TSHRV656F Activating Variant of the Thyroid Stimulating Hormone Receptor Gene in Neonatal Onset Hyperthyroidism: A Case Review

An activating variant of the thyroid stimulating hormone receptor (TSHR) gene is one of the rare causes of neonatal hyperthyroidism. This disorder may occur as a result of an autosomal dominant inheritance or sporadically through de novo variation. Here we present a case of neonatal onset congenital non-autoimmune hyperthyroidism (NAH) with a sporadic germline activating TSHRV656F variant. A female infant with tachycardia, who was transferred due to hyperthyroidism in the first week of life, displayed no other symptoms or signs. The patient’s mother did not have Graves’ disease, and TSHR stimulating antibodies were not present in the mother or baby. Imaging showed thyroid gland hyperplasia and left ventricular hypertrophy, the patient was subsequently put on methimazole treatment. After six months undergoing treatment, a heterozygous p.Val656Phe (V656F) (c.1966G>T) variant was detected on exon 10 of the TSHR gene. The variant was not identified in the mother and father, so the case was assumed to be sporadic. In conclusion, although the literature describes V656F variant as a somatic variant in children and adults with toxic thyroid nodule(s) that results in the structural activation of the TSH receptor, no previous cases of neonatal hyperthyroidism due to TSHRV656F variant have been reported. This study is the first case review that highlights the relationship between TSHRV656F variant and neonatal onset NAH.     

The concept of crosstalk‐directed embryological target mining and its application to essential hypertension treatment failures

This review aims to introduce the novel concept of embryological target mining applied to interorgan crosstalk network genesis, and applies embryological target mining to multidrug‐resistant essential hypertension (a prototype, complex, undertreated, multiorgan systemic syndrome) to uncover new treatment targets and critique why existing strategies fail. Briefly, interorgan crosstalk pathways represent the next frontier for target mining in molecular medicine. This is because stereotyped stepwise organogenesis presents a unique opportunity to infer interorgan crosstalk pathways that may be crucial to discovering novel treatment targets. Insights gained from this review will be applied to patient management in a clinician‐directed fashion.     

Evaluation of the efficacy of methotrexate and cyclosporine therapies on psoriatic nails: a one‐blind,randomized study

Background Treatment of psoriatic nail is difficult. Objective The aim of this study was to evaluate and compare the efficacy and safety of methotrexate and cyclosporine in psoriatic nail. Methods Thirty‐seven psoriatic patients with nail involvement were randomized to treatment with methotrexate (initial dose, 15 mg per week) or cyclosporine (initial dose, 5 mg per kg of bodyweight per day) for 24 weeks. The primary outcome was the Nail Psoriasis Severity Index (NAPSI). The Psoriasis Area and Severity Index (PASI), doctor and patient global score were also measured. The scores were determined by a blinded observer. Results Seventeen patients completed the study in each group. The mean percentages of reduction of the NAPSI score after methotrexate and cyclosporine treatments were 43.3% and 37.2%, respectively. No significant differences between the treatment groups was found for in the NAPSI, PASI, physician’s and patient’s global score at the end of the study period. The methotrexate group showed a significant improvement in nail matrix scores and the cyclosporine group in nail bed score. Conclusion Moderate effectiveness on psoriatic nail was found in the two treatment agents and there were no significant differences in efficacy between the groups. A significant improvement was detected in methotrexate group for the nail matrix findings, and in cyclosporine group for the nail bed findings.     

Energy and nutrient intake and food patterns among Turkish university students

The goal of this study was to determine the nutritional value and nutrients provided by each meal and snack of consumed by university students. Subjects were randomly selected from volunteer students at five universities in Ankara. A sample of 400 students (167 female and 233 male) aged between 19 and 24 years participated in this study. A questionnaire designed to assess general characteristics, anthropometric measurements, and 24 hours dietary records was administered using face to face interviews. According to body mass index classifications, 69.5% of male students, and 77.7% of female students were found to be in the normal weight categories. Overweight categories were found to be 25.1% and 5.6% for males and females, respectively. Breakfast and lunch were the most frequently skipped meals, with a total of 47.7% of students skipping breakfast and 25.2% skipping lunch. The percentages of energy deficiency were found to be 78.4% in males, and 81.1% in females. Dinner was the main meal for consumption of energy and the other nutrients, except saturated fatty acids, for both genders. Also, dinner was the largest contributor of energy in both genders. Students ate more bread, cereals, and meat at dinner than during the other meals and snacks. Fruit was consumed more during snacks than at the other meals by all students. It was concluded that students need more nutritional information about healthy nutritional habits, adequate intake of nutrients, and ideal body weights.     

Insulinoma: an Evaluation by a Single Institution

Introduction: Insulinoma is a rare pancreatic islet cell tumour that is associated with hypoglycaemia. Diagnosis of the disease, localisation of the tumour and surgical therapy may be challenging and the aim of this study is to evaluate the problems concerning insulinoma.

Materials and methods: The surgical records of patients who were operated on for insulinoma at Hacettepe University Department of General Surgery between January 1980 and December 2006 were evaluated retrospectively. The evaluated parameters were the gender and ages of the patients with symptoms, signs, diagnostic tools and surgical methods. Results: Twenty-six patients were included in the study. There were 17 male and nine female patients. The median age was 34. The median diagnostic period was 285 days. Abdominal computer tomography was the most frequently used diagnostic method. A total of 15 enucleations, nine distal pancreatectomies and three pancreaticoduodenectomies were performed. Histopathologically most of the tumours were benign islet cell tumours.

Conclusions: There are still difficulties in the diagnosis, localisation and histopathologic evaluation of insulinoma. Appropriate pre-operative evaluation, through exploration and palpation of the pancreas during the surgery, as well as experienced centres are important to increase the success of the surgery of insulinoma.     

What has changed in malignant mesothelioma between 1990 and 2019? A time- series analyses in Turkey

International Journal of Clinical Oncology - To investigate the changes in epidemiological and survival characteristics of malignant mesothelioma (MM) cases diagnosed in a 30-year period between...     

The prognostic importance of fibronectin and sialic acid levels in human pituitary adenomas

In this study, fibronectin and sialic acid levels were determined in human pituitary adenomas. The mean fibronectin and sialic acid levels for human pituitary adenomas were found to be 31.64 ± 15.82 μg/mg protein and 21.90 ± 9.82 μg/mg protein, respectively, versus 6.30 ± 2.96 μg/mg protein and 9.88 ± 2.81 μg/mg protein for the normal brain tissues. Fibronectin and sialic acid levels were significantly higher (P < 0.001) in human pituitary adenomas than the normal brain tissues. In human infiltrative and non-infiltrative pituitary adenomas, the mean fibronectin and sialic acid levels were found to be 40.87 ± 15.90 μg/mg protein, 27.59 ± 11.10 μg/mg protein and 22.40 ± 9.51 μg/mg protein, 16.21 ± 3.20 μg/mg protein, respectively. Fibronectin and sialic acid levels were slightly elevated (P < 0.05) in human infiltrative pituitary adenomas compared with non-infiltrative adenomas.     

Serum acetylcholinesterase and prognosis of acute organophosphate poisoning

OBJECTIVE: The aim of this study is to investigate the prognostic value of serum acetylcholinesterase levels and their relationship with neurological syndromes (Type 1 syndrome, intermediate syndrome, and delayed polyneuropathy) in acute organophosphate poisoning. MATERIALS AND METHODS: Thirty-two consecutive patients with acute organophosphate poisoning admitted to the Ondokuz Mayis University Emergency Department from June 1999 to January 2001 were evaluated. Patients were assessed according to admission time, symptoms, and results of clinical exams and their serum acetylcholinesterase levels were determined on days 1, 2, 3, 7, and the last day. RESULTS: There was no significant difference between the first-day serum acetylcholinesterase of the patients with severe poisoning (n = 22, 68.75%) and of the patients with mild poisoning (n = 10, 31.25%; NS). There was no discernible difference between the serum acetylcholinesterase obtained on days 1 and 3 after poisoning from the patients with intermediate syndrome (n = 5, 15.6%; means: 0.90 +/- 0.65 vs. 0.88 +/- 0.53, 19.35 vs. 18.92%; NS, sensitivity = 80%; specificity = 87.5%). There was a significant difference between the serum acetylcholinesterase obtained on days 1 and 3 from the patients with nonintermediate syndrome (n = 24, 75%; means: 1.05 +/- 0.24 vs. 1.68 +/- 0.29, 22.58 vs. 36.12%; p < 0.001). There was no discernible significant difference in serum acetylcholinesterase between the patients with organophosphorus-induced delayed polyneuropathy (n = 7, 21.8%) and nonorganophosphorus-induced delayed polyneuropathy. In the patients who died (n = 5, 15.6%), serum acetylcholinesterase showed no discernible increase day 1-the last day (means: 0.50 +/- 0.25 vs. 0.46 +/- 0.26, 10.75 vs. 9.89%; NS). There was a significant difference between the serum acetylcholinesterase levels obtained on days 1 and the last day from the patients who survived (n = 27, 84.3%; means: 1.14 +/- 0.25 vs. 2.32 +/- 0.26, 24.51 vs. 49.89%; p < 0.001). CONCLUSION: In the acute phase of organophosphate poisoning, low serum acetylcholinesterase (> 50% of minimum normal value) supports the diagnosis of organophosphate poisoning but it does not show a significant relationship to the severity of poisoning (NS). The serum acetylcholinesterase activity may be a useful parameter in following the acute prognosis of organophosphate poisoning.