity of tissue-nonspecific alkaline phosphatase (ALP), encoded by the ALPL gene. The primary objective was to explore novel ALPL variants by whole genome sequencing (WGS) in patients with HPP who previously tested negative by standard methods for ALPL variants. The secondary objective was to search for genes beyond ALPL that may reduce ALP activity or contribute to HPP symptoms.Methods and resultsWGS was performed in 16 patients clinically diagnosed with HPP who had ALP activity below the normal range and tested negativ

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… Variants in COL1A1 are associated with bone disorders, including osteogenesis imperfecta types 1–4 [ 18 ]. Osteogenesis imperfecta is a connective tissue disorder associated with bone fragility, making it a potential differential diagnosis of HPP [ 1 , 19 ]. … Sam JE, Dharmalingam M (2017) Osteogenesis Imperfecta. Indian J Endocrinol Metab 21:903–908. 10.4103/ijem.IJEM_220_17 20. …

Bone fragility and osteoporosis in children and young adults.

Osteoporosis is a metabolic bone disorder which increases fragility fracture risk. Elderly individuals, especially postmenopausal women, are particularly susceptible to osteoporosis. Although rare, osteoporosis in children and young adults is becoming increasingly evident, highlighting the need for timely diagnosis, management and follow-up. Early-onset osteoporosis is defined as the presence of a low BMD (Z-score of ≤ -2.0 in individuals aged < 20 years; T-score of ≤ -2.5 in those aged between 20 to 50 years) accompanied by a clinically significant fracture history, or the presence of low-ene

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… Osteogenesis Imperfecta: mechanisms and signaling pathways connecting classical and rare OI types. Endocr Rev. 2022;43:61–90. doi: 10.1210/endrev/bnab017. 67. Marini JC, Cabral WA, Barnes AM. Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta. … Osteogenesis imperfecta. Nat Rev Dis Primers. 2017;3:17052. doi: 10.1038/nrdp.2017.52. 69. Marom R, Rabenhorst BM, Morello R. Osteogenesis imperfecta: an update on clinical features and therapies. Eur J Endocrinol. 2020;183:R95–r106. doi: 10.1530/eje-20-0299. 70. …

Targeting strategies for bone diseases: signaling pathways and clinical studies.

Since the proposal of Paul Ehrlich's magic bullet concept over 100 years ago, tremendous advances have occurred in targeted therapy. From the initial selective antibody, antitoxin to targeted drug delivery that emerged in the past decades, more precise therapeutic efficacy is realized in specific pathological sites of clinical diseases. As a highly pyknotic mineralized tissue with lessened blood flow, bone is characterized by a complex remodeling and homeostatic regulation mechanism, which makes drug therapy for skeletal diseases more challenging than other tissues. Bone-targeted therapy has b

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… imperfecta treatment. … for osteogenesis imperfecta by the FDA in 2019 (DRU-2019-6966), which may pioneer a novel target for developing next-generation sclerostin inhibitors. …

Persistance and Compliance with Osteroporosis Therapies Among Women in a Commercially Insured Population in the United States.

BACKGROUND: Prior research has shown that rates of persistence and compliance with osteoporosis therapies are associated with significantly … tracking persistence and compliance for this medication. Patients with Paget's disease of the bone, osteogenesis imperfecta, hypercalcemia, malignant cancer and metastasis, human immunodeficiency virus, and patients receiving preventive treatment for risk of breast cancer or denosumab in the pre-index period were excluded from the study. A subcohort of women aged 50 year …

[Plasticity of stem cells: a change of paradigm?].

Until a few years ago, an interest in stem cells, mostly of hematopoietic origin, was limited to a relatively small representation of scientists and clinicians seeking to understand the role of these rare cells in tissue homeostasis and to utilize their remarkable potential to regenerate an adult tissue following transplantation. Over the last few years, an ability of bone marrow-, brain-, muscle- and other tissue-derived stem cells to branch off, move between tissues and contribute to their repair was discovered. According to this novel view, at least a subset of stem cells may alter their fa

Variations in human urinary O-hydroxylysyl glycoside levels and their relationship to collagen metabolism.

Two O-hydroxylysyl glycosides, Hyl-Gal-Glc and Hyl-Gal, have been isolated from normal human urine and shown to be identical to two glycosides isolated from alkaline hydrolysates of collagen. A relatively sample and reproducible analytical procedure has been devised to measure the levels of these glycosides in human urine. By the use of this procedure it was shown that a normal diet has only a small effect on 24-hr urinary excretion levels of these glycosides indicating an endogenous origin. Urinary glycoside levels appear to be highest in children, roughly paralleling collagen turnover as ind

Prevalence of low alkaline phosphatase activity in laboratory assessment: Is hypophosphatasia an underdiagnosed disease?

BackgroundTissue-nonspecific alkaline phosphatase (TNSALP) encoded by the ALPL gene is of particular importance for bone mineralization. Mutation in the ALPL gene can lead to persistent low ALP activity resulting in the rare disease Hypophosphatasia (HPP) that is characterized by disturbed bone and dental mineralization. While severe forms are extremely rare with an estimated prevalence of 1/100.000, recent studies suggest that moderate form caused by heterozygous mutations are much more frequent with an estimated prevalence of 1/508. The purpose of this study was to estimate the prevalence of

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… Modified from (13) Causes of low ALP activity Hypophosphatasia (HPP) Osteogenesis imperfecta Cleidocranial dysplasia Mseleni joint disease Vitamin D intoxication Multiple myeloma Wilson's disease Vitamin C deficiency hypothyroidism Zn++ or Mg++ deficiency Cushing's syndrome Milk-alkali syndrome Celiac … Modified from (13) Causes of low ALP activity Hypophosphatasia (HPP) Osteogenesis imperfecta Cleidocranial dysplasia Mseleni joint disease Vitamin D intoxication Multiple myeloma Wilson's disease Vitamin C deficiency hypothyroidism Zn++ or Mg++ deficiency Cushing's syndrome Milk-alkali syndrome Celiac …

Dental implants in patients treated with antiresorptive medication - a systematic literature review.

OBJECTIVE: Bisphosphonate-associated osteonecrosis of the jaws (BP-ONJ) is triggered by inflammatory processes. Typical trigger factors are periodontal disease, denture pressure sores, and surgical interventions such as tooth extractions. Unfortunately there is only little data on how to proceed with implant therapy in patients with bisphosphonate treatment. This topic is not addressed in the German guidelines on medication-associated osteonecrosis. Therefore a systematic literature review was performed. METHODS: The PICO design was used: (Patients) For which subclientel of patients with anti

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… imperfecta, ossification [NOT children NOT osteogenesis imperfecta], bone remodeling, and post extraction [NOT children NOT osteogenesis imperfecta]. 17 articles were added due to the manual search (Table 1 and Fig. 1 ). … ST (bisphosphonate OR denosumab) AND Dental implant AND prognosis | 16 | 0 Persisting alveolar socket | 2 | 2 Sharp bone edges AND jaw NOT children NOT osteogenesis imperfecta | 2 | 0 Ossification AND jaw NOT children NOT osteogenesis imperfecta | 66 | 0 Bone remodeling AND post extraction AND jaw NOT …

Teledentistry as a Supportive Tool for Dentists in Diagnosing MRONJ in Northern Cyprus.

OBJECTIVE: This web-based survey, as a tool of teledentistry, is aimed at assessing the level of knowledge, attitudes, and awareness regarding MRONJ among dental professionals in Northern Cyprus. METHODS: An online self-administered questionnaire about MRONJ was sent to all dentists in Northern Cyprus through Google Forms. The first part of the questionnaire consists of demographic and professional information, and the second part included questions about knowledge and awareness questions about MRONJ. The SPSS software was used for statistical data analysis. A Chi-square test was performed to

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… Bone metastasis and osteogenesis imperfecta are considered as an answer in every specialty area almost equally except general dentists, orthodontics, and endodontics. These three specialties showed lower percentages. … imperfecta [ 13 , 33 , 34 , 37 ]. …