Factors affecting mortality in Pediatric Severe Head Injury

Aim: It is aimed to determine the factors affecting mortality in pediatric patients followed up with severe traumatic brain injury in the pediatric intensive care unit. Material and method: All patients followed up in the Pediatric Intensive Care Unit between April 2019 and April 2021 due to severe traumatic brain injury were included. Demographic characteristics, pre-intensive care interventions and imaging findings, treatments applied in intensive care and intervention information of all patients were collected. Results were evaluated as survival rate, presence of tracheostomy requirement, brain death, and Pediatric Cerebral Performance Scale at discharge. The patients divided into two groups as survivors and non-survivors. All obtained data were compared between the two groups. Results: During the study period, 47 patients with a diagnosis of severe traumatic brain injury were followed up. It was observed that the requirement of cardiopulmonary resuscitation, the need for inotrope-vasopressor and the need for erythrocyte transfusion were statistically significantly higher in the non-survivor group. (p value, respectively: 0.001, 0.001, 0.001) The survival rate in all patients in the study group was 70.2%. In non-survivor group most common pupil response at admission was fixed-dilated (71.4%). In non-survivor group 60% of the patients were lost in the first 24 hours of intensive care. Conclusion: Mortality increases in patients who need resuscitation, erythrocyte transfusion and inotrope before intensive care. Patients who died showed pathologic pupillary response and low GCS. Severe TBH patients died mostly in first 24 hours of admission

Previous, simultaneous, or subsequent occurrence of malignant tumours in patients with primary hyperparathyroidism: a closer look at the single-tertiary-centre cases

Introduction: Our aims were to explore the relationship between primary hyperparathyroidism (pHPT) and malignant tumour development, to determine the frequency and the time of occurrence of malignant tumours in patients with pHPT, and to evaluate the characteristics of pHPT in these patients. Material and methods: This retrospective cohort study included consecutive individuals who were diagnosed with pHPT aged 18 years or older in a university hospital during a 7-year period. A total of 198 patients with pHPT were reviewed retrospectively. Demographic, clinical, biochemical, radiologic findings, and histopathological diagnosis were collected from the electronic medical records of the hospital system. Results: The mean age of the study population was 58 ± 13 years and was predominantly female (female/male: 162/36). There were 42 (21.2%) patients with malignant tumours. Five (12%) out of 42 patients had metachronous double malignancies. The most common 2 concurrent malignancies were breast (36.1%) and thyroid (17.0%). Sixty-eight per cent of the malignant tumours occurred before the diagnosis of pHPT. A higher percentage (87.5%) of simultaneous tumours was seen in the thyroid gland. No statistically significant differences were observed between patients with and without malignant tumours in terms of demographic, clinical, biochemical, radiological, and histopathological features. The median follow-up duration was 24 months after parathyroid surgery. Conclusion: The results of this study revealed that pHPT was associated with various tumour types. The frequency of malignant tumours was 21.2%. Breast and thyroid cancers were the most common 2 cancers coexisting with pHPT. A large percentage of malignant tumours occurred before the diagnosis of pHPT. A higher percentage of simultaneous tumours was seen in the thyroid gland. pHPT patients with and without malignant tumours seemed to have similar characteristics

The evaluation of the relationship between insulin resistance, fatty liver and visfatin levels in overweight and obese woman

Obezite, vücutta normalden fazla yağ birikmesi ile karakterize olan, genetik ve çevresel faktörlerin etkileşimi sonucu ortaya çıkan kronik bir hastalıktır. Epidemiyolojik çalışmalar, obezitenin ortak özelliği insülin direnci olan pek çok metabolik bozukluk için bir risk faktörü olduğunu ortaya koymuştur. Bu metabolik bozukluklardan biri de non alkolik yağlı karaciğer hastalığı olup, obezitenin artması ile prevalansında dramatik bir artış olmuştur. Ayrıca obezitenin immün sistemde düşük dereceli kronik bir inflamasyona neden olduğu da gösterilmiştir. Adipoz dokuda, artan obezite ile orantılı olarak makrofaj sayısı ve salgılanan proinflamatuvar sitokin miktarı artmaktadır. C-reaktif protein (CRP) bu sitokinlerden biri olup sistemik inflamasyona cevap olarak karaciğerden salgılanmaktadır. Adipoz dokunun kendisi de obeziteye bağlı CRP oluşturabilmektedir. Başlıca enerji deposu olarak bilinmesinin yanında, son yıllarda yapılan çalışmalar adipoz dokunun adipokin adı verilen çeşitli önemli proteinleri salgılayan metabolik olarak aktif bir doku olduğunu göstermiştir. Bu adipokinlerden biri olan visfatin ile insülin direnci, inflamasyon ve non alkolik yağlı karaciğer hastalığı arasındaki ilişkiyi araştıran çalışmalar çelişkili sonuçlar vermiş, bazı araştırmacılar ilişki bulurken, bazıları bulamamıştır. Biz bu çalışmamızda kilolu ve obez kadınlarda insülin direnci, karaciğer yağlanması ve visfatin düzeyi arasındaki ilişkiyi değerlendirmeyi amaçladık.Çalışmaya beden kitle indeksi (BKİ) 25 kg/m2 ve üzerinde olan non-diyabetik 67 kadın hasta dâhil edilmiştir. Olgular BKİ'lerine göre üç gruba ayrılmışlardır. Hastaların antropometrik ve kan basıncı ölçümleri kaydedilmiştir. Biyokimyasal değerleri ve karaciğer ultrasonografi sonuçları dosyalarından elde edilmiştir. Visfatin analizi hastaların plazmalarından `Human Visfatin ELISA Kit' kullanılarak yapılmıştır. Elde edilen verilerin gruplar ile ilişkileri ve kendi aralarındaki korelasyon incelenmiştir.Çalışmamızda obezite derecesi arttıkça boyun, bel, kalça çevresinde ve kan basıncı ölçümlerinde artış olduğunu gördük. Gruplar arasında bel-kalça oranlarında istatistiksel olarak anlamlı fark yoktu. Obez gruplarda kilolu gruba göre insülin ve HOMA-IR değerleri anlamlı derecede yüksekti. BKİ ile CRP düzeyleri arasında korelasyon vardı. Fakat CRP ile HOMA-IR arasında ilişki bulunmadı. Gruplar arasında visfatin düzeyleri arasında anlamlı fark yoktu. Visfatin, obezite ve insülin direnci ile ilişkili bulunmadı. Ancak karaciğer yağlanması olan grupta visfatin düzeyleri belirgin şekilde düşüktü.Sonuç olarak, bulgularımız bize visfatin ile non alkolik yağlı karaciğer hastalığı arasında obeziteden bağımsız bir ilişki olabileceğini düşündürmüştür. Visfatin ile obezite, insülin direnci, CRP ve karaciğer yağlanması arasındaki ilişkiyi değerlendirmek ve daha kesin olarak ortaya koymak için daha geniş hasta popülasyonunun dahil edildiği çalışmalara ihtiyaç vardır.Obesity is a chronic disease that develops from the interaction between genotype and environmental factors, and is characterized as accumulation of fat more than normal in the body. Epidemiological studies revealed that obesity is a risk factor for many metabolic disturbances associated with insulin resistance. One of these metabolic disturbances is non alcoholic liver disease and there is a dramatic rise in its prevalence with the increase in obesity. Also it was shown that obesity causes a low degree of chronic inflammation in the immune system. In the adipose tissue there is a proportional increase in the amount of macrophage number and secreted proinflammatory cytokines, with the degree of obesity. C-reactive protein (CRP) is one of those cytokines which is released from the liver as a response to systemic inflammation. Besides being known as a major energy reservoir, studies in recent years showed that adipose tissue is a bioactive organ which can secrete a variety of proteins, known as adipokines. The studies investigating the relation between one of these adipokines namely visfatin and insulin resistance, inflammation and non alcoholic fatty liver disease gave conflicting results, some authors found relation, others could not. In our study, we aimed to examine the relationship between, insulin resistance, fatty liver and visfatin in overweight and obese female subjects. Sixty seven non-diabetic female subjects, having a body mass index (BMI) of 25 kg/m2 and over were included. Subjects were divided in three groups according to their BMI. The anthropometric and blood pressure measurements were recorded. Their biochemical values and liver ultrasonography results were provided from the file records. Visfatin analyses were studied from their plasma with the ‘Human Visfatin ELISA Kit’. The relationship between the data and groups, and the correlation with each other were examined. In our study we demonstrated that there was an increase in neck, waist, hip circumferences and blood pressure measurements with the increase in the degree of obesity (p<0.05). There was no difference in waist to hip ratio between groups. Insulin and HOMA-IR levels were significantly higher in obese groups compared to overweight group. There was a correlation between CRP and BMI levels but not with insulin resistance. There was no difference in visfatin levels between groups. Also visfatin was not found to be associated with obesity and insulin resistance. However, in fatty liver group visfatin levels were significantly lower (p=0.05). In conclusion, our findings suggest us that there may be an association between visfatin and non alcoholic fatty liver disease independent of obesity. So, studies that include larger patient populations are needed for the evaluation and clarification of the association between visfatin and obesity, insulin resistance, CRP and fatty liver

Determining residual adipose tissue characteristics with mri in patients with various subtypes of lipodystrophy

PubMed ID: 29044029PURPOSE We aimed to investigate residual adipose tissue with whole-body magnetic resonance imaging to differentiate between subtypes of lipodystrophy. METHODS A total of 32 patients (12 with congenital generalized lipodystrophy [CGL], 1 with acquired generalized lipodystrophy [AGL], 12 with familial partial lipodystrophy [FPLD], and 7 with acquired partial lipodystrophy [APL]) were included. RESULTS Despite generalized loss of metabolically active adipose tissue, patients with CGL1 caused by AGPAT2 mutations had a significant amount of residual adipose tissue in the scalp, earlobes, retro-orbital region, and palms and soles. No residual adipose tissue was noted particularly in the head and neck, palms and soles in CGL2 caused by BSCL2 mutations. CGL4 caused by mutations in the PTRF gene was characterized with well-preserved retro-orbital and bone marrow fat in the absence of any visible residual adipose tissue in other areas. No residual adipose tissue was observed in AGL. Despite loss of subcutaneous fat, periarticular adipose tissue was preserved in the lower limbs of patients with FPLD. Retro-orbital adipose tissue was surprisingly preserved in APL, although they lacked head and neck fat. CONCLUSION Lipodystrophies are a heterogeneous group of disorders characterized by generalized or partial loss of adipose tissue, which can be congenital or acquired. Our results suggest that residual adipose tissue characteristics can help distinguish different subtypes of lipodystrophy. © Turkish Society of Radiology 2017

<i>In silico</i> prediction of single nucleotide variations in the <i>PHEX</i> gene.

<p><i>In silico</i> prediction of single nucleotide variations in the <i>PHEX</i> gene.</p

Characterization of a large deletion of <i>PHEX</i> in patient V-3.

<p>(A) Genechip cytogenetics array results. The top is showing weighted log2 ratios plot showing a normal copy number state for the X chromosome. The deletion is indicated by a dark bar and enclosed in the black lines. More than 70 SNP probes are present in the deleted region and indicated by an arrow. (B) Schematic representation of 179,880 bp deletion of <i>PHEX</i> and <i>ZNF645</i>. The 5’ breakpoint is located in the intron 15 of <i>PHEX</i> and 7 kb from exon 15. The 3’ breakpoint point is 103 kb from <i>ZNF645</i>, resulting in the deletion of exon 16–22 of PHEX and entire <i>ZNF645</i>. The 5’ and 3’ undeleted nucleotide sequences are highlightted in bold. Deletion analysis is based on GRCh37/hg19. (C) Electropherogram of the breaking point. The DNA fragment was amplified by PCR using primers flanking the 5’ and 3’ deletion point. The breakpoint is indicated by an arrow.</p

Summary of clinical and laboratory findings in patients with hereditary hypophosphatemia.

<p>Summary of clinical and laboratory findings in patients with hereditary hypophosphatemia.</p

Clinical and laboratory characteristics of children with de novo or inherited <i>PHEX</i> mutations.

<p>Clinical and laboratory characteristics of children with de novo or inherited <i>PHEX</i> mutations.</p

Sequence analysis of <i>PHEX</i> in patients with hereditary hypophosphatemia.

<p>(A) Five novel <i>PHEX</i> mutations. c.983_987dupCTACC (patient II-3 and her mother) and c.436+1G>T (patient IX-3 and his mother) are inherited mutations from mother; c.1586+2T>G (patinet IV-3), c.1206delA (patient XV-3), and c.1217G>T (patientVI-3) are de novo mutations not present in parents. The c.1586+2T>G results in exon 14 skipping. (B) Six previously reported <i>PHEX</i> mutations. c.1645C>T, c. 187+1G>T, and c.2104C>T are de novo mutations. c.1601C>T, c.2239C>T, and c.1404+1del G are inherited mutations transmitted from mother. Mutation is indicated by an arrow.</p

Sequence analysis of <i>SLC34A3</i> in a patient with hereditary hypophosphatemia.

<p>A novel heterozygous mutation c.1639-1652del14 is present in the mother, patient, and his sister. A novel heterozygous splice donor site mutation c.1335+2T>A is present in the father, patient, and his sister. Compound heterozygous <i>SLC34A3</i> mutations are carried by both patient and his sister. Mutation is indicated by an arrow.</p