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  • 1
    Online Resource
    Online Resource
    Springer Publishing Company ; 2017
    In:  Neonatal Network Vol. 36, No. 4 ( 2017), p. 196-205
    In: Neonatal Network, Springer Publishing Company, Vol. 36, No. 4 ( 2017), p. 196-205
    Abstract: Transient neonatal diabetes mellitus (TNDM) is a rare disorder, with a reported incidence of approximately 1 in 450,000 live births. It is characterized by insulin-requiring hyperglycemia in the neonatal period. The disease improves by early childhood, but the patient may relapse in later life. Diagnosis is made after genetic testing following presentation with hyperglycemia not conforming to Type 1 or Type 2 diabetes. Management is based on insulin and possible sulfonylurea administration. Three genetically distinct subtypes of TNDM are recognized. Type 1 TNDM is due to overexpression of genes at the 6q24 locus, whereas the 11p15 locus is involved in Type 2 and 3 TNDM. In this article the clinical presentation, management, and genetics of TNDM are discussed, particularly emphasizing the role of the neonatal nurse.
    Type of Medium: Online Resource
    ISSN: 0730-0832 , 1539-2880
    Language: English
    Publisher: Springer Publishing Company
    Publication Date: 2017
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  • 2
    Online Resource
    Online Resource
    Mark Allen Group ; 2022
    In:  British Journal of Hospital Medicine Vol. 83, No. 6 ( 2022-06-02), p. 1-7
    In: British Journal of Hospital Medicine, Mark Allen Group, Vol. 83, No. 6 ( 2022-06-02), p. 1-7
    Abstract: Hypercalcaemia is a common metabolic abnormality and its differential diagnosis is vast. Immobility is an uncommon cause of hypercalcaemia. Immobilisation hypercalcaemia is independent of parathyroid hormone and is associated with low levels of 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D. In addition, it is characterised by elevated levels of markers of bone resorption and low levels of bone-specific alkaline phosphatase, highlighting an imbalance of bone remodelling favouring osteoclastic bone resorption. Although immobilisation hypercalcaemia is a diagnosis of exclusion, physicians need to be aware of this condition to avoid excessive and invasive investigations when all other causes of parathyroid hormone-independent hypercalcaemia have been excluded. Management of immobilisation hypercalcaemia revolves around early mobilisation and rehabilitation together with pharmacotherapeutic agents such as intravenous isotonic saline, calcitonin and bisphosphonates. Denosumab may be a potential alternative yet off-label treatment for immobility hypercalcaemia in patients with renal insufficiency.
    Type of Medium: Online Resource
    ISSN: 1750-8460 , 1759-7390
    Language: English
    Publisher: Mark Allen Group
    Publication Date: 2022
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  • 3
    Online Resource
    Online Resource
    Wiley ; 2023
    In:  Therapeutic Apheresis and Dialysis Vol. 27, No. 4 ( 2023-08), p. 726-734
    In: Therapeutic Apheresis and Dialysis, Wiley, Vol. 27, No. 4 ( 2023-08), p. 726-734
    Abstract: Dialysis patients are at increased risk of severe COVID‐19 infection making vaccination a priority. We explored COVID‐19 vaccine uptake and perceptions in our dialysis population, associated COVID‐19 infection, and hospitalization rates. Methods This is a single‐center retrospective study using telephone questionnaires and hospital records to investigate COVID‐19 vaccine uptake and attitudes behind vaccination status. Results A total of 230 patients were interviewed. Vaccine uptake was 97.8% (two doses) and 86.6% (booster dose), with 79.5% vaccinated at Renal Unit. Most (58.5%) cited healthcare worker advice as a contributing factor and 54% sought protection through vaccination. COVID‐19 hospitalization was higher in unvaccinated and patients vaccinated with one dose, compared to two doses (63.2% vs. 20%, p  = 0.05) and booster dose (63.2% vs. 22.2%, p  = 0.02). Conclusion Our dialysis population recognized the importance of COVID‐19 vaccination. Intensive patient education and easy access to the COVID‐19 vaccine may have facilitated vaccine uptake in these patients.
    Type of Medium: Online Resource
    ISSN: 1744-9979 , 1744-9987
    URL: Issue
    Language: English
    Publisher: Wiley
    Publication Date: 2023
    detail.hit.zdb_id: 2010864-3
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  • 4
    In: Orphanet Journal of Rare Diseases, Springer Science and Business Media LLC, Vol. 18, No. 1 ( 2023-09-04)
    Abstract: Estimates of rare disease (RD) population impact in terms of number of affected patients and accurate disease definition is hampered by their under-representation in current coding systems. This study tested the use of a specific RD codification system (ORPHAcodes) in five European countries/regions (Czech Republic, Malta, Romania, Spain, Veneto region-Italy) across different data sources over the period January 2019-September 2021. Results Overall, 3133 ORPHAcodes were used to describe RD diagnoses, mainly corresponding to the disease/subtype of disease aggregation level of the Orphanet classification (82.2%). More than half of the ORPHAcodes (53.6%) described diseases having a very low prevalence ( 〈  1 case per million), and most commonly captured rare developmental defects during embryogenesis (31.3%) and rare neurological diseases (17.6%). ORPHAcodes described disease entities more precisely than corresponding ICD-10 codes in 83.4% of cases. Conclusions ORPHAcodes were found to be a versatile resource for the coding of RD, able to assure easiness of use and inter-country comparability across population and hospital databases. Future research on the impact of ORPHAcoding as to the impact of numbers of RD patients with improved coding in health information systems is needed to inform on the real magnitude of this public health issue.
    Type of Medium: Online Resource
    ISSN: 1750-1172
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2023
    detail.hit.zdb_id: 2225857-7
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  • 5
    Online Resource
    Online Resource
    Oxford University Press (OUP) ; 2023
    In:  Nephrology Dialysis Transplantation Vol. 38, No. Supplement_1 ( 2023-06-14)
    In: Nephrology Dialysis Transplantation, Oxford University Press (OUP), Vol. 38, No. Supplement_1 ( 2023-06-14)
    Abstract: Minor lower limb amputations (toe amputations and/or amputations distal to or through the tarsometatarsal joint), are limb and potentially lifesaving procedures. However, they are associated with serious adverse events including acute kidney injury (AKI). The aim of this study was to determine the incidence of AKI after such interventions, identify potential risk factors and assess impact on patient survival. Method This was a single centre retrospective study involving patients who underwent minor lower limb amputations at Mater Dei Hospital Malta between January and December 2019. Patient and procedure details were obtained from hospital records. Estimated glomerular filtration rate (eGFR) was calculated using the Modification of Diet in Renal Disease formula. Chronic kidney disease (CKD) was defined as per Kidney Disease: Improving Global Outcomes (KDIGO) criteria. AKI was defined using Acute Kidney Injury Network (AKIN) criteria or KDIGO criteria if day 7 serum creatinine was available. Statistical analysis was performed using SPSS Statistics for Windows v21.0 (IBM Corp.). Results A total of 201 patients were included; males 69.7%, mean age 70.4 ±11.5 years, 87.1% had diabetes mellitus, 71.1% hypertension and 26.4% had ischemic heart disease. Pre-existing CKD was identified in 35.8%; 16.4% CKD stage 3a, 13.4% CKD stage 3b, 5.5% CKD 4 and 1 patient CKD 5. The majority (76.1%) underwent single toe amputations. Surgery was performed under loco-regional anaesthesia in 90% of patients, mostly in view of lower limb ulcers (64.7%) or gangrene (29.4%). A cohort of 54 (26.9%) patients received iodine based contrast within 7 days of procedure, including those who underwent bypass surgery (8%) and endarterectomy (4%). The incidence of AKI after minor lower limb amputations using AKIN criteria was 18.9%. An additional 12 patients were identified using KDIGO criteria (24.9%), however KDIGO criteria could only be applied for 123 patients as the rest did not have a day 7 serum creatinine. Most developed stage 1 AKI (18.4%), one patient developed stage 2 AKI and none developed stage 3 AKI using AKIN criteria. Only 1 patient needed temporary haemodialysis having developed AKI after day 3 post-operatively fulfilling KDIGO but not AKIN criteria. Recovery of kidney function occurred in all patients. All-cause mortality at 30 days, 60 days and 18 months (end of follow-up) was 2.0%, 5.5% and 19.9% respectively. None of the deaths were directly related to the AKI-amputation event. Patients who developed AKI, compared to those who did not, were more likely to have an eGFR & lt;45ml/min/1.73 m2 at the time of procedure (39.5% vs. 14.7%, p = 0.001). They were significantly older (73.0 ±10.4 vs. 68.5 ±11.8 years, p = 0.033), and more likely to have underlying chronic obstructive pulmonary disease (COPD) (28.9% vs. 13.5% p = 0.028). Use of loop and/or thiazide diuretics (68.4% vs. 49.1%, p = 0.049), fluoroquinolones (71.1% vs. 52.8% p = 0.047) and/or carbapenems (10.5% vs. 2.5%, p = 0.043) was also more frequent in this group. Use of iodine based contrast within 7 days of procedure did not effect incidence of AKI. Hospital length of stay and all-cause mortality were not significantly higher in patients with AKI. An eGFR & lt;45ml/min/1.73 m2 was established as a strong independent predictor for the development of AKI (odds ratio [OR] 3.24, confidence interval [CI] : 1.40–7.52, p = 0.006), as were use of fluoroquinolones (OR: 3.19, CI: 1.30–7.82, p = 0.012) and day 1 C-reactive protein (CRP) (OR: 1.01, CI: 1.00–1.01, p = 0.009). Cumulative survival censored at the end of follow-up was not significantly lower in patients who developed AKI (log rank: 0.45, p = 0.50). Conclusion In our study, 18.9% of patients developed AKI after minor lower limb amputations using AKIN criteria. One patient required acute haemodialysis. Age, COPD, diuretics, fluoroquinolones and carbapenems were associated with increased incidence of AKI. An eGFR & lt;45ml/min/1.73 m2, day 1 CRP and fluoroquinolone use were independent risk factors for the development of AKI. In this small patient cohort, AKI was not associated with higher all-cause mortality, and none of the deaths were directly related to the AKI-amputation event.
    Type of Medium: Online Resource
    ISSN: 0931-0509 , 1460-2385
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2023
    detail.hit.zdb_id: 1465709-0
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  • 6
    Online Resource
    Online Resource
    Bioscientifica ; 2022
    In:  Endocrine Abstracts ( 2022-05-07)
    In: Endocrine Abstracts, Bioscientifica, ( 2022-05-07)
    Type of Medium: Online Resource
    ISSN: 1479-6848
    Language: Unknown
    Publisher: Bioscientifica
    Publication Date: 2022
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