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BackgroundWolcott-Rallison syndrome (WRS) is a very rare autosomal recessive disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure. Fewer than 60 cases have been reported to date. Most patients are from consanguineous families. Prevalence may therefore vary significantly between countries. WRS may be underdiagnosed because of early death before diagnosis.Case Report(s)We present a case of an 8-month-old girl, a product of consanguineous parents from Pakistan, who has been diagnosed with a rare genetic condition i.e., Wolcott Rallison syndrome. She presented for the first time at the age of 3 months with a history of fever, cough, and difficulty breathing for 2 days. On examination, she was tachypneic and had acidotic breathing. In addition, she had syndromic facies in the form of microcephaly and a depressed nasal bridge. Her investigations were consistent with diabetic ketoacidosis (DKA) so she was managed as DKA. During her hospital stay, she also had a few episodes of seizures which were managed accordingly. After the resolution of DKA, she was switched to a subcutaneous insulin regimen. Meanwhile, she was followed in OPD, and her parents were counseled for the genetic workup of monogenic diabetes although her Islet cell antibodies were weak positive while the rest were negative. A skeletal survey was also done. She was not achieving her developmental milestones according to age. Her genetic workup revealed a homozygous nonsense mutation (c.3193C>T,p.Ag1065Ter) in the EIF2AK3 gene, which represents Wolcott Rallison syndrome. The management of this disorder includes close therapeutic monitoring of diabetes and treatment with an insulin pump, especially in the first months of life, due to the risk of acute episodes of hypoglycemia. The patient with WRS needs frequent checkups to monitor kidney and liver function, adjust insulin treatment, and follow-ups by a multidisciplinary team of specialists.Conclusion(s)In conclusion, this case report highlights the significance of genetic workup and the importance of considering WRS in patients with early-onset diabetes, especially those below 6 months of age. Although, in a resource-limited country like Pakistan, it is very difficult to get the genetic workup of a child due to the financial burden on the family and poverty, it is the key to the diagnosis of monogenic diabetes. Early diagnosis and treatment improve the overall outcome of the disease.

Obtaining informed consent from patients prior to a medical or surgical procedure is a fundamental part of safe and ethical clinical practice. Currently, it is routine for a significant part of the consent process to be delegated to members of the clinical team not performing the procedure (eg, junior doctors). However, it is common for consent-taking delegates to lack sufficient time and clinical knowledge to adequately promote patient autonomy and informed decision-making. Such problems might be addressed in a number of ways. One possible solution to this clinical dilemma is through the use of conversational artificial intelligence using large language models (LLMs). There is considerable interest in the potential benefits of such models in medicine. For delegated procedural consent, LLM could improve patients’ access to the relevant procedural information and therefore enhance informed decision-making.In this paper, we first outline a hypothetical example of delegation of consent to LLMs prior to surgery. We then discuss existing clinical guidelines for consent delegation and some of the ways in which current practice may fail to meet the ethical purposes of informed consent. We outline and discuss the ethical implications of delegating consent to LLMs in medicine concluding that at least in certain clinical situations, the benefits of LLMs potentially far outweigh those of current practices.

Women are dramatically underrepresented in legislative bodies, and most scholars agree that the greatest limiting factor is the lack of female candidates (supply). However, voters' subconscious biases (demand) may also play a role, particularly among conservatives. We designed an original field experiment to test whether messages from party leaders can affect women's electoral success. The experimental treatments involved messages from a state Republican Party chair to the leaders of 1,842 precinct-level caucus meetings. We find that party leaders' efforts to stoke both supply and demand (and especially both together) increase the number of women elected as delegates to the statewide nominating convention. We replicate this finding in a survey experiment with a national sample of validated Republican primary election voters (N = 2,897). Our results suggest that simple interventions from party leaders can affect the behavior of candidates and voters and ultimately lead to a substantial increase in women's descriptive representation.

Planning a mini conference in the time of Covid-19 has presented many challenges, but we were fortunate to be able to offer a face-to-face event. Our venue was large, so we were able to set it up to follow social distancing protocols. We also had a COVID plan in place and all delegates had to complete a contact form. Delegates travelled from all corners of Tasmania, including Flinders Island.

State prescription drug monitoring programs (PDMPs) aim to reduce risky controlled-substance prescribing, but early programs had limited impact. Several states implemented robust features in 2012-13, such as mandates that prescribers register with the program and regularly check its registry database. Some states allow prescribers to fulfill the latter requirement by designating delegates to check the registry. The effects of robust PDMP features have not been fully assessed. We used commercial claims data to examine the effects of implementing robust PDMPs in four states on overall and high-risk opioid prescribing, comparing those results to trends in similar states without robust PDMPs. By the end of 2014 the absolute mean morphine-equivalent dosages that providers dispensed declined in a range of 6-77 mg per person per quarter in the four states, relative to comparison states. Only in one of the four states, Kentucky, did the percentage of people who filled opioid prescriptions decline versus its comparator state, with an absolute reduction of 1.6 percent by the end of 2014. Robust PDMPs may be able to significantly reduce opioid dosages dispensed, percentages of patients receiving opioids, and high-risk prescribing.

The series of papers in this issue of AMBIO represent technical presentations made at the 7th International Phosphorus Workshop (IPW7), held in September, 2013 in Uppsala, Sweden. At that meeting, the 150 delegates were involved in round table discussions on major, predetermined themes facing the management of agricultural phosphorus (P) for optimum production goals with minimal water quality impairment. The six themes were (1) P management in a changing world; (2) transport pathways of P from soil to water; (3) monitoring, modeling, and communication; (4) importance of manure and agricultural production systems for P management; (5) identification of appropriate mitigation measures for reduction of P loss; and (6) implementation of mitigation strategies to reduce P loss. This paper details the major challenges and research needs that were identified for each theme and identifies a future roadmap for catchment management that cost-effectively minimizes P loss from agricultural activities.

BackgroundThe relationship between diabetes and dental caries remains uncertain, so it is important to assess potential risk associations in specific populations where local factors may influence the disease trajectory. Here we quantified dental caries in children and adolescents with and without uncontrolled diabetes to examine whether poorly-controlled diabetes influences caries prevalence and severity.Aim of StudyTo examine whether poorly-controlled diabetes influences caries prevalence and severityMethodsThis was a case-control study of children and adolescents with uncontrolled diabetes and age-matched controls attending pediatric clinics at Sheikh Shakhbout Medical City, Abu Dhabi, UAE. Dental caries was diagnosed by visual examination and dental probing following WHO guidelines to derive DMFT/DMFS indices. Differences in caries metrics between subjects with diabetes and controls were assessed using chi-squared tests or the Mann Whitney U test.ResultsFifty-seven children and adolescents without diabetes and 42 children and adolescents with poorly-controlled (HbA1c≥7.5) diabetes were recruited. Overall, the median (IQR) DMFT index was 4 (5) (moderate) and the DMFS index was 4 (11). There were no significant differences in DMFT% [14.0 (21.5) vs.13.0 (20.0); p = 0.602], DMFT index [4 (5) vs. 3 (6); p = 0.749], nor DMFS index [5 (12) vs. 4 (11); p = 0.484] between diabetic patients and controls, respectively.Conclusion(s)This is the first study of the relationship between diabetes and dental caries conducted in the UAE. Diabetes either has no effect on caries risk or its effect is so small that it can be masked by other dominant risk factors such as diet and obesity that still require addressing through coordinated public health measures.

BackgroundInsulin deficiency secondary to pancreatic beta cell dysfunction ' worsening with age has been reported in Turner syndrome (TS) ' is usually more commonly associated to treatment with GH or sex hormones. Autoimmune endocrinopathy in TS seems to be limited mostly to autoimmune thyroiditis, celiac disease, inflammatory bowel disease ' juvenile rheumatoid arthritis. Type1 diabetes has been rarely reported.Case Report(s)13 10/12 yr old girl with severe growth retardation was admitted to hospital with complaint of polyuria ' polydipsia for the last 2 weeks. Three days before hospitalization abdominal pain ' vomiting were started. Her investigations revealed blood sugar 588 mg/dl, PH 6.8, HCO3 3 meq/L, blood ketones 3 positives, HbA1c 12.8, C- peptide very low, anti- GAD ' anti – ICA antibodies were positives. Diagnosis of diabetic ketoacidosis was made ' started management protocol. After stabilization, further evaluation of the patient showed height 127 cm (- 5 SD), weight 32 kg (- 2.8), webbed neck, cubitus valgus, shielded chest, tanner stage 1 ' birth marks of hypopigmented streaks ' patches all over the body appeared to be hypomelanosis of Ito which has an association with chromosomal abnormalities. LH ' FSH elevated, estradiol < 5 pg/ml, bon age 11 4/12 yrs, normal TFT ' celiac screen, negative anti –TPO ' anti – Tg antibodies, normal renal ultrasound ' echo study. Karyotype revealed 45 XO. Diagnosis of Turner syndrome was made. Six months later, the patient started on GH therapy with gradual increment of the dose ' the insulin requirement increased accordingly. After one year, the patient gained 7.4 cm in height. At age of 15 4/12 yrs, conjugated estrogen started at a dose of 0.3 mg every other day.Conclusion(s)Association of TS to autoimmunity is however widely known. Therefore, it is proposed that all patients with TS should be investigated for diabetes ' the clinician must keep in mind the risks of metabolic complications when GH therapy applied in the presence of diabetes, but also aware that the treatment will improve their final height.

BackgroundCongenital lipodystrophy is an exceedingly rare genetic disorder with an estimated worldwide prevalence of less than 1 case per million individuals. Four distinct genetic mutations underlie congenital lipodystrophy, including AGPAT2, BSCL2, CAV1, and PTRF genes. This condition is Characterized by the near absence of subcutaneous adipose tissue, resulting in fat deposition in internal organs such as the liver. It leads to cirrhosis and metabolic disturbances, including hypertriglyceridemia and insulin resistance, often precipitating early-onset diabetes mellitus. We report a case of congenital lipodystrophy with a focus on the management of severe diabetes with insulin resistance.Case Report(s)Our patient is a 14-year-old female with congenital lipodystrophy, initially manifesting as hypertriglyceridemia with normal blood glucose levels. Subsequently, at 14 years of age she experienced irregular menstrual periods and worsening acanthosis nigricans. Continuous glucose monitoring over two weeks revealed consistently elevated fasting and postprandial blood glucose readings. Physical examination demonstrated a muscular appearance, generalized lipoatrophy, enlarged hands and feet, hirsutism, and prominent acanthosis nigricans on the neck and flexor folds. Laboratory findings indicated an elevated hemoglobin A1c of 7.7% and hypertriglyceridemia.Treatment was initiated with insulin, metformin, and dietary modifications, eventually necessitating high insulin doses, including insulin Lantus (60 Units daily) and insulin Lispro (35 Units with meals thrice daily). Subsequently, metreleptin therapy was introduced, resulting in improved glycemic control, with blood glucose levels stabilizing between 70 and 150 mg/dl, allowing for the discontinuation of insulin therapy.Conclusion(s)Congenital lipodystrophy poses a rare and complex challenge, often complicated by severe diabetes due to insulin resistance. Metreleptin emerges as an effective therapeutic option for managing diabetes in these patients. As a recombinant analog of the human hormone leptin, metreleptin offers promising outcomes in glycemic control and warrants consideration in the management of congenital lipodystrophy-related diabetes.

BackgroundDiabetic ketoacidosis (DKA) is considered as a serious complication of type 1 diabetes mellitus in pediatrics. Severe dyslipidemia in DKA is a rare eventualityCase Report(s)We report on a 10-year-old female presented with severe DKA. The serum was lipemic with severe hypertriglyceridemia and hypercholesterolemia. Laboratory workup: the values of glycemia, sodium and HbA1c were misleading; a method of dilution was used to obtain the correct values. Triglyceride and cholesterol returned gradually to normal levels only with the management of DKA without any complicationConclusion(s)Mild dyslipidemia is a common feature in DKA, but severe dyslipidemia is a very rare event whose pathophysiology is not completely elucidated. It needs close surveillance because it might be responsible for acute pancreatitis and lipidemia retinalis.