scholarly journals Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11

2021 ◽  
Author(s):  
Thomas I Hewat ◽  
Daphne Yau ◽  
Joseph C. S. Jerome ◽  
Thomas W Laver ◽  
Jayne A L Houghton ◽  
...  
Keyword(s):  
Birth Weight ◽  
Clinical Features ◽  
Katp Channel ◽  
Roc Analysis ◽  
Clinical Care ◽  
Area Under The Curve ◽  
Congenital Hyperinsulinism ◽  
Unknown Aetiology ◽  
Routine Clinical Care ◽  
Roc Area

Objective Mutations in the KATP channel genes, ABCC8 and KCNJ11, are the most common cause of congenital hyperinsulinism. The diagnosis of KATP-hyperinsulinism is important for the clinical management of the condition. We aimed to determine the clinical features that help to identify KATP-hyperinsulinism at diagnosis. Design We studied 761 individuals with KATP-hyperinsulinism and 862 probands with hyperinsulinism of unknown aetiology diagnosed before 6 months of age. All were referred as part of routine clinical care. Methods We compared the clinical features of KATP-hyperinsulinism and unknown hyperinsulinism cases. We performed logistic regression and ROC analysis to identify the features that predict KATP-hyperinsulinism. Results Higher birth weight, diazoxide unresponsiveness and diagnosis in the first week of life were independently associated with KATP-hyperinsulinism (adjusted Odds Ratio 4.5 (95% CI, 3.4-5.9), 0.09 (0.06-0.13) and 3.3 (2.0- 5.0) respectively). Birth weight and diazoxide unresponsiveness were additive and highly discriminatory for identifying KATP-hyperinsulinism (ROC area under the curve for birth weight 0.80, diazoxide responsiveness 0.77, and together 0.88, 95% CI 0.85-0.90). 86% born large for gestation and 78% born appropriate for gestation who did not respond to diazoxide treatment had KATP-hyperinsulinism. In contrast, of those individuals born small for gestation, none who were diazoxide responsive and only 4% of those who were diazoxide unresponsive had KATP-hyperinsulinism. Conclusions Individuals with hyperinsulinism born appropriate or large for gestation and unresponsive to diazoxide treatment are most likely to have an ABCC8 or KCNJ11 mutation. These patients should be prioritised for genetic testing for KATP channel genes.

scholarly journals Syndromic Monogenic Diabetes Genes Should be Tested in Patients With a Clinical Suspicion of MODY

2021 ◽  
Author(s):  
Kevin Colclough ◽  
Sian Ellard ◽  
Andrew Hattersley ◽  
Kashyap Patel
Keyword(s):  
Genetic Testing ◽  
Clinical Features ◽  
Clinical Care ◽  
Monogenic Diabetes ◽  
Clinical Suspicion ◽  
Genetic Syndrome ◽  
Routine Clinical Care ◽  
Common Causes ◽  
Diabetes Gene ◽  
Diabetes Patients

At present, outside of infancy, genetic testing for monogenic diabetes is typically for mutations in MODY genes that predominantly result in isolated diabetes. Monogenic diabetes syndromes are usually only tested when this is supported by specific syndromic clinical features. It is not known how frequently patients with suspected MODY have a mutation in a monogenic syndromic diabetes gene and thus missed by present testing regimes. We performed<b> </b>genetic testing of 27 monogenic diabetes genes (including 18 associated with syndromic diabetes) for 1280 patients with a clinical suspicion of MODY from routine clinical care that were not suspected of having monogenic syndromic diabetes. We confirmed monogenic diabetes in 297 (23%) patients. Mutations in 7 different syndromic diabetes genes accounted for 19% (95%CI 15-24%) of all monogenic diabetes. The mitochondrial m.3243A>G and mutations in <i>HNF1B</i> were responsible for the majority of mutations in syndromic diabetes genes. They were also the 4<sup>th</sup> and 5<sup>th</sup> most common causes of monogenic diabetes overall. These patients lacked typical features and their diabetes phenotypes overlapped with non-syndromic monogenic diabetes patients. Syndromic monogenic diabetes genes (particularly m.3243A>G and <i>HNF1B</i>) should be routinely tested in patients with suspected MODY that do not have typical features of a genetic syndrome.

scholarly journals Syndromic Monogenic Diabetes Genes Should be Tested in Patients With a Clinical Suspicion of MODY

2021 ◽  
Author(s):  
Kevin Colclough ◽  
Sian Ellard ◽  
Andrew Hattersley ◽  
Kashyap Patel
Keyword(s):  
Genetic Testing ◽  
Clinical Features ◽  
Clinical Care ◽  
Monogenic Diabetes ◽  
Clinical Suspicion ◽  
Genetic Syndrome ◽  
Routine Clinical Care ◽  
Common Causes ◽  
Diabetes Gene ◽  
Diabetes Patients

At present, outside of infancy, genetic testing for monogenic diabetes is typically for mutations in MODY genes that predominantly result in isolated diabetes. Monogenic diabetes syndromes are usually only tested when this is supported by specific syndromic clinical features. It is not known how frequently patients with suspected MODY have a mutation in a monogenic syndromic diabetes gene and thus missed by present testing regimes. We performed<b> </b>genetic testing of 27 monogenic diabetes genes (including 18 associated with syndromic diabetes) for 1280 patients with a clinical suspicion of MODY from routine clinical care that were not suspected of having monogenic syndromic diabetes. We confirmed monogenic diabetes in 297 (23%) patients. Mutations in 7 different syndromic diabetes genes accounted for 19% (95%CI 15-24%) of all monogenic diabetes. The mitochondrial m.3243A>G and mutations in <i>HNF1B</i> were responsible for the majority of mutations in syndromic diabetes genes. They were also the 4<sup>th</sup> and 5<sup>th</sup> most common causes of monogenic diabetes overall. These patients lacked typical features and their diabetes phenotypes overlapped with non-syndromic monogenic diabetes patients. Syndromic monogenic diabetes genes (particularly m.3243A>G and <i>HNF1B</i>) should be routinely tested in patients with suspected MODY that do not have typical features of a genetic syndrome.

Prognostic value of neutrophil-to-lymphocyte ratio (NLR) in intestinal neuroendocrine tumors: An analysis of the U.S. Neuroendocrine Tumor Study Group.

2018 ◽  
Vol 36 (4_suppl) ◽  
pp. 694-694 ◽  
Author(s):  
Bradley A. Krasnick ◽  
Jesse T Davidson ◽  
Roheena Z. Panni ◽  
Martha McGilvray ◽  
Jorge Zarate Rodriguez ◽  
...  
Keyword(s):  
Neuroendocrine Tumors ◽  
Roc Analysis ◽  
Survival Curve ◽  
Univariate Analysis ◽  
Area Under The Curve ◽  
Study Group ◽  
Ki 67 ◽  
Kaplan Meier ◽  
Number Of Patients ◽  
Roc Area

694 Background: Intestinal neuroendocrine tumors (NETs) can often be indolent, with survival commonly exceeding 10 years. However, a subset can be more aggressive. The search for a prognostic test based on preoperative lab results would be of benefit. An elevated NLR has been found to be predictive of diminished overall survival (OS) in several cancers, and we hypothesized that this same trend would hold true for intestinal NETs. Methods: Utilizing the 8 member institutions of the retrospective U.S. NET Study Group, patients undergoing resection of intestinal NETs were included. After excluding patients undergoing emergent surgery, those with preoperative sepsis or distant mets, and those with missing neutrophil/lymphocyte lab values, 281 patients were included for analysis. The cutoff values for NLR were determined using receiver operator curve (ROC) analysis. Univariate analysis was performed based on these groups. A Kaplan-Meier survival curve was created based off optimal NLR from ROC analysis. OS was calculated as date of surgery to date of death/ last follow-up. SPSS 23.0 was used for analysis. Results: Of the 281 patients identified, 9% were appendiceal, 9% colonic, 21% duodenal, 5% rectal, and 56% jejunal/ileal. Using a NLR of >2.47, the ROC area under the curve was 0.609 ( p=0.002). Median survival for the 130 patients in the <2.47 group was 159.8 months, versus 115.63 months in the ≥2.47 group (p =0.009). When comparing the NLR <2.47 and ≥2.47 groups, mean age (57.5 vs. 59.0 years, respectively, p=0.642), ASA status (89% ASA 2 /3 in both groups, p=0.314), tumor Ki-67 status (Ki-67>3% in 30% vs. 26%, respectively, p=0.57), and post-op complications (36 vs. 42%, respectively, p=0.310) were similar between groups. A significantly greater number of patients in the NLR high group had positive lymph nodes (60 vs. 47%, p =0.002). Conclusions: For patients undergoing curative resection of intestinal NETs with no distant mets, a preoperative NLR of ≥2.47 was significantly predictive of decreased OS, with those in the elevated NLR group having an OS 3.7 years less than those in the <2.47 group. Future prospective data is warranted to further validate these findings.

Treatment of painful bone metastases in prostate and breast cancer patients with the therapeutic radiopharmaceutical rhenium-188-HEDP

2016 ◽  
Vol 55 (05) ◽  
pp. 188-195 ◽  
Author(s):  
Floor Overbeek ◽  
John de Klerk ◽  
Pieternel Pasker-de Jong ◽  
Alexandra van den Berk ◽  
Rob ter Heine ◽  
...  
Keyword(s):  
Bone Metastases ◽  
Clinical Benefit ◽  
Response Rate ◽  
Clinical Care ◽  
Pain Response ◽  
Pain Palliation ◽  
Breast Cancer Patients ◽  
Routine Clinical Care ◽  
Painful Bone Metastases

Summary Aim: Rhenium-188-HEDP (188Re-HEDP) is an effective radiopharmaceutical for the palliative treatment of osteoblastic bone metastases. However, only limited data on its routine use are available and its effect on quality of life (QoL) has not been studied. Therefore, we evaluated the clinical benefit of 188Re-HEDP in routine clinical care. Patients and methods: Prostate or breast cancer patients with painful bone metastases receiving 188Re-HEDP as a routine clinical procedure were eligible for evaluation. Clinical benefit was assessed in terms of efficacy and toxicity. Pain palliation and QoL were monitored using the visual analogue scale (VAS), corrected for opioid intake, and the EORTC QLQ-C30 Global health status/QoL-scale. Thrombocyte and leukocyte nadirs were used to assess haematological toxicity. Results: 45 and 47 patients were evaluable for pain palliation and QoL, respectively. After a single injection of 188Re-HEDP, the overall pain response rate was 69% and mean VAS-scores decreased relevantly and significantly (p < 0.05). Repeated treatment resulted in similar pain response. The overall QoL response rate was 68% and mean Global health status/QoL-scores increased relevantly and significantly. Haematological side effects were mild and transient. Conclusion: The clinically relevant response on pain and quality of life and the limited adverse events prove clinical benefit of treatment with 188Re-HEDP and support its use in routine clinical care. Its effectiveness appears comparable to that of external beam radiotherapy.

Interpersonal Psychotherapy for the Treatment of Eating Disorders

2010 ◽  
pp. 347-372 ◽  
Author(s):  
Marian Tanofsky-Kraff ◽  
Denise E. Wilfley
Keyword(s):  
Anorexia Nervosa ◽  
Clinical Care ◽  
Interpersonal Psychotherapy ◽  
Future Research ◽  
Cognitive Behavior ◽  
Research Directions ◽  
Routine Clinical Care ◽  
Interpersonal Factors ◽  
Future Research Directions

Interpersonal psychotherapy (IPT) is a focused, time-limited treatment that targets interpersonal problem(s) associated with the onset and/or maintenance of EDs. IPT is supported by substantial empirical evidence documenting the role of interpersonal factors in the onset and maintenance of EDs. IPT is a viable alternative to cognitive behavior therapy for the treatment of bulimia nervosa and binge eating disorder. The effectiveness of IPT for the treatment of anorexia nervosa requires further investigation. The utility of IPT for the prevention of obesity is currently being explored. Future research directions include enhancing the delivery of IPT for EDs, increasing the availability of IPT in routine clinical care settings, exploring IPT adolescent and parent–child adaptations, and developing IPT for the prevention of eating and weight-related problems that may promote full-syndrome EDs or obesity.

scholarly journals Disease monitoring of biologic treatment in IBD: early impact and future implications of COVID-19 pandemic

2020 ◽  
pp. flgastro-2020-101563
Author(s):  
Stephanie Shields ◽  
Allan Dunlop ◽  
John Paul Seenan ◽  
Jonathan Macdonald
Keyword(s):  
Clinical Care ◽  
Chronic Illnesses ◽  
Therapeutic Drug ◽  
Disease Monitoring ◽  
Biologic Treatment ◽  
Faecal Calprotectin ◽  
Routine Clinical Care ◽  
Risk Of Disease ◽  
Inflammatory Bowel ◽  
The Impact

COVID-19 has dominated life in 2020 with, at the time of writing, over 4.9M global cases and >320 000 deaths. The impact has been most intensely felt in acute and critical care environments. However, with most UK elective work postponed, laboratory testing of faecal calprotectin halted due to potential risk of viral transmission and non-emergency endoscopies and surgeries cancelled, the secondary impact on chronic illnesses such as inflammatory bowel disease (IBD) is becoming apparent. Data from the Scottish Biologic Therapeutic Drug Monitoring (TDM) service shows a dramatic drop in TDM testing since the pandemic onset. April 2020 saw a 75.6% reduction in adalimumab testing and a 36.2% reduction in infliximab testing when compared with February 2020 data, a reduction coinciding with the widespread cancellation of outpatient and elective activity. It is feared that disruption to normal patterns of care and disease monitoring of biologic patients could increase the risk of disease flare and adverse clinical outcomes. Urgent changes in clinical practice have been instigated to mitigate the effects of the pandemic on routine clinical care. Further transformations are needed to maintain safe, effective, patient-centred IBD care in the future.

Quality of Life for Children with Persistent Sinonasal Symptoms

2003 ◽  
Vol 128 (1) ◽  
pp. 17-26 ◽  
Author(s):  
David J. Kay ◽  
Richard M. Rosenfeld
Keyword(s):  
Quality Of Life ◽  
Clinical Care ◽  
Longitudinal Change ◽  
Good Test ◽  
Routine Clinical Care ◽  
Before And After ◽  
The Mean ◽  
The Individual ◽  
Sinonasal Symptoms

OBJECTIVE: The goal was to validate the SN-5 survey as a measure of longitudinal change in health-related quality of life (HRQoL) for children with persistent sinonasal symptoms. DESIGN AND SETTING: We conducted a before and after study of 85 children aged 2 to 12 years in a metropolitan pediatric otolaryngology practice. Caregivers completed the SN-5 survey at entry and at least 4 weeks later. The survey included 5 symptom-cluster items covering the domains of sinus infection, nasal obstruction, allergy symptoms, emotional distress, and activity limitations. RESULTS: Good test-retest reliability ( R = 0.70) was obtained for the overall SN-5 score and the individual survey items ( R ≥ 0.58). The mean baseline SN-5 score was 3.8 (SD, 1.0) of a maximum of 7.0, with higher scores indicating poorer HRQoL. All SN-5 items had adequate correlation ( R ≥ 0.36) with external constructs. The mean change in SN-5 score after routine clinical care was 0.88 (SD, 1.19) with an effect size of 0.74 indicating good responsiveness to longitudinal change. The change scores correlated appropriately with changes in related external constructs ( R ≥ 0.42). CONCLUSIONS: The SN-5 is a valid, reliable, and responsive measure of HRQoL for children with persistent sinonasal symptoms, suitable for use in outcomes studies and routine clinical care.

scholarly journals Incorporation of Medicare Annual Wellness Visits into the Routine Clinical Care of Nursing Home Residents

2020 ◽  
Author(s):  
Milta O. Little ◽  
Angela M. Sanford ◽  
Theodore K. Malmstrom ◽  
Christina Traber ◽  
John E. Morley
Keyword(s):  
Nursing Home ◽  
Clinical Care ◽  
Nursing Home Residents ◽  
Routine Clinical Care
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