Onset Of Type Research Articles

REVEALS—a longitudinal cohort study of multifaceted respiratory assessment in ALS

Objective To systematically assess decline in respiratory measures in amyotrophic lateral sclerosis (ALS) and to examine the impact of sex, disease onset type and baseline morbidity on progression. Methods The REVEALS study (Registry of Endpoints and Validated Experiences in ALS) was conducted between April 2018 and February 2021 in six European ALS centers. Slow and forced vital capacity (S/FVC), sniff nasal inspiratory pressure (SNIP), peak cough flow, amyotrophic lateral sclerosis functional rating scale-revised (ALSFRS-R), and respiratory morbidity were collected. Data were analyzed using a Bayesian multiple outcomes random effects model. Results Two hundred and eighty participants had a median of three assessments (IQR 2.0, 5.0) over a median of 8 months (IQR 2.3, 14.1). There were 974 data collection timepoints. Differences in respiratory measures and rates of decline between disease-onset and sex subgroups were identified. Females had lower scores in all respiratory measures and females with bulbar onset ALS had faster decline compared with other sub-groups. These differences were not detected by the ALSFRS-r respiratory subscale. Dyspnea, orthopnea, and a higher King’s stage at baseline were associated with lower respiratory scores throughout follow-up, while having a regular productive cough at baseline was associated with lower peak cough flow scores. Conclusion Respiratory function declines more quickly in females with ALS compared with males when measured by FVC, SVC, SNIP, or PCF, but not the ALSFRS-R respiratory sub-score. Higher baseline King’s staging and the presence of clinical respiratory symptoms at baseline were associated with worse respiratory function. The ALSFRS-R respiratory sub-score is poorly correlated with objective respiratory measurements.

Outcomes of Bypass Surgery in Adult Moyamoya Disease by Onset Type

Moyamoya disease (MMD) is a rare chronic cerebrovascular disease, and the outcomes of bypass management in adult patients remain controversial. To categorize adult MMD based on asymptomatic, ischemic, and hemorrhagic onset and compare the outcomes (death, hemorrhagic stroke [HS], and ischemic stroke [IS]) of bypass surgery (direct or indirect) with those of conservative management. This retrospective, nationwide, population-based longitudinal cohort study used Korean National Health Insurance Research data to identify adults (aged ≥15 years) with MMD who were diagnosed between January 1, 2008, and December 31, 2020, and followed up until December 31, 2021 (median follow-up, 5.74 [IQR, 2.95-9.42] years). A total of 19 700 participants (3194 with hemorrhagic, 517 with ischemic, and 15 989 with asymptomatic MMD) were included. Data were analyzed from January 2 to April 1, 2023. Bypass surgery and conservative management. Death constituted the primary outcome; secondary outcomes consisted of HS or IS. Kaplan-Meier survival curve and Cox proportional hazards regression analysis were applied. The propensity score-matching and stratified analyses were performed to control covariate effects. A total of 19 700 patients (mean [SD] age, 45.43 [14.98] years; 12 766 [64.8%] female) were included. Compared with conservative management, bypass was associated with a reduced risk of death (adjusted hazard ratio [AHR], 0.50 [95% CI, 0.41-0.61]; P < .001) and HS (AHR, 0.36 [0.30-0.40]; P < .001) in hemorrhagic MMD; reduced risk of IS (AHR, 0.55 [95% CI, 0.37-0.81]; P = .002) in ischemic MMD; and reduced risk of death (AHR, 0.74 [95% CI, 0.66-0.84]; P < .001) in asymptomatic MMD. However, bypass was associated with an increased risk of HS (AHR, 1.76 [95% CI, 1.56-2.00]; P < .001) in asymptomatic MMD. Both direct and indirect bypass demonstrated similar effects in hemorrhagic and asymptomatic MMD, except only direct bypass was associated with a reduced risk of IS (AHR, 0.52 [95% CI, 0.33- 0.83]; P = .01) in ischemic MMD. After stratification, bypass was associated with a reduced risk of death in patients younger than 55 years with ischemic (AHR, 0.34 [95% CI, 0.13- 0.88]; P = .03) and asymptomatic (AHR, 0.69 [95% CI, 0.60-0.79]; P < .001) MMD, but an increased risk of HS in patients 55 years or older with ischemic MMD (AHR, 2.13 [95% CI, 1.1-4.16]; P = .03). The findings of this cohort study of bypass outcomes for patients with MMD emphasize the importance of tailoring management strategies in adult patients based on onset types.

A Case Report of a Patient with Pyruvate Carboxylase Deficiency

Background: Pyruvate carboxylase catalyzes the carboxylation of pyruvate to oxaloacetate, a crucial intermediate of the tricarboxylic acid (TCA) cycle and the initial step in converting pyruvate to glucose (gluconeogenesis). Pyruvate carboxylase deficiency is a rare metabolic disorder characterized by lactic acidosis, failure to thrive, development delay, and recurrent seizures at an early age in severely affected patients. The onset and severity of pyruvate carboxylase deficiency have been classified as severe neonatal (type B), usually fatal, less severe infantile (type A), compatible with survival but with impaired neurologic development, and milder, later onset (type C) with some residual impairment. Clinical manifestations include hypotonia, mixed hypertonia, ataxia, choreoathetosis, microcephaly, and other signs of impaired white matter development. Case Report: A 7-day-old baby with a birth weight of 3kg, born to related parents, presented with clinical symptoms such as lethargy, poor feeding, and grunting since birth. Additionally, he experienced a drop in O2 saturation and cyanosis during his hospitalization. Test results revealed lactic acidosis and hyperammonemia. Furthermore, serum amino acids chromatography- HPLC indicated an increase in lysine and citrulline. The patient succumbed after 16 days due to multi-organ damage. Genetic analysis identified pyruvate carboxylase enzyme deficiency. Conclusion: Pyruvate carboxylase deficiency is a rare inborn error of metabolism that can lead to developmental delay and failure to thrive, typically beginning in the neonatal or early infantile period. The possibility of pyruvate carboxylase deficiency should be considered in any child presenting with lactic acidosis and neurological abnormalities, particularly if associated with hypoglycemia, hyperammonemia, or ketosis.

Incidence of new onset type 1 diabetes in children during the covid-19 global pandemic

Incidence of new onset type 1 diabetes in children during the covid-19 global pandemic

Thoracal meningioma and neurological status recovery 6 months postoperative: A case report

Introduction: Meningioma is the most common intradural tumor of the spinal cord in adults. Spinal meningioma arises from slow-growing arachnoid cap cells, which are generally located intradural extramedullary and grow laterally into the subarachnoid space to stretch the surrounding arachnoid. Local pain is usually the first major symptom. However, the majority of cases are diagnosed after the onset of neurological deficits or impaired walking. Case Presentation: Woman, 46 years old, with back pain radiating to both legs in the last 2 years before surgery. At 16 months before surgery, she had paralysis of both legs with bowel and bladder incontinence. Preoperative physical examination shows no muscle contraction on both lower extremities, with hypoesthesia in the Thoracal 2 dermatome. MRI examination shows intradural extramedullary mass at the level of the 2nd thoracal that compresses the entire spinal canal. Laminectomy surgery on thoracal 2 and tumor resection in toto were performed. Surgical resection showed a tumor mass of 2x1,2x1cm with a thick, spongy, brownish-yellow consistency. Histopathological examination shows psammomatous type meningioma, WHO Grade 1. The patient was discharged postoperatively with palpable muscle contractions on both legs, accompanied by no sensory abnormalities. Evaluation 1 month postoperatively, the patient was able to voluntarily move the lower extremities accompanied by the return of ability to micturate and defecate. Examination at 6 months postoperatively, the patient was able to walk without assistance and no other neurological deficit was found. Conclusion: Tumor resection remains as treatment of choice for spinal meningioma regardless of neurological deficit onset and histological type of tumor.

Influencing factors of length of stay among repeatedly hospitalized patients with mood disorders: a longitudinal study in China

BackgroundPatients with mood disorders usually require repeated and prolonged hospitalization, resulting in a heavy burden on healthcare resources. This study aims to identify variables associated with length of stay(LOS) of repeatedly hospitalized patients with mood disorders and to provide information for optimizing psychiatry management and healthcare resource allocation.MethodsElectronic medical records (EMRs) of repeatedly hospitalized patients with mood disorders from January 2010 to December 2018 were collected and retrospectively analyzed. Chi-square and t-test were adopted to investigate the differences in characteristics between the two groups of short LOS and long LOS. Generalized estimating equation (GEE) was conducted to investigate potential factors influencing LOS.ResultsA total of 2,009 repeatedly hospitalized patients with mood disorders were enrolled, of which 797 (39.7%) had a long LOS and 1,212 (60.3%) had a short LOS. Adverse effects of treatment, continuous clinical manifestation, chronic onset type, suicide attempt, comorbidity and use of antidepressants were positively associated with long LOS among all repeatedly hospitalized patients with mood disorders (P < 0.050). For patients with depression, factors associated with long LOS consisted of age, monthly income, adverse effects of treatment, continuous clinical manifestation, suicide attempt and comorbidity (P < 0.050). Whereas, for patients with bipolar disorder (BD), adverse effects of treatment, four or more hospitalizations and use of antidepressants contributed to the long LOS (P < 0.050). Influencing factors of LOS also vary among patients with different effectiveness of treatment.ConclusionThe LOS in repeatedly hospitalized patients with mood disorders was influenced by multiple factors. There were discrepancies in the factors affecting LOS in patients with different diagnoses and effectiveness of treatment, and specific factors should be addressed when evaluating the LOS.

Stroke Events and Risk Factors in Older Patients with Moyamoya Disease

We aimed to comprehensively analyze the epidemiology, natural history, stroke events and their risk factors, and the RNF213 p.Arg4810Lys variant in older patients with moyamoya disease (MMD). We enrolled patients with MMD followed-up at our hospital between 2000 and 2023. Those who developed MMD at age ≥60years or were diagnosed at a younger age and followed-up after age 60years were included. Baseline characteristics, onset type, radiologic features, and RNF213 p.Arg4810Lys variant status were investigated. Among 56 patients with 100 affected hemispheres, 62 were asymptomatic, 26 experienced ischemic onset, and 12 had hemorrhagic onset. A higher incidence of anterior choroidal artery (AchA) dilatation and lower proportion of favorable modified Rankin scale scores were detected in hemorrhagic onset, whereas greater prevalence of bypass surgery in ischemic onset. Of 76 asymptomatic hemispheres at the age of 60years, subsequent stroke events occurred in 10 hemispheres, comprising 8 hemorrhages and 2 ischemias. Risk factors for de novo hemorrhage in asymptomatic hemispheres included AchA dilatation and choroidal anastomosis. Comparison of the RNF213 p.Arg4810Lys variant status showed no significant differences in baseline characteristics, onset types, or imaging findings, except for a higher percentage of patients in the GA group with a family history of MMD. Hemorrhagic events were the most prevalent and prognostically deteriorating factors in older patients with MMD aged ≥60years. AchA dilatation and choroidal anastomosis were predictors of de novo hemorrhage in asymptomatic nonsurgical hemispheres in older patients with MMD.

Complications during Adolescence Predict Mortality in Young Adults with Childhood Onset Type 1 Diabetes

Objective. Microvascular complications increase the risk of cardiovascular disease and premature death in adults with type 1 diabetes. We examined the association between microvascular complications during adolescence, including cardiac autonomic nerve dysfunction and subsequent mortality. Research Design and Methods. We undertook data linkage with the Australian National Death Index in a cohort of 409 adolescents (diagnosed between 1973 and 1993), 48% male, median age at final complications assessment 17.4 years (interquartile range: 16.0–18.9), followed longitudinally for median 22.3 years (21.0–23.4) from diagnosis. Generalized estimating equations (GEE) were used to examine associations between mortality and adolescent complications. Mortality risk was calculated as standardized mortality ratio (SMR). Results. At final adolescent visit, 20% had CAN abnormality, 30% abnormal pupillary response, 20% albuminuria, 40% early elevation of albumin excretion rate (AER) and 45% retinopathy. Data linkage 8–13 years later showed 14 were deceased (3% of cohort), 57% male, median age 28.3 years (24.8–32.9). Acute or chronic diabetes complications accounted for 25% of deaths. In multivariable GEE, elevated AER (OR 4.54, 1.23–16.80, p=0.030), pupillary abnormality (OR 4.27, 1.20–15.22, p=0.023), systolic blood pressure SDS (OR 2.17, 1.26–3.74, p=0.005) and CAN (OR 4.65, 1.03–21.0, p=0.045) predicted mortality. HbA1c was not significant. SMR was 2.5 (1.4–4.2) and was higher in females (SMR 3.5, 1.3–7.8) but not in males (SMR 2.1, 0.9–4.0). Conclusion. Mortality in young adults with type 1 diabetes is predicted by subclinical markers of autonomic neuropathy and elevated AER during adolescence, but not glycemia. Mortality was over twice that of the background population in females but not in males.

Psychiatric Manifestations in Children and Adolescents with Inherited Metabolic Diseases.

Background: Inherited metabolic disorders (IEMs) can be represented in children and adolescents by psychiatric disorders. The early diagnosis of IEMs is crucial for clinical outcome and treatment. The aim of this review is to analyze the most recurrent and specific psychiatric features related to IEMs in pediatrics, based on the onset type and psychiatric phenotypes. Methods: Following the PRISMA Statement, a systematic literature review was performed using a predefined algorithm to find suitable publications in scientific databases of interest. After removing duplicates and screening titles and abstracts, suitable papers were analyzed and screened for inclusion and exclusion criteria. Finally, the data of interest were retrieved from the remaining articles. Results: The results of this study are reported by type of symptoms onset (acute and chronic) and by possible psychiatric features related to IEMs. Psychiatric phenomenology has been grouped into five main clinical manifestations: mood and anxiety disorders; schizophrenia-spectrum disorders; catatonia; eating disorders; and self-injurious behaviors. Conclusions: The inclusion of a variety of psychiatric manifestations in children and adolescents with different IEMs is a key strength of this study, which allowed us to explore the facets of seemingly different disorders in depth, avoiding possible misdiagnoses, with the related delay of early and appropriate treatments.

Can a consensus occur on a research case definition for ME/CFS?

ABSTRACT Introduction: Many controversies have emerged around developing a consensus on a research case definition for ME and ME/CFS. To determine if there might be a consensus among patients, healthcare workers, and researchers, a brief questionnaire was distributed to an international group of patients to assess key issues involving ME and ME/CFS case definitions. Method: Respondents were asked questions about core symptoms and other critical case definition issues. Results: Overall, post-exertional malaise, cognitive impairment, fatigue, and unrefreshing sleep were the most endorsed core symptoms with at least 80% consensus among participants. Considerable support occurred for the ME-ICC (Myalgic Encephalomyelitis-International Consensus Criteria) and the Canadian Consensus Criteria (CCC), whereas the Fukuda Criteria received the least support. Items rated as important for a research case definition included the severity of the illness, onset type, duration of illness, illness course, exclusions, and comorbidities. Conclusions: The implications of these findings for developing a consensus on research case definition criteria are discussed.

A patient diagnosed with new-onset type 1 diabetes and Addison's disease at initial presentation.

A previously healthy 17-year-old female presented to the emergency department with complaints of vomiting, shortness of breath, and tachycardia. She was found to have an elevated blood glucose and was admitted for presumed new onset type 1 diabetes mellitus (T1DM). During the admission, she was noted to have frequent episodes of hypoglycemia despite conservative insulin dosing and high urine output with glucosuria, which seemed out of proportion to her glucose levels and fluid status. She also had persistent hyponatremia despite normalization of blood glucose. Further work-up was initiated to investigate alternative or additional diagnoses to explain these atypical findings. Adrenocorticotropic hormone (ACTH) level was elevated, consistent with the diagnosis of Addison's disease, which led to the subsequent diagnosis of autoimmune polyglandular syndrome type II (APS-2). This is one of the first reports in the literature of concurrent diagnosis of T1DM and Addison's disease at initial presentation and demonstrates the importance of not anchoring to one diagnosis. This case shows the importance of considering multiple diagnoses and investigating atypical signs and symptoms. This case highlights the importance of a thorough history including review of systems. Hyponatremia and recurrent hypoglycemia in a person with type 1 diabetes should raise suspicion for adrenal insufficiency. This case makes us consider the screening for Addison's disease in a person with new onset type 1 diabetes in addition to autoimmune thyroid disease and celiac disease. People with an autoimmune disease should be monitored for other autoimmune diseases in the future.

Seizures as Initial Presentation and Enduring Predisposition to Seizures in Autoimmune Encephalitis

Purpose. This retrospective study is aimed at investigating the clinical characteristics of autoimmune encephalitis (AE) and long-term prognosis of patients who initially present with seizures as well as risk factors for enduring predisposition to seizures in AE. Methods. From January 1, 2013, to October 31, 2021, a total of 343 AE patients from a single center diagnosed with autoimmune encephalitis (AE) were enrolled in this study, including 198 antibody-positive AE and 145 antibody-negative but probable AE. According to initial symptoms, AE patients were divided into two groups: onset with seizure group and onset with nonseizure group. The clinical characteristics were retrospectively reviewed. Patients were clinically evaluated at onset and at 6, 12, and 24 months of follow-up. Modified Rankin Scale (MRS) score, Clinical Assessment Scale in Autoimmune Encephalitis (CASE) score, and seizure-related information were assessed. Results. In AE, patients with seizures as the first presentation were younger, with a median-onset age of 28 years old. Compared with other types of antibody-positive AE, anti-GABABR AE more frequently began with seizures, while anti-CASPR2, anti-AMPAR, and anti-DPPX encephalitis usually began with symptoms other than seizures. The most common type of initial seizures in AE was focal to bilateral seizure (67.6%), with a significant prevalence in antibody-positive AE (P=0.001). In addition, compared with nonseizure group, patients with seizures as an initial presentation had higher MRS and CASE scores at 24 months of follow-up. Older age at onset and focal nonmotor seizure type were independent risk factors for an enduring predisposition to seizures in AE patients. Conclusion. The younger and anti-GABABR-positive AE patients are more prone to onset with seizures. AE patients who initially presented with seizures had worse long-term neurological recovery. Onset age and seizure type should be highly appreciated when formulating the strategy for therapy at post-AE status.

Guideline for standardized approach in the treatment of the Mal de Debarquement syndrome.

Mal de Debarquement Syndrome (MdDS) is a debilitating neuro-otological disorder. Patients experience almost continuously a perception of self-motion. This syndrome can be motion-triggered (MT-MdDS), such as on a boat, or occur spontaneously or have other triggers (SO-MdDS) in the absence of such motion. Because the pathophysiological mechanism is unknown, treatment options and symptom management strategies are limited. One available treatment protocol involves a readaptation of the vestibular ocular reflex (VOR). This study assesses the effectiveness of vestibulo-ocular reflex (VOR) readaptation in 131 consecutive patients with a fixed protocol. We administered 131 treatments involving optokinetic stimulation (OKS) paired with a fixed head roll at 0.167 Hz over two to five consecutive days. Each day, four-minute treatment blocks were scheduled twice in the morning and afternoon. Treatment effectiveness was evaluated through questionnaires and posturography. We observed significant improvements in the visual analog scale (VAS), MdDS symptom questionnaire, and posturography measures from pre- to post-treatment. No significant differences were found in outcome variables between MT- and SO-MdDS onsets. Symptoms improved subjectively and objectively in patients' post-treatment. The overall success rate was 64.1%, with no significant difference between MT (64.2%) and SO (63.3%). This study supports the conclusion that VOR readaptation treatment provides relief for two-thirds of MdDS patients, irrespective of the onset type. Based on consistency in the findings, we propose a standardized method for treatment of MdDS based on the OKS with head roll paradigm.

Prognostic factors of tumefactive demyelinating lesions and differential features for multiple sclerosis in etiology

BackgroundMany different pathologies may underlie tumefactive demyelinating lesions. Identifying clinical and radiologic distinguishing features before pathologic examination is essential for diagnosis and treatment. In this study, we aimed to determine the clinical and radiologic features affecting the etiology and disease course of patients with tumefactive lesions (TDL). Materials and MethodsWe included 35 clinicoradiologically or histologically diagnosed TDL patients in our center over 11 years. Patient records were retrospectively evaluated and recorded. Clinical features, cerebral neuroimaging, and histologic biopsy preparations, if any, were assessed by three independent neurologists, two neuroradiologists, and two pathologists at admission and follow-up, respectively. ResultsThe mean age of patients with TDL was 40.02±14.40 years. Symptom onset was 15 (1–365) days. The most common complaints at initial presentation were hemiparesis or hemiplegia, sensory complaints, and cognitive impairment (aphasia or apraxia). The lesions were most commonly localized in the frontal lobe (42.9 %). Mass effect was 17.1 %, edema 60 %, diffusion restriction 62.1 %, and contrast enhancement 71.9 % (mostly ring-shaped (68.8 %)) on MR images. Acute onset and OCB type-2 positivity were associated with MS diagnosis. On the other hand, CSF protein levels above 45 mg/dL were found to be related to non-MS etiologies. Only the predominance of aphasia or apraxia at onset was a risk factor for early high disability (EDSS>4; 3rd month). Subacute-chronic onset, being older than 40 years, or having brainstem symptoms at onset were independent risk factors for late high disability (2nd year). ConclusionAcute onset or OCB type 2 positivity is a clue for early diagnosis of MS, while elevated CSF protein is a clue for demyelinating diseases other than MS. Presentation with cognitive dysfunction at onset is an independent risk factor for early disability, while age above 40 years, subacute-chronic presentation and brainstem findings at presentation are independent risk factors for late disability.

Community credit scores and community socioeconomic deprivation in association with type 2 diabetes across an urban to rural spectrum in Pennsylvania: a case–control study

BackgroundArea-level credit scores (the mean of credit scores for persons in a community) may be a unique indicator of community-level socioeconomic conditions associated with health outcomes. We analysed community credit...

Decline in case rates of youth onset type 2 diabetes in year three of the COVID-19 pandemic.

To determine changes in case rates of youth onset type 2 diabetes in the three years following the COVID-19 pandemic. A single-center, retrospective medical record review was conducted for patients newly diagnosed with T2D between 3/1/18 and 2/28/23 at a pediatric tertiary care center. The number of patients referred to CHLA with a T2D diagnosis date between 3/1/2020 and 2/28/2023 was compared to historical rates between 3/1/2018 and 2/29/2020. χ2 or Fisher's exact test was used to compare categorical variables between each year and 2019. Compared to prepandemic baseline (3/1/19-2/29/20, 11.8±3.7 cases/month), there was a significant increase in new T2D monthly case rates in pandemic year 1 (3/1/20-2/28/21, 20.1±6.0 cases/month, 171 %, p=0.005) and pandemic year 2 (3/1/21-2/28/22, 25.9±8.9 cases/month, 221 %, p=0.002). Case rates declined in pandemic year 3 to 14.5±4.1 cases/month (3/1/22-2/28/23, p=0.43). Compared to prepandemic year 1, the frequency of DKA at diagnosis was higher in pandemic year 1 (13.3 vs. 5.0 %, p=0.009). The DKA rate in pandemic years 2 (6.8 %) and 3 (3.4 %) were comparable to prepandemic year 1 (p=0.53 and 0.58, respectively). Youth onset type 2 diabetes cases and DKA rates in year 3 of the pandemic have returned to prepandemic level.

Clinical prognostic factors predicting survival of motor neuron disease patients with gastrostomy: A retrospective analysis.

Enteral feeding via gastrostomy is a key intervention to prevent significant weight loss in Motor Neuron Disease (MND). The aim of this study was to explore demographic, clinical, and nutritional factors associated with survival time in MND patients with gastrostomy. The retrospective study analyzed 94 MND patients (n = 58 bulbar-onset and n = 36 limb-onset) who underwent gastrostomy between 2015 and 2021. The primary outcome was the survival time from gastrostomy insertion to death. Independent variables of interest explored were: age at gastrostomy insertion, disease onset type, known genetic cause, use of riluzole, non-invasive ventilation (NIV) use, forced vital capacity prior to gastrostomy, weight loss from diagnosis to gastrostomy insertion, and body mass index (BMI) at the time of gastrostomy insertion. The median survival time from gastrostomy to death was 357 days (± 29.3, 95%CI: 299.5, 414.5). Kaplan-Meier method and log-rank test revealed patients with lower body mass index <18.5 kg/m2 at the time of gastrostomy insertion (p = .023) had shorter survival. Cox proportional hazards model with multivariable adjustment revealed that older age (p = .008), and greater weight loss from diagnosis to gastrostomy (p = .003) were associated with shorter survival time post gastrostomy. Limb onset (p = .023), NIV use not being required (p = .008) and daily NIV use when required and tolerated (p = .033) were associated with longer survival. Preventing or minimizing weight loss from MND diagnosis and encouraging NIV use when clinically indicated are modifiable factors that may prolong the survival of MND patients with gastrostomy.

Translation of a Diabetes Remission Service into Australian Primary Care: Findings from the Evaluation of DiRECT-Australia.

The Diabetes Remission Clinical Trial (DiRECT) study demonstrated that an intensive and structured weight management program in UK primary care resulted in high rates of diabetes remission in adults with recent onset type 2 diabetes mellitus (T2DM). This study was aimed at evaluating the translation of the DiRECT intervention into an Australian primary care setting. All patients enrolled in the DiRECT-Australia Type 2 Diabetes Remission Service in a region of Sydney (Macarthur region, South Western Sydney, Australia) were included. Eligible participants were aged 20-70 years, noninsulin treated, with T2DM of ≤6 years' duration, and body mass index (BMI) ≥ 27 kg/m2. Total diet replacement of 825-853 kcal/day using meal replacements was implemented for 12 weeks, followed by an ongoing structured program until 52 weeks, with regular follow-up with a general practitioner, dietitian, and/or practice nurse. Of 39 recruited participants, 32 (82.1%) and 27 (69.2%) completed 12 weeks and 52 weeks of the structured program, respectively. Decrease in weight by -12.0 kg (95% CI: -9.6, -14.4; p < 0.001) and -9.1 kg (95% CI: -5.2, -12.9; p < 0.001) and decrease in glycated haemoglobin (HbA1c) by -1.1% (95% CI: -0.6, -1.6; p < 0.001) and -0.6% (95% CI: -0.1, -1.1; p = 0.013) were observed at 12 and 52 weeks, respectively. At the end of 12 and 52 weeks, 93.8% (30/32) and 55.6% (15/27) of those with follow-up data met the criteria for diabetes remission, respectively. Quality of life and wellbeing scores increased over the course of 12 weeks, remaining significantly higher at 52 weeks. Participants reported they would be willing to pay A$92.50 (95% CI: A$75.80, A$109.30) per fortnight for the low-calorie meal replacement shakes. These findings support the feasibility of a structured diabetes remission service in an Australian primary care setting to achieve improvements in glycaemia, weight, and quality of life and wellbeing, and suggest a substantial willingness to pay for diet replacement products among participants.

A qualitative study of the perceptions and experiences of participants and healthcare professionals in the DiRECT-Australia type 2 diabetes remission service.

The UK Diabetes Remission Clinical Trial (DiRECT) study was replicated in an Australian primary care setting. This qualitative study aimed to explore and understand the perceptions and experiences of both participants and healthcare professionals (HCPs) involved in the DiRECT-Australia Type 2 Diabetes Remission Service. All participants and HCPs delivering the service were invited to participate in semi-structured interviews via online videoconferencing. The interview guides explored perceptions and experiences in DiRECT-Australia, covering aspects such as barriers and facilitators to recruitment and participation, motivations and challenges across service phases, adequacy of support provided and the overall acceptability of the service. All interviews were audio-recorded, transcribed verbatim and analysed using thematic analysis. Eight DiRECT-Australia participants and six HCPs (three general practitioners, two practice nurses and one dietitian) participated. Four overarching themes were identified: (1) Enablers and barriers to recruitment and continuous participation in DiRECT-Australia; (2) Motivators and overcoming barriers across the total diet replacement, food reintroduction and weight maintenance phases; (3) Importance of participant-HCP interactions and continuous support; (4) Acceptance and long-term need for DiRECT-Australia. Adherence to total diet replacement was less challenging than anticipated by participants. Transitioning to the food reintroduction phase was difficult but overcome through HCP support. DiRECT-Australia was well accepted by both participants and HCPs, and participants expressed willingness to continue with the service, if provided on a long-term basis. Both participants and HCPs were highly interested in the new diabetes remission service set up in an Australian primary care setting. The acceptability of DiRECT-Australia was underscored by participants emphasising the effectiveness of the service in achieving significant weight loss and diabetes remission. There is a need for long-term and wider implementation of the service to ensure that anyone with recent onset type 2 diabetes is offered the best possible chance to achieve remission.

Long-term clinical sequelae and socio-professional performance in craniopharyngioma patients.

Craniopharyngioma (CP) is a rare tumor, leading to several post-treatment sequelae which may have significant clinical and social implications, including impaired academic performance or employability. We conducted a retrospective study involving CP patients followed at our center between 1986 and 2020. Data on demographics, clinical, imaging, and treatment characteristics were collected from the clinical records. There were 33 patients (current mean age of 49.8±18.7 years), being 22 diagnosed in adulthood. The average follow-up duration was 16.03±9.3 years. Twelve patients were treated with surgery alone, while 21 underwent surgery and radiotherapy. Pituitary and hypothalamic deficits were more frequent in treated with surgery, whereas visual defects and metabolic diseases were more frequent in treated with surgery and radiotherapy. There were no differences between age of onset groups and type of sequelae. After diagnosis, nine patients concluded their academic training. In childhood-onset group, after diagnosis, one patient was retired, three continue studying and the others concluded schooling. In the other group, six patients were retired and two concluded schooling. There was no association between academic performance or employability and the type of treatment. CP patients academic performance was not worse comparing with general Portuguese population. Long-term sequelae may not be related with the age of CP onset, but may vary according to the type of treatment. There was a wide variety of clinical sequelae with extended follow-up, however academic performance and employability seemed not affected. CP diagnosis in an early period of life may not compromise the academic success of patients.