A novel homozygous SLC12A3 mutation causing Gitelman syndrome with co-existent autoimmune thyroiditis: a case report and review of the literature.

Gitelman syndrome is a rare, autosomal recessively inherited tubulopathy manifesting with hypokalemia, hypomagnesemia, hypocalciuria, and metabolic alkalosis. Common symptoms include fatigue, myalgia, reduced performance capacity, tetany, paresthesia, and delayed growth. However, as reported in the literature, diagnosis in some patients is prompted by an incidental finding of hypokalemia. GS develops due to mutations in the SLC12A3 gene, which encodes the thiazide-sensitive Na-Cl cotransporter. Many variants in the SLC12A3 gene causing GS have been reported in literature. A new pathogenic homozygous mutation (c.2612G > T), absence of hypomagnesemia, and accompanying autoimmune thyroiditis are remarkable in our patient. There are a few Gitelman syndrome cases that are complicated with autoimmune thyroiditis in the literature. In this study, we present a case of Gitelman syndrome with a novel homozygous mutation and accompanying autoimmune thyroiditis and review of the literature.

Altered thalamic volume in patients with mild autonomous cortisol secretion: a structural brain MRI study.

PURPOSE: To compare thalamic volume and cognitive functions of patients with mild autonomous cortisol secretion (MACS) with control subjects and patients with overt Cushing's syndrome (CS). METHODS: In this cross-sectional study, volumes of regions of interest were assessed using 3 T magnetic resonance imaging and a voxel-based morphometry approach in 23 patients with MACS, 21 patients with active CS, 27 patients with CS in remission, and 21 control subjects. Cognitive functions were assessed using validated questionnaires. RESULTS: Patients with MACS had smaller left thalamic (F = 3.8, p = 0.023), left posterior thalamic (F = 4.9, p = 0.01), left medial thalamic (F = 4.7, p = 0.028), and right lateral thalamic (F = 4.1, p = 0.025) volumes than control subjects. Patients with active CS also had smaller left thalamic (F = 3.8, p = 0.044), left posterior thalamic (F = 4.9, p = 0.007), left medial thalamic (F = 4.7, p = 0.006), and right lateral thalamic (F = 4.1, p = 0.042) volumes compared to controls. Patients with CS in remission had smaller left medial (F = 4.7, p = 0.030) and right lateral thalamic (F = 4.1, p = 0.028) volumes than controls. Neuropsychological tests showed no difference between the groups. CONCLUSION: MACS may decrease thalamic volume.

Crocin treatment exerts anti-inflammatory and anti-oxidative effects in liver tissue damage of pinealectomized diabetic rats.

Diabetes mellitus (DM) is a chronic metabolic disorder with an increasing global prevalence that leads to significant morbidity and mortality. The liver plays a vital role in glycemic regulation in physiological and pathological conditions such as DM. Free radical formation and inhibition of antioxidant defense systems play a role in the liver damage pathogenesis in diabetic patients The antioxidant, anti-diabetic, anti-inflammatory, and radical scavenging properties of crocin are known. This study was designed to determine the possible protective effects of crocin against liver tissue damage in pinealectomized diabetic rats. Sixty rats were divided into six groups: Control, Sham+streptozotocin (STZ), Pinealectomy (PINX), PINX+STZ, PINX+Crocin, and PINX+STZ+Crocin. PNX procedure was carried out on the first day of the experiment. Intraperitoneal (i.p.) injection of 50 mg/kg STZ was performed on the 30th day of the experiment to induce DM. Crocin (50 mg/kg; i.p.) was applied for 15 days after the pinealectomy procedure and induction of DM. Crocin decreased the markers (alanine aminotransferase (ALT), aspartate aminotransferase (AST), alkaline phosphatase (ALP), interleukin-1ß (IL-1ß), and malondialdehyde (MDA)) of liver damage and increased antioxidant enzyme levels and tissue total antioxidant status. Histological results showed that the administration of crocin exhibited a protective effect against liver damage caused by STZ. These results indicate that crocin evidence protection against liver injury caused by STZ.

Evaluation of both expression and serum protein levels of caspase-8 and mitogen-activated protein kinase 1 genes in patients with different severities of COVID-19 infection.

AIM: The current study aimed to evaluate the effects of caspase-8 (CASP8) and mitogen-activated protein kinase 1 (MAPK1) gene expression levels and their products on preventing severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. METHODS: A total of 40 patients (men, 15 [37.5%]; women, 25 [62.5%]) with COVID-19 infection were included in the current study. The patients were divided into four main groups based on disease severity: mild (n = 7), moderate (n = 10), severe (n = 14), and critical (n = 9). Individuals aged < 18 years and pregnant women were excluded. Patients were classified according to the World Health Organization (WHO) classification system (WHO/2019-nCoV/clinical/2021.1). RESULTS: Considering all groups, statistically significant differences were detected among all groups for both CASP82-ΔΔCt (p = 0.006) and MAPK1 2-ΔΔCt values (p = 0.015). Moreover, statistically significant differences were detected between mild and moderate (p = 0.013), moderate and critical (p = 0.018), and severe and critical (p = 0.023) groups for lymphocytes. CONCLUSION: The CASP8/MAPK1 expression levels and/or its products are essential in preventing injury caused by COVID-19 infection. They play crucial roles in maintaining cellular homeostasis and viability. Furthermore, CASP8/MAPK1 levels can provide information about disease severity.

A case report of Wernicke Korsakoff syndrome in a patient with cholangiocellular carcinoma: An underestimated cause of encephalopathy in cancer patients.

INTRODUCTION: Wernicke's encephalopathy, a disorder caused by thiamin deficiency, is characterized by a classical triad of encephalopathy, ataxia, and ophthalmoplegia. Although alcoholism is the most common predisposing factor, it can also be associated with nonalcoholic states (hyperemesis gravidarum, intestinal obstruction, bariatric surgery, and others). This work presents a case of nonalcoholic Wernicke-Korsakoff syndrome diagnosed in a cholangiocellular carcinoma patient and literature review. CASE REPORT: A 65-year-old male patient with a history of cholangiocellular carcinoma (Klatskin tumor) was treated with radiotherapy at the operation site after Roux-en-Y hepaticojejunostomy. During follow-up, the patient developed gastric outlet obstruction and was diagnosed with peritoneal carcinomatosis after a palliative gastrojejunostomy. As the patient could not tolerate oral nutrition during hospitalization, total parenteral nutrition was administered. After 10 days of admission, the patient showed decreased response to verbal stimuli as well as bilateral horizontal nystagmus, lethargy, and disorientation. Furthermore, the patient displayed confabulation. Clinical and imaging findings were consistent with Wernicke's encephalopathy. Therefore, treatment with intravenous thiamin replacement was initiated. The patient's encephalopathy regressed on the second day after treatment, and he recovered the place-person-time orientation. In the following month, the abnormal imaging findings were almost entirely resolved. CONCLUSION: In order to prevent irreversible brain damage induced by chronic thiamin deficiency, thiamin replacement therapy with parenteral nutrition solutions should be included as a treatment for hospitalized cancer patients unable to receive enteral nutrition for a long time.

Problem-solving therapy can reduce psychological distress in patients with Cushing's disease: a randomized controlled trial.

OBJECTIVE: To evaluate the effects of online group problem-solving therapy (PST) for reducing negative problem orientation (NPO), psychological distress, and increasing quality of life in patients with Cushing's disease (CD). METHODS: In this randomized trial, we allocated 55 eligible patients to either PST (n = 28) or treatment as usual (TAU) (n = 27) groups. The analyses primarily relied on intent-to-treat (ITT) principle and were repeated with intervention completers (per-protocol analyses). Social problem-solving inventory-revised short form, Beck Depression Inventory (BDI), General Health Questionnaire-12 (GHQ-12), Perceived Stress Scale (PSS), The Satisfaction with Life Scale, and Cushing's Quality of Life scale were used. Pre-test, post-test, and follow-up measures were obtained. Linear mixed models were used to compare PST and treatment as usual (TAU) groups across time. RESULTS: Of the total 55 patients with CD, the mean age was 46 ± 12 years, 49 patients (89%) were female, and 41 patients (74.5%) were in remission. The patients within the PST and TAU groups were similar in terms of age, sex, and disease activity. ITT analyses showed a greater reduction of NPO scores in patients who received PST as compared to patients who received usual care (df = 45.9, p = 0.029, Cohen's d = 0.47). The decrease in NPO was sustained at follow-up (mean difference: - 2.2, p = 0.007). Results of the ITT analyses revealed no superior benefits of the intervention for psychological distress. However, per-protocol analyses demonstrated that PST provided a greater decrease in BDI, PSS, and GHQ-12 scores. CONCLUSION: PST may decrease NPO and improve the psychological well-being of patients with CD.

Treatment with crocin suppresses diabetic nephropathy progression via modulating TGF-ß1 and oxidative stress in an experimental model of pinealectomized diabetic rats.

One of the most common complications of diabetes is diabetic nephropathy (DN). Uncontrolled hyperglycemia leads to histopathologic alterations in the kidney that prevent normal renal function. This study aimed to explore the effects of crocin treatment via virtue of its numerous beneficial properties in streptozotocin-induced pinealectomized diabetic rats. The pinealectomy procedure was conducted on the first day of the study. On the 30th day following pinealectomy, streptozotocin (STZ) (50 mg/kg) was administered intraperitoneally in Wistar rats for induction of diabetes. Diabetes was confirmed on the 3rd day following STZ administration by determining the glucose levels. Daily crocin treatment intraperitoneally for 15 days (50 mg/kg) ameliorated impaired renal oxidant/antioxidant balance, reduced TGF-ß1 immuno-staining around tubules, and promoted improvement of renal architecture. Moreover, crocin administration improved altered renal function parameters, including serum Cr and BUN, and also increased creatinine clearance. In conclusion, the protective effects of crocin on diabetic nephropathy might be associated with its powerful antioxidant properties, its ability to improve tissue antioxidant status, and its ability to prevent inflammatory pathways.