Multiple endocrine neoplasia type 1 (MEN1) syndrome is usually accompanied by endocrine tumors, but non-endocrine tumors can occur as well. However, the coexistence of MEN1 syndrome and malignant ...tumor such as low-grade fibromyxoid sarcoma has not been described in the literature. Moreover, the MEN1 gene mutations have not been identified in patients with fibromyxoid sarcoma, so far. Unlike some other syndromes where a genetic mutation can predict clinical course, there is no genotype-phenotype correlation in MEN1 syndrome. Therefore, these patients require lifelong and multidisciplinary surveillance, not only for typical endocrine and benign non-endocrine tumors but also for diverse and even more malignant forms. The atypical clinical presentation should pose suspicion about new gene mutation and serve as a warning in the further follow-up.
Idiosyncratic drug-induced liver injury (DILI) is an unpredictable reaction of individuals exposed to a certain drug, and drug-induced autoimmune hepatitis (DIAIH) presents a DILI phenotype that ...mimics idiopathic autoimmune hepatitis (AIH) when considering the clinical, biochemical, serological and histological parameters. We present a case report of a 48-year-old male who was hospitalized due to severe hepatocellular liver injury two months after self-treatment with a muscle-building dietary supplement based on arginine-alpha-ketoglutarate, L-citrulline, L tyrosine, creatine malate and beet extract. His immunology panel was positive with increased IgG levels, and radiologic methods showed no signs of chronic liver disease. He underwent corticosteroid treatment with adequate response. After therapy withdrawal, a clinical relapse occurred. Seven months after the initial presentation, liver MR suggested initial cirrhotic changes in the right liver lobe. A liver biopsy revealed abundant lymphoplasmacytic infiltrate with piecemeal necrosis and grade 2 fibrosis. He responded well to the corticosteroid treatment again, and was further treated with low-dose prednisone without additional relapses. Several years later, further management confirmed the presence of liver cirrhosis with no histological or biochemical signs of disease activity. DIAIH is a DILI phenotype that is difficult to distinguish from idiopathic AIH despite a wide armamentarium of diagnostic methods. It should always be considered among the differential diagnoses in patients presenting with hepatocellular liver injury.
We aimed to provide insight into nutritional and clinical indicators of malnutrition risk and their influence on two-year mortality and re-hospitalization rate among patients hospitalized in internal ...clinic departments in the tertiary hospital in Croatia. Initially, data on 346 participants were obtained, while 218 of them where followed-up two years later. At baseline, the majority of participants were old and polymorbid (62.1% suffered from arterial hypertension, 29.5% from cancer, and 29.2% from diabetes). Even apparently presenting with satisfying anthropometric indices, 38.4% of them were at-risk for malnutrition when screened with the Nutritional Risk Screening-2002 (NRS-2002) questionnaire (NRS-2002 ≥ 3). More importantly, only 15.3% of all participants were prescribed an oral nutritional supplement during hospitalization. Those that were at-risk for malnutrition suffered significantly more often from cancer (54.9% vs. 20.6%;
< 0.001) and died more often in the follow-up period (42.7% vs. 23.5%;
< 0.003). Their anthropometric indices were generally normal and contradictory 46.3% were overweight and obese (body mass index (BMI) > 25 kg/m
). Only 36.6% of nutritionally endangered participants used an oral supplement in the follow-up period. NRS-2002 ≥ 3 correlated with anthropometric indices, glomerular filtration rate, age, and length of the initial hospital stay. Unlike other studies, NRS-2002 ≥ 3 was not an independent predictor of mortality and re-hospitalizations; other clinical, rather than nutritional parameters proved to be better predictors. Patients in our hospital are neither adequately nutritionally assessed nor managed. There is an urgent need to develop strategies to prevent, identify, and treat malnutrition in our hospital and post-discharge.
Burned patients have increased level of mortality, possibly due to late introduction of enteral feeding. The aim of this study was to compare the benefits and safety of very early enteral nutrition ...introduction compared to the normal diet among burns patients in an intensive care unit.
Participants consisted of 101 patients, aged 20-76 years (mean age 48 years), 49 men and 52 women, with burns that covered more than 20% of the body. The intervention group consisted of 52 subjects fed via introduced nasojejunal probe that started within four hours after admission to the hospital. The control group consisted of fifty patients fed in standard manner per os (three standard hospital meals) immediately after the first wound dressing.
The average decline BMI in control group was 2.27±0.56 kg/m2, while the average reduction in BMI in the intervention group was 1.77±0.38 kg/m2 (p<0.001). The largest drop of albumin concentration in the control group was 28.5%, whereas in the intervention group was 23.8%. (p<0.001). The greatest decrease of transferrin concentration in the control group was 31.1%, while the average reduction in the intervention group was 18.3%. (p<0.001). C-reactive protein values were statistically higher in control group (p<0.001). Intervention group had lower rate of complications and infection rates.
Enteral nutrition in burned patients should begin within few hours of burn onset. Such approach leads to better outcomes, reduces complications, and improves nutritional profile.
In this study, we investigated the effectiveness of FreeStyle Libre Flash Glucose Monitoring (FGM) implementation in a real life clinical setting with the emphasis on the effect of initial education ...on the use of the FGM system.
This prospective observational study included 425 diabetes type 1 subjects followed up for 3 to 12 months (320 were followed up to 3 months, 267 up to 6 months and 147 up to period of one year). An FGM sensor was placed at study entry and all participants were educated through a period of 5 days on sensor usage and self-management of glycemia with follow up visits every 3 months.
HbA1c values significantly decreased from baseline (T0) to 3 months (T3) (
< 0.001), with a drop from 7.48% ± 0.1% to 7.30 ± 0.1%. There was no change in time spent in hypoglycemia from T3 to T12, although there was a decreasing trend present. The change in HbA1c values in the entire cohort was driven by change in the subgroup of patients with HbA1c ≥7% with a drop from 8.22% ± 1.14% to 7.68% ± 1.26% (
< 0.0001) in the first 3 months. Also, in individuals performing SMBG less than 5 times per day, there was a steady decrease in HbA1c levels up to 6 months (
< 0.05 and
< 0.001, respectively) as opposed to those who performed SMBG ≥5 times per day.
The improvement in HbA1c was mainly driven by the increase in the number of scans per day. The subjects with poorer glycemic control and those who seldom performed SMBG benefited the most.
Summary Laugier–Hunziker syndrome (LHS) is a rare, benign and acquired disorder characterized by hyperpigmentation of the oral cavity and lips along with longitudinal melanonychia. No underlying ...systemic abnormalities or malignant predisposition is associated with it. In everyday clinical practice, an endocrinologist encounters certain endocrine conditions (e.g. Addison’s disease, McCune–Albright syndrome) that present with, inter alia, mucocutaneous hyperpigmentation. Even though LHS is easily distinguished from endocrine entities mentioned earlier, diagnostic evaluation usually requires skilled and thorough practitioner. Since it is the diagnosis of exclusion, a number of systemic conditions must be ruled out prior to making the final diagnosis. However, its major differential diagnosis is primarily Peutz-Jeghers syndrome, which carries an increased risk of cancer. Here, we report a case of a young woman who was referred to the endocrinologist for diagnostic evaluation of dark-colored lesions of the oral cavity and nails. All performed laboratory tests were within reference range. Endoscopic gastrointestinal evaluation did not reveal neoplastic formations. Owing to an adult-onset, asymptomatic clinical course and negative diagnostic findings, we made a final diagnosis. In this case, target diagnostic evaluation notably reduced the need for additional expensive and invasive procedures and treatments. Learning points: Laugier–Hunziker syndrome is a rare, acquired cause of asymptomatic, benign mucocutaneous hyperpigmentation. Prior to making a final diagnosis, certain medical entities with overlapping clinical features must be excluded. Endocrine conditions that usually present with the hyperpigmentation of the skin and mucous membranes (e.g. Addison’s disease, McCune–Albright syndrome) can be easily ruled out based on clinical and laboratory findings. Its major differential diagnosis, Peutz-Jeghers syndrome is characterized by melanotic macules of the face and mouth, intestinal polyposis and significantly increased risk of different types of cancer, especially gastrointestinal. Anamnesis, physical examination and target diagnostic evaluation reduce the need for additional invasive and expensive procedures and treatment.
Cerebrovascular reactivity (CVR) provides information on the intracerebral arterioles capacity to react to vasodilatory stimuli. The current study aimed to investigate the influence of hypertension ...and type 2 diabetes mellitus on CVR in diabetics with retinopathy.
Retrospective analysis of data prospectively collected over a 1-year period.
Subjects were classified into four groups each comprised of 30 participants: diabetic retinopathy with hypertension (DRH), diabetic retinopathy without hypertension (DR), hypertension without diabetes mellitus (H), and healthy controls without diabetes and hypertension (C). CVR was estimated in relation to the increase in the mean flow velocity compared with the basal velocity in both middle cerebral arteries during hypercapnia.
In the DRH group, the mean (SD) increase in CVR was 8.8 (2.49) cm/s, in the H group 14.4 (2.59) cm/s and in the DR group 9.7 (2.97) cm/s. The analysis of variance showed significant differences among the groups in blood flow velocity after a breath-holding test (F=89.83; df=3.116; P < .001).
Diabetes mellitus influences CVR more than hypertension.
1 Lunardi and colleagues advanced identification of the eye, inner ear, nervous system and enrr dothelium autoantigens of Cogan syndrome with their finding that the isolated 12rresidue Cogan peptide ...is homologous to four autoantigens: laminin, connexin 26, the collagen diseaserassociated Ssa/Ro, and the receptorrlike phosphatase DEPr 1/CD148, and one viral protein. 1 The agerrelated decrease in testosterone and potential hyporr gonadism may result in decreased libido and erectile dysfunction, loss of muscle mass and strength, weight gain, and declining cognitive funtion.
A 47-year-old woman had a history of episodic acute intermittent angioedema and urticaria with moderate pruritus for one month. She was on 10 mg of loratadine daily. She had a fever of 39ºC, ...arthralgia, fatigue, and angioedema of the upper respiratory tract. Laboratory results are shown in Table 1.
Summary
Background
Cell division cycle 25c (
CDC25c
) is a gene coding a phosphatase controlling entry into mitosis upon activation through Polo-like kinase 1 (PLK1) and serves as a key regulator of ...cell division. The
CDC25c
was reported to be dysregulated in some malignant diseases, but its role in myelofibrosis has not yet been elucidated.
Methods
We have retrospectively investigated
CDC25c
mRNA expression in bone marrow aspirates of 43 patients with myelofibrosis (28 primary PMF and 15 secondary myelofibrosis SMF) and 12 controls.
Results
CDC25c
mRNA expression did not significantly differ between PMF, SMF and controls (median ∆CT 3.08 vs 2.86 vs 2.29 for PMF, SMF and controls, respectively;
P
= 0.162). Patients presenting with higher
CDC25c
mRNA expression were of older age (
P
= 0.037), had statistically significantly higher white-blood-cells (
P
= 0.017), larger liver size (
P
= 0.022), higher absolute neutrophil (
P
= 0.010), monocyte (
P
= 0.050), basophil (
P
= 0.012), and eosinophil counts (
P
= 0.013). Patients presenting with high
CDC25c
mRNA expression had statistically significantly inferior overall survival compared to low
CDC25c
expression group (HR = 2.99;
P
= 0.049). Median overall survival was not reached in patients with low and was 44 months in patients with high
CDC25c
expression.
Conclusion
Our data suggest that higher
CDC25c
expression is associated with more proliferative phenotype of myelofibrosis and is prognostic of worse survival. Future studies investigating these interesting associations are warranted.
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