Inflammatory bowel disease in Hermansky-Pudlak syndrome: a retrospective single-centre cohort study.

BACKGROUND: Knowledge about inflammatory bowel disease (IBD) in patients with Hermansky-Pudlak syndrome (HPS), a rare autosomal recessive disorder characterized by defective biogenesis of lysosome-related organelles, could provide insights into IBD in general. OBJECTIVE: To expand the understanding of IBD in patients with HPS. METHODS: Retrospective review of records from patients with HPS evaluated at the National Institutes of Health Clinical Center from 1995 to 2019 was conducted. Clinical features of IBD, genotyping results and histologic findings of colectomy specimens were analysed. RESULTS: IBD affected 37 (14.2%; 12 male, 25 female) of 261 patients with HPS. Median age of onset was 17 years; range was 1 to 52 years. The most common symptoms of HPS IBD were hematochezia, abdominal pain and loose stools. Fistulae or extra-intestinal manifestations developed in 30% or 22%, respectively. Genotyping showed that patients with biallelic variants in HPS1, HPS3, HPS4 or HPS6 were diagnosed with IBD. Six children had very early-onset IBD. Patients with HPS-3 had mild manifestations of IBD. Medical therapy and bowel resection were utilized to treat 73% and 35% of patients with HPS IBD, respectively; 7 of 13 patients receiving anti-tumor necrosis factor alpha therapy had prolonged clinical responses. Active cryptitis, chronic inflammatory changes, granulomas and ceroid lipofuscinosis were histopathologic findings in three colectomy specimens. CONCLUSIONS: IBD resembling Crohn's disease affects some patients with HPS; genetic heterogeneity is a feature of HPS IBD. HPS3 is a new gene associated with human IBD. Very early-onset IBD can develop in HPS.

Reported gum disease as a cardiovascular risk factor in adults with intellectual disabilities.

BACKGROUND: Several risk factors for cardiovascular disease (CVD) have been identified among adults with intellectual disabilities (ID). Periodontitis has been reported to increase the risk of developing a CVD in the general population. Given that individuals with ID have been reported to have a higher prevalence of poor oral health than the general population, the purpose of this study was to determine whether adults with ID with informant reported gum disease present greater reported CVD than those who do not have reported gum disease and whether gum disease can be considered a risk factor for CVD. METHODS: Using baseline data from the Longitudinal Health and Intellectual Disability Study from which informant survey data were collected, 128 participants with reported gum disease and 1252 subjects without reported gum disease were identified. A series of univariate logistic regressions was conducted to identify potential confounding factors for a multiple logistic regression. RESULTS: The series of univariate logistic regressions identified age, Down syndrome, hypercholesterolemia, hypertension, reported gum disease, daily consumption of fruits and vegetables and the addition of table salt as significant risk factors for reported CVD. When the significant factors from the univariate logistic regression were included in the multiple logistic analysis, reported gum disease remained as an independent risk factor for reported CVD after adjusting for the remaining risk factors. Compared with the adults with ID without reported gum disease, adults in the gum disease group demonstrated a significantly higher prevalence of reported CVD (19.5% vs. 9.7%; P = .001). CONCLUSION: After controlling for other risk factors, reported gum disease among adults with ID may be associated with a higher risk of CVD. However, further research that also includes clinical indices of periodontal disease and CVD for this population is needed to determine if there is a causal relationship between gum disease and CVD.

Miliary tuberculosis: sonographic pattern in chest ultrasound.

Miliary tuberculosis (TB) is characterized by a multitude of small nodular opacities on chest radiography. Despite ultrasound of the chest gaining wider acceptance as a diagnostic tool of lung infections, sonographic changes of pulmonary miliary TB have not yet been reported. Here, we describe B-lines and comet-tail artifacts disseminated throughout multiple lung areas and a pattern of sub-pleural granularity as consistent changes seen in lung ultrasound of ten patients with pulmonary miliary TB diagnosed by chest radiography.

Individual, parent and social-environmental correlates of caregiving experiences among parents of adults with autism spectrum disorder.

INTRODUCTION: Compared to parents of adults with other types of disabilities, parents of adults with autism spectrum disorder (ASD) experience worse well-being. Thus, it is crucial to identify the individual, parent and social-environmental correlates of caregiving experiences among parents of adults with ASD. METHOD: For this study, 130 parents of adults with ASD responded to a survey about caregiving satisfaction, self-efficacy and burden. RESULTS: Greater future planning and community involvement related to more caregiving satisfaction and increased caregiving self-efficacy, respectively. Less choicemaking of the adult with ASD related to greater caregiving satisfaction and self-efficacy. Maladaptive behaviours and poor health of the adult with ASD related to greater caregiving burden. CONCLUSIONS: Implications for policymakers, practitioners and future research are discussed.

Use of snacks in insulin-treated people with diabetes mellitus and association with HbA1c , weight and quality of life: a cross sectional study.

AIM: Insulin therapies with prandial injections offer the possibility to skip snacks or omit meals. It is unclear how many people with insulin-treated diabetes mellitus eat snacks and whether they snack for their own comfort or only on the recommendation of healthcare professionals. METHODS: In 2004, 163 consecutive people with insulin-treated diabetes seen in a university outpatient department were interviewed regarding their diet and degree of satisfaction with their meals. Fifty-five had Type 1 diabetes [age 47 years; diabetes duration 18 years; BMI 27 kg/m(2) ; HbA1c 62 mmol/mol (7.8%)], 53 had Type 2 diabetes with biphasic insulin therapy [age 68 years; diabetes duration 17 years; BMI 31 kg/m(2) ; HbA1c 60 mmol/mol (7.6%)] and 55 had Type 2 diabetes with prandial insulin therapy [age 60 years; diabetes duration 16 years; BMI 33 kg/m(2) ; HbA1c 59 mmol/mol (7.6%)]. RESULTS: Eighty per cent of those with Type 1 diabetes ate snacks, together with 77% of the Type 2 diabetes/biphasic group and 62% of the Type 2 diabetes/prandial group. Most participants (91% Type 1 diabetes, 88% Type 2 diabetes/biphasic group, 82% Type 2 diabetes/prandial group) liked to have snacks. The time at which they ate snacks was the same for both diabetes types. There were no differences between participants with Type 1 diabetes who snacked and those who did not in terms of age (P = 0.350), BMI (P = 0.368), HbA1c (P = 0.257) and time since diagnosis (P = 0.846). Participants with Type 2 diabetes who ate snacks were older than those who did not (biphasic: P = 0.006; prandial: P = 0.008). There were no differences in terms of BMI (biphasic: P = 0.731; prandial: P = 0.393), HbA1c (biphasic: P = 0.747; prandial: P = 0.616) and time since diagnosis (biphasic: P = 0.06; prandial: P = 0.620). CONCLUSIONS: Most people with insulin-treated diabetes eat snacks voluntarily and not because of physicians' instructions. There were no correlations between the use of snacks and HbA1c , BMI and time since diagnosis, except that the participants with Type 2 diabetes who ate snacks were older.

Healthcare utilization of people with type 2 diabetes in Germany: an analysis based on health insurance data.

AIMS: This population-based study assesses the healthcare utilization of people with Type 2 diabetes by analysing routine data from Allgemeine Orts-Krankenkasse (AOK), the largest statutory health insurance provider in Germany. METHODS: Anonymized billing data from all AOK-insured persons with at least one day of insurance during the evaluation year 2010 were analysed. Treatment and cost data from all areas of inpatient and outpatient care were available, as was information regarding patient age and sex. International Classification of Diseases (ICD-10) diagnosis and Anatomical Therapeutic Chemical (ATC) classification were used to identify 2.7 million insured persons with diabetes. RESULTS: The age- and sex-standardized prevalence of Type 2 diabetes was 9.8%. Of those patients identified, 33.9% had at least one diabetes-related complication and 83.0% had a diagnosis of hypertension. Almost two-thirds (63.1%) received antihyperglycaemic medication. Metformin and sulfonylurea were prescribed most often; medications without proof of benefit in endpoint studies were prescribed much less frequently. People without diabetes were admitted to hospital only half as often as those with Type 2 diabetes. The projected total expenditure in Germany for all people with Type 2 diabetes amounted to approximately €33.3 billion in 2010. CONCLUSIONS: This study shows an increase in both the prevalence of diabetes and treatment costs. The majority of people with Type 2 diabetes were aged 70 years or older. One third of this group has diabetes-related complications. Antihyperglycaemic medications without proof of benefit in endpoint studies were prescribed much less frequently than drugs with proof of benefit.

Obesity and associated factors in adults with intellectual disability.

BACKGROUND: We examined the prevalence of obesity in adults with intellectual disabilities (ID) compared with the general population, and the factors associated with obesity and weight management status, comparing individuals with ID who were overweight or obese to those who were not. METHODS: We analysed baseline data (n = 1450) from the ongoing 4-year Longitudinal Health and Intellectual Disabilities Study (LHIDS) using a multivariate approach. Measures included body mass index (BMI), demographics, level of ID, diagnoses related to ID, health behaviours (i.e. physical activity, dietary habits, smoking, and alcohol consumption), various health parameters (e.g. mobility limitation, medications), and residential type and location. RESULTS: Compared with the general population, adults (≥ 18 years) with ID had a higher prevalence of obesity (38.3% vs. 28%) and morbid obesity (7.4% vs. 4.2%). Being female (AOR = 1.40, 95% CI = 1.09-1.81), having Down syndrome (AOR = 2.53, 95% CI = 1.86-3.45), taking medications that cause weight gain (AOR = 1.80, 95% CI = 1.38-2.37), engaging in less moderate physical activity (AOR = 0.89, 95% CI = 0.79-0.99), and drinking greater amounts of soda (AOR = 1.20, 95% CI = 1.02-1.42) were associated with higher rates of obesity. CONCLUSION: Adults with ID, in general, have a high risk of developing obesity, and women with ID have a high risk of developing morbid obesity. Health promotion initiatives should target individuals with the greatest risk.

TB disease patterns by HIV and diabetes status.

BACKGROUND: TB is commonly categorised as pulmonary (PTB) or extrapulmonary TB (EPTB). Knowledge of TB disease patterns (PTB and/or EPTB) and determining risk factors remains limited.METHODS: This was a prospective cohort study using point-of-care ultrasound (POCUS) in Indian patients with presumed TB. Clinical and imaging data were used to develop refined case definitions for PTB, concurrent PTB and EPTB (PTB + EPTB) and EPTB without PTB (EPTB). These groups were analysed by HIV (HIV+/-) and diabetes mellitus (DM+/-) status.RESULTS: Of 172 HIV-/DM- patients with TB, 48% had PTB, 23% PTB + EPTB and 29% had EPTB, totalling 52% with any EPTB (PTB + EPTB or EPTB). In HIV+/DM- patients with TB (n = 35), 6% had PTB, 40% had PTB + EPTB and 54% had EPTB, accounting for 94% with EPTB. In HIV-/DM+ patients with TB (n = 61), 61% had PTB, 28% had PTB + EPTB and 11% had EPTB, representing 39% with EPTB.CONCLUSION: Refined case definitions revealed high proportions of EPTB even without HIV or DM. HIV further altered the TB disease pattern towards EPTB and DM towards PTB. Therefore, the dichotomy between PTB or EPTB does not represent the actual spectrum of TB disease. EPTB should receive higher priority in research and clinical practice.

[Implant materials for the internal fixation of midfacial fractures]. / Materialien zur Versorgung von Mittelgesichtsfrakturen.

The material used for osteosynthesis plays a crucial role in the management of facial fractures. Plates need to be flexible enough to be bent and should not be palpable through the skin, while ensuring stable fixation und adequate biocompatibility. Although stainless steel was initially the material of choice, titanium has become the standard material due to its superior biocompatibility. While the explantation of titanium plates and screws appears unnecessary in general, it should be considered in cases of dislocation, cosmetic concerns, pain and infection. Due to their limited initial stability and a potential increase in local complications, resorbable materials based on polymeric lactose are used with caution in midfacial fractures in adults. Our own retrospective study comparing the postoperative complications after fixation of lateral midfacial fractures with titanium and resorbable systems demonstrated a low complication rate for both systems (7-8%) and no statistically significant difference between the two. The appropriate material for fixation should be selected based on the localization and severity of the fracture, the experience of the surgeon as well as on the age and overall condition of the patient.

Atypical electrolyte kinetics during an emergency dialysis session in a patient with Leriche syndrome.

A hemodialysis patient suffered from circulation failure due to a low output syndrome caused by a hyperkalemia (9.9 micromol/l) with typical ecg signs. An emergency hemodialysis was started. After 2 h ecg signs of hypokalemia (2.1 micromol/l) were detectable. Hemodialysis was stopped. 2 h later, serum potassium rose to 6.2 micromol/l. An obturation of the aorta and the inferior caval vein with perfusion through collateral vessels of the lower body side was obvious, resulting into a faster electrolyte correction in the upper and a delayed correction in the lower body side with a rebound in the upper compartment. Dialysis time and dialysate potassium (4.0 micromol/l) were increased. Furthermore no potassium problems occurred.

Work stress and depression among direct support professionals: the role of work support and locus of control.

BACKGROUND: Although work stress can impede the capacity of direct support professionals and contribute to mental health challenges, external (i.e. work social support) and internal resources (i.e. an internal locus of control) have been shown to help DSPs cope more actively. We examined how work stress was associated with depression, with a particular focus on the role of resources. METHOD: Direct support professionals (n = 323) who serve adults with intellectual and developmental disabilities from five community-based organisations completed a cross-sectional, self-administered survey which measured work stress, work support, locus of control, and depression. RESULTS: Multiple regression analyses demonstrated that work stress was positively associated with depression, while resources were negatively associated with depression. In particular, work support moderated the effects of client disability stress, supervisory support lessened the effects of role conflict, and locus of control moderated the effects of workload. CONCLUSIONS: Such findings suggest the importance of external and internal resources for staff mental health. This research underscores the need for strong work social support systems and interventions to help staff manage work stressors.

Focused Assessment with Sonography for Urinary Schistosomiasis (FASUS)-pilot evaluation of a simple point-of-care ultrasound protocol and short training program for detecting urinary tract morbidity in highly endemic settings.

BACKGROUND: Urogenital schistosomiasis (UGS) causes inflammation and fibrosis of the urinary tract. In resource-limited settings, affordable tools for morbidity assessment in clinical care are needed. Point-of-care ultrasound has not yet been validated for UGS-related pathology. METHODS: We developed a protocol for Focused Assessment with Sonography for Urinary Schistosomiasis (FASUS), assessing pathology of the bladder wall, ureters and kidneys. Following standardized training, two clinicians performed FASUS on children and adults with hematuria in Lambaréné, Gabon. Recorded ultrasound clips were remotely reviewed by two ultrasound experts as a diagnostic reference. RESULTS: In 2015 and 2016, scans were performed in 118 patients. The image quality was sufficient in 90% of bladder views and more than 97% of kidney views. UGS-compatible pathology was detected in 51/118 (43%) by the operator and in 46/107 (43%) by the experts among baseline scans of sufficient quality. Inter-rater agreement between operators and experts was very good (κ > 0.8) for hydronephrosis and good (κ > 0.6) for bladder wall thickening. CONCLUSIONS: FASUS is a promising clinical, point-of-care tool for detecting UGS-related urinary tract morbidity in symptomatic patients. Based on larger validation studies, appropriate diagnostic and therapeutic algorithms for the use of FASUS should be established.

Association between distance to HIV testing site and uptake of HIV testing for tuberculosis patients in Cambodia.

SETTING: Banteay Meanchey Province, Cambodia. OBJECTIVE: Cambodia has the highest incidence of tuberculosis (TB) in Asia. Not all TB patients are tested for human immunodeficiency virus (HIV). We assessed the association between distance to HIV testing facility and HIV testing rates. METHODS: We analyzed data on TB patients from 11 clinics to determine the proportion tested for HIV infection. We categorized each TB clinic as having a voluntary confidential counseling and testing (VCCT) center onsite, or being at <15 min, 15-30 min or >30 min driving distance to the nearest VCCT. RESULTS: Of 1017 TB patients not previously tested for HIV, 708 (70%) were tested. Of 481 TB patients without onsite VCCT, 297 (62%) were tested, compared to 410 (77%) of 535 TB patients with onsite VCCT (RR 0.6, 95%CI 0.5-0.7). When the VCCT site was >15 min from the TB clinic, HIV testing occurred only half as frequently as when onsite VCCT was available. CONCLUSION: TB patients treated at clinics without onsite or nearby HIV testing are less commonly tested for HIV infection. Making HIV testing available to TB patients without the necessity of traveling to a distant HIV testing site is likely to increase HIV testing rates.

Successful establishment of third-line antiretroviral therapy in Malawi: lessons learned.

SETTING: Malawi has an extensive national antiretroviral treatment (ART) program, and although less than 2% of all patients receive second-line ART, there are increasingly more patients failing on these regimens. OBJECTIVE: To establish a virtual ART committee using limited available local facilities and expertise to recommend third-line regimens based on genotype resistance of samples sent abroad. DESIGN: A secretariat and a laboratory sample hub were established. The committee started work after locally organizing training courses. Decisions about ART regimens were mainly based on a relatively simple, previously described algorithm, which allowed decisions to be taken without extensive expert knowledge. RESULTS: Of the 25 applications assessed, 23 samples were sent for resistance testing from June 2017 to April 2018. Major protease inhibitor (PI) resistance was detected in 65% of the samples. PI resistance was found even in patients exposed to PIs for short periods. In particular, patients who received co-administration of PIs and rifampicin frequently showed resistance mutations. CONCLUSION: Third-line ART using genotypic resistance testing and algorithm-based treatment regimens are feasible in low-resource settings. Our model can serve as a base for similar programs initiating programmatic third-line ART in other African countries.

Comparative study of blood lead levels in Uruguayan children (1994-2004).

Lead does not fulfill any physiological function in the human body. It is generally accepted that the blood lead level (BLL) is the best exposure index, as there is an excellent correlation between the actual exposure of the individual and the concentration of lead in blood. In Uruguay, lead contamination becomes a matter of public concern in 2001, giving rise to a sensitization in the population, which in many cases brought about a change in hygienic and dietary habits of the children. In 2004, after the leaded gasoline phasing out process in Uruguay was completed, we studied non-exposed children to correlate BLL with variables such as age, sex, area of residence, and available environmental lead data and compared these results with those from our similar screening studies 10years ago. The main result of this comparison is that BLL from children in our country had a significant decrease between 1994 and 2004.

Assessing the effect of different operation techniques on postoperative duplex ultrasound quality after carotid endarterectomy.

BACKGROUND: Duplex ultrasound is the first choice in diagnostics and surveillance of stenoses of the internal carotid arteries before and even after surgery. Therefore, the quality of duplex ultrasound is crucial to investigate these vascular pathologies. OBJECTIVE: Aim of this study was the evaluation whether different surgical techniques affect the postoperative quality of duplex ultrasound. METHODS: In a time period from January to May 2015 duplex ultrasound of the cervical vessels was performed in 75 patients after unilateral endarterectomy of the internal carotid artery at our department between 2006 and 2012. Thereby, the non-operated contralateral side served as a control. Study groups were defined by the surgical techniques of eversion- or thrombendarterectomy with patch plasty using different patch materials and/or a haemostatic sealant. Duplex ultrasound analysis included acoustic impedance, extinction of ultrasound, thickness of skin and individual anatomic aspects of the patients. RESULTS: Carotid endarterectomy itself reduced intravascular grey levels, skin thickness and increased extinction of duplex ultrasound when compared to the non-operated side of the neck. In contrast, neither the kind of chosen operative technique nor the use of different patch materials or the application of a haemostatic sealant showed an effect in this regards. CONCLUSIONS: Whereas carotid endarterectomy per se worsens the quality of postoperative duplex ultrasound, the different analysed surgical techniques as well as used patches and the application of a haemostatic sealant can be assumed to be equal regarding the quality of postoperative ultrasound.

Decrease in serum tacrolimus level and rise in serum creatinine under late addition of cinacalcet in a renal transplant recipient with hyperparathyroidism: a case report.

Cinacalcet is a calcimimetic drug that has been approved for treatment of secondary and tertiary hyperparathyroidism in patients with renal failure requiring renal replacement therapy. A few cases of successful treatment in renal transplant patients immunosuppressed with cyclosporine have been reported. Herein we have reported the case of a 48-year-old renal transplant recipient presenting with secondary hypercalcemic hyperparathyroidism (parathyroid hormone [PTH] 896 pg/mL; total calcium, up to 3.3 mmol/L) under immunosuppressive therapy with tacrolimus. Owing to substantial comorbidity and a high operative risk, we decided to initiate a therapeutic trial with cinacalcet. Using a daily dose of 30 mg of Cinacalcet, normal calcium levels and a mild fall in PTH levels (decline of 62 pg/mL) were achieved within the first week of treatment. At this point, we also observed a marked decrease in tacrolimus levels (from 6.3 to 2.6 mg/dL) without any change in concomitant medications. Thus, we adapted the tacrolimus dosage. Concurrent with cinacalcet therapy, there was a rise in serum creatinine levels (from 3.9 to 4.9 mg/dL before discontinuation of cinacalcet), which was not reversible after termination of 3 weeks of treatment with cinacalcet, but continued. Cinacalcet and tacrolimus are both metabolized via cytochrome P 450. The documented decrease in tacrolimus serum levels, suggested a drug-drug interaction between tacrolimus and cinacalcet. The irreversible deterioration in renal function may be attributed to nephrotoxic properties of cinacalcet, but may also indicate an acceleration of the natural course of chronic allograft nephropathy.