Identifying Clinical Characteristics of Hypoparathyroidism in Turkey: HIPOPARATURK-NET Study

Hypoparathyroidism is an orphan disease with ill-defined epidemiology that is subject to geographic variability. We conducted this study to assess the demographics, etiologic distribution, treatment patterns and complication frequency of patients with chronic hypoparathyroidism in Turkey. This is a retrospective, cross-sectional database study, with collaboration of 30 endocrinology centers located in 20 cities across seven geographical regions of Turkey. A total of 830 adults (mean age 49.6 ± 13.5 years; female 81.2%) with hypoparathyroidism (mean duration 9.7 ± 9.0 years) were included in the final analysis. Hypoparathyroidism was predominantly surgery-induced (n = 686, 82.6%). The insulting surgeries was carried out mostly due to benign causes in postsurgical group (SG) (n = 504, 73.5%) while patients in nonsurgical group (NSG) was most frequently classified as idiopathic (n = 103, 71.5%). The treatment was highly dependent on calcium salts (n = 771, 92.9%), calcitriol (n = 786, 94.7%) and to a lower extent cholecalciferol use (n = 635, 76.5%) while the rate of parathyroid hormone (n = 2, 0.2%) use was low. Serum calcium levels were most frequently kept in the normal range (sCa 8.5–10.5 mg/dL, n = 383, 46.1%) which might be higher than desired for this patient group. NSG had a lower mean plasma PTH concentration (6.42 ± 5.53 vs. 9.09 ± 7.08 ng/l, p < 0.0001), higher daily intake of elementary calcium (2038 ± 1214 vs. 1846 ± 1355 mg/day, p = 0.0193) and calcitriol (0.78 ± 0.39 vs. 0.69 ± 0.38 mcg/day, p = 0.0057), a higher rate of chronic renal disease (9.7% vs. 3.6%, p = 0.0017), epilepsy (6.3% vs. 1.6%, p = 0.0009), intracranial calcifications (11.8% vs. 7.3%, p < 0.0001) and cataracts (22.2% vs. 13.7%, p = 0.0096) compared to SG. In conclusion, postsurgical hypoparathyroidism is the dominant etiology of hypoparathyroidism in Turkey while the nonsurgical patients have a higher disease burden with greater need for medications and increased risk of complications than the postsurgical patients. © 2021, The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature

Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report

<p>Abstract</p> <p>Background</p> <p>Because of low copy repeats (LCRs) and common inversion polymorphisms, the human chromosome 8p is prone to a number of recurrent rearrangements. Each of these rearrangements is associated with several phenotypic features. We report on a patient with various clinical malformations and developmental delay in connection with an inverted duplication event, involving chromosome 8p.</p> <p>Methods</p> <p>Chromosome analysis, multicolor banding analysis (MCB), extensive fluorescence in situ hybridization (FISH) analysis and microsatellite analysis were performed.</p> <p>Results</p> <p>The karyotype was characterized in detail by multicolor banding (MCB), subtelomeric and centromere-near probes as 46,XY,dup(8)(pter->p23.3::p12->p23.3::p23.3->qter). Additionally, microsatellite analysis revealed the paternal origin of the duplication and gave hints for a mitotic recombination involving about 6 MB in 8p23.3.</p> <p>Conclusion</p> <p>A comprehensive analysis of the derivative chromosome 8 suggested a previously unreported mechanism of formation, which included an early mitotic aberration leading to maternal isodisomy, followed by an inverted duplication of the 8p12p23.3 region.</p

Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair

<p>Abstract</p> <p>Background</p> <p>Genomic imbalances constitute a major cause of congenital and developmental abnormalities. GLUT1 deficiency syndrome is caused by various de novo mutations in the facilitated human glucose transporter 1 gene (1p34.2) and patients with this syndrome have been diagnosed with hypoglycorrhachia, mental and developmental delay, microcephaly and seizures. Furthermore, 1q terminal deletions have been submitted in the recent reports and the absence of corpus callosum has been related to the deletion between <it>C1orf100 </it>and <it>C1orf121 </it>in 1q44.</p> <p>Results</p> <p>This study reports on a sibling pair with developmental delay, mental retardation, microcephaly, hypotonia, epilepsy, facial dysmorphism, ataxia and impaired speech. Chromosome analysis revealed a derivative chromosome 1 in both patients. FISH and MCB analysis showed two interstitial deletions at 1p34.2 and 1q44. SNP array and array-CGH analysis also determined the sizes of deletions detailed. The deleted region on 1p34.2 encompasses 33 genes, among which is <it>GLUT1 </it>gene (<it>SLC2A1</it>). However, the deleted region on 1q44 includes 59 genes and distal-proximal breakpoints were located in the ZNF672 gene and SMYD3 gene, respectively.</p> <p>Conclusion</p> <p>Haploinsufficiency of <it>GLUT1 </it>leads to GLUT1 deficiency syndrome, consistent with the phenotype in patients of this study. Conversely, in the deleted region on 1q44, none of the genes are related to findings in these patients. Additionally, the results confirm previous reports on that corpus callosal development may depend on the critical gene(s) lying in 1q44 proximal to the <it>SMYD3 </it>gene.</p

An analysis of the relationship between insomnia-fatigue levels of the mothers and their depression and maternal attachment status

The study was conducted to investigate the relationship between the insomnia-fatigue levels of the mothers with infants and their depression and maternal attachment status. The universe of this descriptive study consisted of the mothers with infants who applied to a state hospital in the north of Turkey with the mothers admitted to the pediatric polyclinic. The sample comprised 194 mothers who were selected by a simple random sampling method and who agreed to participate in the study. In the G power analysis, the sample calculation was performed based on the relationship between two means. As a result of the analysis, the sample was calculated as 178 people. This number was increased to 194 to improve the power of the research. As data collection tools, a Mother Introductory Information Form for descriptive features, Brief Fatigue Form, Sleep Status Rating Scale for Mothers, Beck Depression Scale and Maternal Attachment Scale were used. In the statistical analysis, arithmetic means, standard deviations and percentages were used for descriptive variables. Spearman correlation analysis was used to examine the relationships between the quantitative variables. The average age of the mothers was found as 29.28±5.52 and 52.7% of them were primary school graduates. 86.1% had planned pregnancy and 64.9% had a cesarean section. 68.7% of the mothers stated that they could take their baby on their laps more than one hour and 45.6% were breastfeeding them. It was determined that the mean fatigue scores of the mothers were 4.33±2.56, the mean insomnia score was 4.23±1.24, the Beck depression score was 14.01±11.06 and the maternal attachment score was 99.22±6.74. In our study, there was a significant weak relationship in the positive direction between maternal fatigue and insomnia levels and depression status (p 0.05). It was determined that there was a weak correlation in the positive direction between the fatigue-insomnia levels and the depression status of the mothers. In the light of these results, by identifying the factors that cause fatigue and insomnia, it could be suggested to prevent the maternal depression and to strengthen maternal attachment of the mothers with infants aged 2-6 months through social support provided by health professionals. [Med-Science 2018; 7(4.000): 728-32

Patient satisfaction with their pain management and comfort level after open heart surgery

WOS: 000350724400002Objective The aim of this study is to determine patient satisfaction with pain management and comfort levels after undergoing open heart surgery. Design This descriptive study was performed between January 31 and April 29, 2011. Setting The study was conducted in the cardiovascular surgery clinic of Region Training-Research hospital in Erzurum, Turkey. Subjects Fifty two patients (32 males, 20 females; mean age 58.4 years; range 25 to 77 years) who had undergone open heart surgery were included in the study. Main outcome measure(s) The patient data was collected using Personal Information Form, Pain Satisfaction Surveys and General Comfort Scales at the time of discharge. The Pain Satisfaction Survey is a survey tool which was developed by the 'American Pain Society' in 1991. The General Comfort Scale was developed by Kolcaba in 1992 and its validity and reliability in a Turkish setting was tested by Kuguoglu and Karabacak in 2004. Results In this study, 61.5% of the patients underwent coronary artery bypass graft surgery, 30.7% aorta and/or mitral valve replacement and 7.7% aneurysm repair. The mean scores of pain intensity immediately after surgery, at first post-operative ambulation, at 24 hours before discharge and at discharge were 7.07+2.6, 6.71+2.7, 6.32+2.4 and 4.57+2.3, respectively. Most subjects (88.5%) reported a wait time of 15 min as the longest time they had to wait for pain medication and patient satisfaction with pain management was found to be high. The mean score of comfort level at discharge was 3.16+0.2 and there was no statistically significant difference between the comfort level and pain rating at discharge (r=-0.225, p>0.05). Conclusion It was found that pain intensity gradually decreased as patients neared hospital discharge and their overall satisfaction with the nurses' pain management was high

An Imported Dengue Fever Case in Turkey and Review of the Literature

Dengue fever is an acute viral disease that can affect all age groups in tropical and subtropical countries. The predominant vectors are the mosquitoes namely Aedes aegypti and A.albopictus. Although there have been no case reports in Turkey due to DF, there is seroepidemiological evidence indicating the presence of Dengue virus (DENV) in Turkey. In this case report we presented an imported dengue fever case. The patient was 40 years old, previously healthy male, Switzerland citizen. He had immigrated from Dubai to India two weeks ago and after one week from immigration he attended to a hospital in India because of high fever. The NS1 antigen test (Bio-Rad Laboratories, USA) was found positive and the patient was followed-up with diagnosis of dengue fever in India. During his visit to Turkey, he attended to the hospital for a routine control and his analysis revealed thrombocytopenia (PLT: 48.000/mu l), leukopenia (white blood cell: 2800/mu L) and elevated liver enzymes (AST: 76 U/L, ALT: 83 U/L). Fever was not detected in follow-up. The patient had petechial rash on his lower extremities, white blood cell and PLT count increased to 4100/mu l and 93.000/mu l, respectively. Liver function tests revealed a decrease in AST (63 U/L) and ALT (78 U/L) on the third day. The PLT count increased to 150.000/ml. Since the patient had no fever and had normal physical and laboratory findings, he was discharged from the hospital. For the confirmation of dengue fever diagnosis the serum sample was sent to National Public Health Center, Virology Reference and Research Laboratory where IgM and IgG antibodies against DENV types 1-4 were investigated by indirect. immunofluorescence method (Euroimmun, Germany). The serum sample yielded positive result at the dilutions of 1/1000 for IgM and 1/10.000 for IgG. The last dilution of type 3 DENV IgM and IgG were determined high density of fluorescein, thus the serotype was identified as "DENV type 3". Travel-related diseases become important with increasing travel opportunities, globalization and transportation, recently. As a result, this imported case with foreign nationality was the first dengue fever case confirmed by clinical and laboratory tests in Turkey