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Clinical Genetics Jun 2024HDR syndrome is a rare disease characterized by hypoparathyroidism, deafness, and renal dysplasia. An autosomal dominant disease caused by heterozygous pathogenic GATA3...
HDR syndrome is a rare disease characterized by hypoparathyroidism, deafness, and renal dysplasia. An autosomal dominant disease caused by heterozygous pathogenic GATA3 variants, the penetrance of each associated condition is variable. Literature reviews have provided some answers, but many questions remain, in particular what the relationship is between genotype and phenotype. The current study examines 28 patients with HDR syndrome combined with an exhaustive review of the literature. Some conditions such as hearing loss are almost always present, while others described as rare initially, do not seem to be so rare after all (genital malformations and basal ganglia calcifications). By modeling pathogenic GATA3 variants found in HDR syndrome, we found that missense variations appear to always be located in the same area (close to the two Zinc Finger domain). We describe new pathogenic GATA3 variants, of which some seem to always be associated with certain conditions. Many audiograms were studied to establish a typical audiometric profile associated with a phenotype in HDR. As mentioned in the literature, hearing function should always be assessed as early as possible and follow up of patients with HDR syndrome should include monitoring of parathyroid function and vesicoureteral reflux in order to prevent complications.
PubMed: 38940299
DOI: 10.1111/cge.14583 -
JACC. Advances Feb 2024Cystatin C, neutrophil gelatinase-associated lipocalin (NGAL), and kidney injury molecule (KIM)-1 are renal biomarkers increasingly appreciated for their role in the...
BACKGROUND
Cystatin C, neutrophil gelatinase-associated lipocalin (NGAL), and kidney injury molecule (KIM)-1 are renal biomarkers increasingly appreciated for their role in the risk stratification and prognostication of heart failure (HF) patients. However, very few have been adopted clinically, owing to the lack of consistency.
OBJECTIVES
The authors aimed to study the association between cystatin C, NGAL, and KIM-1 and outcomes, mortality, hospitalizations, and worsening renal function (WRF) in patients with acute and chronic HF.
METHODS
We included peer-reviewed English-language articles from PubMed and EMBASE published up to December 2021. We analyzed the above associations using random-effects meta-analysis. Publication bias was assessed using funnel plots.
RESULTS
Among 2,631 articles, 100 articles, including 45,428 patients, met the inclusion criteria. Top-tertile of serum cystatin C, when compared to the bottom-tertile, carried a higher pooled hazard ratio (pHR) for mortality (pHR: 1.59, 95% CI: 1.42-1.77) and for the composite outcome of mortality and HF hospitalizations (pHR: 1.49, 95% CI: 1.23-1.75). Top-tertile of serum NGAL had a higher hazard for mortality (pHR: 2.91, 95% CI: 1.49-5.67) and composite outcome (HR: 4.11, 95% CI: 2.69-6.30). Serum and urine NGAL were significantly associated with WRF, with pHRs of 2.40 (95% CI: 1.48-3.90) and 2.01 (95% CI: 1.21-3.35). Urine KIM-1 was significantly associated with WRF (pHR: 1.60, 95% CI: 1.24-2.07) but not with other outcomes. High heterogeneity was noted between studies without an obvious explanation based on meta-regression.
CONCLUSIONS
Serum cystatin C and serum NGAL are independent predictors of adverse outcomes in HF. Serum and urine NGAL are important predictors of WRF in HF.
PubMed: 38939376
DOI: 10.1016/j.jacadv.2023.100765 -
Mayo Clinic Proceedings. Digital Health Jun 2024This study aimed to review the application of natural language processing (NLP) in thyroid-related conditions and to summarize current challenges and potential future...
This study aimed to review the application of natural language processing (NLP) in thyroid-related conditions and to summarize current challenges and potential future directions. We performed a systematic search of databases for studies describing NLP applications in thyroid conditions published in English between January 1, 2012 and November 4, 2022. In addition, we used a snowballing technique to identify studies missed in the initial search or published after our search timeline until April 1, 2023. For included studies, we extracted the NLP method (eg, rule-based, machine learning, deep learning, or hybrid), NLP application (eg, identification, classification, and automation), thyroid condition (eg, thyroid cancer, thyroid nodule, and functional or autoimmune disease), data source (eg, electronic health records, health forums, medical literature databases, or genomic databases), performance metrics, and stages of development. We identified 24 eligible NLP studies focusing on thyroid-related conditions. Deep learning-based methods were the most common (38%), followed by rule-based (21%), and traditional machine learning (21%) methods. Thyroid nodules (54%) and thyroid cancer (29%) were the primary conditions under investigation. Electronic health records were the dominant data source (17/24, 71%), with imaging reports being the most frequently used (15/17, 88%). There is increasing interest in NLP applications for thyroid-related studies, mostly addressing thyroid nodules and using deep learning-based methodologies with limited external validation. However, none of the reviewed NLP applications have reached clinical practice. Several limitations, including inconsistent clinical documentation and model portability, need to be addressed to promote the evaluation and implementation of NLP applications to support patient care in thyroidology.
PubMed: 38938930
DOI: 10.1016/j.mcpdig.2024.03.007 -
Qatar Medical Journal 2024SGLT2 inhibitors are known for their osmotic diuretic effect, and their use by Muslim patients with type 2 diabetes during the fasting month of Ramadan may pose an...
BACKGROUND
SGLT2 inhibitors are known for their osmotic diuretic effect, and their use by Muslim patients with type 2 diabetes during the fasting month of Ramadan may pose an increased risk of volume depletion, potentially impacting renal function.
METHODS
We conducted a systematic review registered on PROSPERO (registration number CRD42020204582) of studies published between 2013 and January 2023, sourced from PubMed, EMBASE, and the Cochrane Central Register of Controlled Trials. The study selection criteria included controlled studies that reported the use of SGLT2 inhibitors (SGLT2i) by fasting adult type 2 diabetes patients and provided data on creatinine or estimated glomerular filtration rate (eGFR) as outcomes.
RESULTS
Two prospective observational studies, encompassing a total of 359 participants, of which 197 utilized SGLT2 inhibitors, were identified. Our findings indicated that the use of SGLT2 inhibitors during Ramadan did not result in a significant alteration in eGFR. In one study by Hassanein et al., the mean changes in eGFR for the SGLT2i group, as compared to the non-SGLT2i group, were -1.2 ± 19.4 and 3.1 ± 14.8, respectively ( = 0.06). In a study by Shao et al., the least squares mean changes for eGFR in the SGLT2i group, compared to the non-SGLT2i group, were -6.0 ± 1.5 (95% CI, -8.9 to -3.1) and -4.2 ± 1.6 (95% CI, -7.3 to -1.1), respectively ( = 0.39).
CONCLUSION
Despite the limited number of observational studies available, our analysis suggests that the use of SGLT2 inhibitors by type 2 diabetes patients during Ramadan does not appear to significantly impact kidney function.
PubMed: 38933780
DOI: 10.5339/qmj.2024.29 -
Healthcare (Basel, Switzerland) Jun 2024Evaluation of post-nephrectomy social health in living kidney donors is essential. This systematic review examines their emotional need for social relatedness... (Review)
Review
INTRODUCTION
Evaluation of post-nephrectomy social health in living kidney donors is essential. This systematic review examines their emotional need for social relatedness post-donation.
METHODS
Following the PRISMA guidelines, we systematically searched Scopus, CINAHL, and PsycINFO.
RESULTS
Among the screened records, 32 quantitative and 16 qualitative papers met the inclusion criteria. Quantitative research predominantly utilized questionnaires featuring generic items on social functioning. However, a minority delved into emotional and social dimensions, aligning with qualitative studies emphasizing the importance of social connection and perceived social support post-donation. Specifically, post-donation changes in connecting with others encompass a sense of belongingness, heightened autonomy, shifts in concern for the recipient's health, and continued care by shielding the recipient from personal health issues. Social acknowledgment and social support from both close and extended networks are reported as relevant for recovery after nephrectomy.
DISCUSSION
These findings underscore the necessity for targeted measures of emotional needs and social functioning to effectively assess post-donation adjustment. They also inform the identification of key health themes for kidney donor Patient-Reported Outcome Measures (PROMs) and Patient-Reported Experience Measures (PREMs) questions.
PubMed: 38921330
DOI: 10.3390/healthcare12121216 -
Annals of the Academy of Medicine,... Dec 2023This systematic review and meta-analysis investigated the impact of intraoperative goal-directed therapy (GDT) compared with conventional fluid therapy on postoperative... (Meta-Analysis)
Meta-Analysis Review
INTRODUCTION
This systematic review and meta-analysis investigated the impact of intraoperative goal-directed therapy (GDT) compared with conventional fluid therapy on postoperative outcomes in renal transplantation recipients, addressing this gap in current literature.
METHOD
A systematic search of patients aged ≥18 years who have undergone single-organ primary renal transplantations up to June 2022 in PubMed, Embase, Scopus and CINAHL Plus was performed. Primary outcome examined was postoperative renal function. Secondary outcomes assessed were mean arterial pressure at graft reperfusion, intraoperative fluid volume and other postoperative complications. Heterogeneity was tested using I² test. The study protocol was registered on PROSPERO.
RESULTS
A total of 2459 studies were identified. Seven eligible studies on 607 patients were included. Subgroup assessments revealed potential renal protective benefits of GDT, with patients receiving cadaveric grafts showing lower serum creatinine on postoperative days 1 and 3, and patients monitored with arterial waveform analysis devices experiencing lower incidences of postoperative haemodialysis. Overall analysis found GDT resulted in lower incidence of tissue oedema (risk ratio [RR] 0.34, 95% CI 0.15-0.78, P=0.01) and respiratory complications (RR 0.39, 95% CI 0.17-0.90, P=0.03). However, quality of data was deemed low given inclusion of non-randomised studies, presence of heterogeneities and inconsistencies in defining outcomes measures.
CONCLUSION
While no definitive conclusions can be ascertained given current limitations, this review highlights potential benefits of using GDT in renal transplantation recipients. It prompts the need for further standardised studies to address limitations discussed in this review.
Topics: Humans; Kidney Transplantation; Fluid Therapy; Postoperative Complications; Edema; Creatinine; Renal Dialysis; Intraoperative Care
PubMed: 38920161
DOI: 10.47102/annals-acadmedsg.202367 -
Transplantation Reviews (Orlando, Fla.) Jun 2024Pancreatic islet transplantation for type 1 diabetes mellitus (T1DM) is efficacious in supressing severe hypoglycaemic episodes (SHE) and restoring glycaemic regulation,... (Review)
Review
BACKGROUND
Pancreatic islet transplantation for type 1 diabetes mellitus (T1DM) is efficacious in supressing severe hypoglycaemic episodes (SHE) and restoring glycaemic regulation, which are both pivotal in increasing health-related quality of life (HRQoL). Therefore, a systematic assessment of reports detailing HRQoL outcomes is warranted to better understand the benefits of islet transplantation. To this end, we performed a systematic review of the literature to assess the impact of islet transplantation on HRQoL in individuals with T1DM, whether as a standalone procedure (ITA) or following renal transplantation (IAK).
METHOD
All studies providing a quantitative assessment of HRQoL following ITA or IAK were included. Selected studies had to meet the following criteria: they had to (i) involve adult recipients of islet grafts for T1DM, (ii) use either generic or disease-specific QoL assessment tools, (iii) provide a comparative analysis of QoL metrics between the pre- and post-transplantation state or between the post-transplantation state and other pre-transplant patients or the general population.
RESULTS
Seven studies that met the inclusion criteria provided data on 205 subjects. In the included studies, HRQoL was measured using both generic instruments, such as the 36-item Short Form Health Survey (SF-36) and the Health Status Questionnaire (HSQ) 2.0, and disease-specific instruments, such as the Diabetes Distress Scale (DDS), the Diabetes Quality of Life Questionnaire, and the Hypoglycaemia Fear Survey (HFS). These instruments cover physical, mental, social, or functional health dimensions. We found that pancreatic islet transplantation was associated with improvements in all HRQoL dimensions compared with the pre-transplant baseline.
CONCLUSIONS
Our systematic review demonstrates that islet transplantation significantly enhances quality of life in individuals with T1DM who are experiencing SHE. To our knowledge, this is the most extensive systematic review conducted to date, evaluating the impact of islet transplantation on HRQoL.
PubMed: 38917621
DOI: 10.1016/j.trre.2024.100870 -
Journal of Vascular and Interventional... Jun 2024To assess the effect of cryoablation on renal function (measured by eGFR or serum creatinine) for treating Stage I renal cancer. (Review)
Review
PURPOSE
To assess the effect of cryoablation on renal function (measured by eGFR or serum creatinine) for treating Stage I renal cancer.
MATERIALS AND METHODS
MEDLINE, EMBASE, and the CENTRAL databases were systematically searched from inception to May 1, 2023. Cohort studies that included data on change of estimated glomerular filtration rate (eGFR) and serum creatinine increase were included. Meta-analysis was performed by measuring the weighted mean difference and by fitting random-effect models.
RESULTS
Overall, 38 studies were included, comprising of 3,202 participants. Percutaneous cryoablation was associated with an absolute eGFFR reduction of -3.06 ml/min/1.73 m (95% CI: -4.12 to -2.01; p-value < 0.001) and serum creatinine increase of 0.05 mg/dl (95% CI: -0.02 to 0.11; p-value> 0.05). The weighted absolute mean difference of percutaneous cryoablation for treating stage T1b renal cell carcinoma was estimated at -5.19 ml/min/1.73 m2 (95% CI: -11.1 to 0.72; p-value > 0.05). Lastly, when analyzing studies that included cohorts with solitary kidneys, the pooled weighted mean difference was estimated as -3.27 ml/min/1.73 m2 (95% CI: -6.79 to 0.25; pvalue >0.05).
CONCLUSIONS
Percutaneous cryoablation for Stage 1 renal cell carcinoma has minimal significant impact on renal function (measured by eGFR or serum creatinine). The same outcome was observed in patients with larger tumors (T1b) and those with solitary kidneys.
PubMed: 38914159
DOI: 10.1016/j.jvir.2024.06.013 -
World Journal of Urology Jun 2024Current potential living kidney donor's assessment includes functional and anatomical evaluation. Scintigraphy is recommended in some cases and some centers include this...
BACKGROUND
Current potential living kidney donor's assessment includes functional and anatomical evaluation. Scintigraphy is recommended in some cases and some centers include this test in the donor's protocol. Recent studies advocate for the avoidance of this test as CT or MRI volumetry showed to accurately assess donor's renal function.
OBJECTIVE
To summarize scientific evidence on image tests for pre-donation and/or post-nephrectomy renal function evaluation.
EVIDENCE ACQUISITION
This review followed the guidelines set by the European Association of Urology and adhered to PRISMA 2020 recommendations. The protocol was registered in PROSPERO on 10th December 2022 (ID: CRD42022379273).
EVIDENCE SYNTHESIS
Twenty-one studies met the inclusion criteria after thorough screening and eligibility assessment. According to QUADAS-2, patient selection and flow/timing domains showed a predominant low risk of bias. The correlation between split renal function (SRF) using CT and scintigraphy varied from weak (r = 0.21) to remarkably strong (r = 0.949). Bland-Altman agreement demonstrated moderate to excellent results, with mean differences ranging from -0.06% to 1.76%. The correlation between split renal volume (CT) and estimated glomerular filtration rate (eGFR) at 6 months or 1 year after nephrectomy showed a moderate correlation, with coefficients ranging from 0.708 to 0.83. The correlation between SRF (MRI) and renal scintigraphy reported a moderate correlation, with correlation coefficients of 0.58 and 0.84. MRI and scintigraphy displayed a good agreement, with a 66% agreement observed and mean differences of ± 0.3%.
CONCLUSIONS
Despite study heterogeneity, MRI or CT-based renal volumetry appears promising compared to scintigraphy, with favorable correlations and agreement.
Topics: Humans; Living Donors; Magnetic Resonance Imaging; Tomography, X-Ray Computed; Radionuclide Imaging; Kidney Transplantation; Nephrectomy; Kidney; Kidney Function Tests; Tissue and Organ Harvesting
PubMed: 38904679
DOI: 10.1007/s00345-024-05024-y -
The Cochrane Database of Systematic... Jun 2024Peritoneal dialysis (PD) and haemodialysis (HD) are two possible modalities for people with kidney failure commencing dialysis. Only a few randomised controlled trials... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Peritoneal dialysis (PD) and haemodialysis (HD) are two possible modalities for people with kidney failure commencing dialysis. Only a few randomised controlled trials (RCTs) have evaluated PD versus HD. The benefits and harms of the two modalities remain uncertain. This review includes both RCTs and non-randomised studies of interventions (NRSIs).
OBJECTIVES
To evaluate the benefits and harms of PD, compared to HD, in people with kidney failure initiating dialysis.
SEARCH METHODS
We searched the Cochrane Kidney and Transplant Register of Studies from 2000 to June 2024 using search terms relevant to this review. Studies in the Register were identified through searches of CENTRAL, MEDLINE, and EMBASE, conference proceedings, the International Clinical Trials Registry Platform (ICTRP) Search Portal, and ClinicalTrials.gov. MEDLINE and EMBASE were searched for NRSIs from 2000 until 28 March 2023.
SELECTION CRITERIA
RCTs and NRSIs evaluating PD compared to HD in people initiating dialysis were eligible.
DATA COLLECTION AND ANALYSIS
Two investigators independently assessed if the studies were eligible and then extracted data. Risk of bias was assessed using standard Cochrane methods, and relevant outcomes were extracted for each report. The primary outcome was residual kidney function (RKF). Secondary outcomes included all-cause, cardiovascular and infection-related death, infection, cardiovascular disease, hospitalisation, technique survival, life participation and fatigue.
MAIN RESULTS
A total of 153 reports of 84 studies (2 RCTs, 82 NRSIs) were included. Studies varied widely in design (small single-centre studies to international registry analyses) and in the included populations (broad inclusion criteria versus restricted to more specific participants). Additionally, treatment delivery (e.g. automated versus continuous ambulatory PD, HD with catheter versus arteriovenous fistula or graft, in-centre versus home HD) and duration of follow-up varied widely. The two included RCTs were deemed to be at high risk of bias in terms of blinding participants and personnel and blinding outcome assessment for outcomes pertaining to quality of life. However, most other criteria were assessed as low risk of bias for both studies. Although the risk of bias (Newcastle-Ottawa Scale) was generally low for most NRSIs, studies were at risk of selection bias and residual confounding due to the constraints of the observational study design. In children, there may be little or no difference between HD and PD on all-cause death (6 studies, 5752 participants: RR 0.81, 95% CI 0.62 to 1.07; I = 28%; low certainty) and cardiovascular death (3 studies, 7073 participants: RR 1.23, 95% CI 0.58 to 2.59; I = 29%; low certainty), and was unclear for infection-related death (4 studies, 7451 participants: RR 0.98, 95% CI 0.39 to 2.46; I = 56%; very low certainty). In adults, compared with HD, PD had an uncertain effect on RKF (mL/min/1.73 m) at six months (2 studies, 146 participants: MD 0.90, 95% CI 0.23 to 3.60; I = 82%; very low certainty), 12 months (3 studies, 606 participants: MD 1.21, 95% CI -0.01 to 2.43; I = 81%; very low certainty) and 24 months (3 studies, 334 participants: MD 0.71, 95% CI -0.02 to 1.48; I = 72%; very low certainty). PD had uncertain effects on residual urine volume at 12 months (3 studies, 253 participants: MD 344.10 mL/day, 95% CI 168.70 to 519.49; I = 69%; very low certainty). PD may reduce the risk of RKF loss (3 studies, 2834 participants: RR 0.55, 95% CI 0.44 to 0.68; I = 17%; low certainty). Compared with HD, PD had uncertain effects on all-cause death (42 studies, 700,093 participants: RR 0.87, 95% CI 0.77 to 0.98; I = 99%; very low certainty). In an analysis restricted to RCTs, PD may reduce the risk of all-cause death (2 studies, 1120 participants: RR 0.53, 95% CI 0.32 to 0.86; I = 0%; moderate certainty). PD had uncertain effects on both cardiovascular (21 studies, 68,492 participants: RR 0.96, 95% CI 0.78 to 1.19; I = 92%) and infection-related death (17 studies, 116,333 participants: RR 0.90, 95% CI 0.57 to 1.42; I = 98%) (both very low certainty). Compared with HD, PD had uncertain effects on the number of patients experiencing bacteraemia/bloodstream infection (2 studies, 2582 participants: RR 0.34, 95% CI 0.10 to 1.18; I = 68%) and the number of patients experiencing infection episodes (3 studies, 277 participants: RR 1.23, 95% CI 0.93 to 1.62; I = 20%) (both very low certainty). PD may reduce the number of bacteraemia/bloodstream infection episodes (2 studies, 2637 participants: RR 0.44, 95% CI 0.27 to 0.71; I = 24%; low certainty). Compared with HD; It is uncertain whether PD reduces the risk of acute myocardial infarction (4 studies, 110,850 participants: RR 0.90, 95% CI 0.74 to 1.10; I = 55%), coronary artery disease (3 studies, 5826 participants: RR 0.95, 95% CI 0.46 to 1.97; I = 62%); ischaemic heart disease (2 studies, 58,374 participants: RR 0.86, 95% CI 0.57 to 1.28; I = 95%), congestive heart failure (3 studies, 49,511 participants: RR 1.10, 95% CI 0.54 to 2.21; I = 89%) and stroke (4 studies, 102,542 participants: RR 0.94, 95% CI 0.90 to 0.99; I = 0%) because of low to very low certainty evidence. Compared with HD, PD had uncertain effects on the number of patients experiencing hospitalisation (4 studies, 3282 participants: RR 0.90, 95% CI 0.62 to 1.30; I = 97%) and all-cause hospitalisation events (4 studies, 42,582 participants: RR 1.02, 95% CI 0.81 to 1.29; I = 91%) (very low certainty). None of the included studies reported specifically on life participation or fatigue. However, two studies evaluated employment. Compared with HD, PD had uncertain effects on employment at one year (2 studies, 593 participants: RR 0.83, 95% CI 0.20 to 3.43; I = 97%; very low certainty).
AUTHORS' CONCLUSIONS
The comparative effectiveness of PD and HD on the preservation of RKF, all-cause and cause-specific death risk, the incidence of bacteraemia, other vascular complications (e.g. stroke, cardiovascular events) and patient-reported outcomes (e.g. life participation and fatigue) are uncertain, based on data obtained mostly from NRSIs, as only two RCTs were included.
Topics: Humans; Peritoneal Dialysis; Renal Dialysis; Randomized Controlled Trials as Topic; Bias; Kidney Failure, Chronic; Quality of Life; Adult; Cause of Death; Middle Aged; Observational Studies as Topic
PubMed: 38899545
DOI: 10.1002/14651858.CD013800.pub2