Gunshot and blast injuries of the extremities: a review of 45 cases

European Journal of Orthopaedic Surgery & Traumatology - Gunshot wounds and blast injuries constitute a major public health problem, as the increasing availability of firearms and explosives in...     

Endocrine pancreatic insufficiency in chronic pancreatitis.

Chronic pancreatitis (CP) is considered to be a rare cause of diabetes mellitus. However, in both the developed and developing world, there is an increasing number of patients suffering from pancreatitis probably due to lifestyle changes, which is partially associated with both social factors and the poor health status of immigrants. Owing to these circumstances, CP has evolved with one of the possible causes of diabetes in a selected group of patients and should be included in the differential diagnosis of diabetes. Several studies have shown that the long-term rate of diabetic complications in patients with CP and insulin-dependent diabetes is similar to that in patients with type 1 diabetes of equal duration. The hypothesis that early diagnosis of CP should result in better prognosis is not validated and may complicate the issue, since the risk of diabetes has been shown to increase significantly only once pancreatic calcification has developed. Accumulative evidence suggests that the risk of diabetes is not influenced by elective pancreatic surgical procedures other than distal pancreatectomy. The lack of contemporary data points to the urgent need for large prospective studies in order to accurately evaluate the special characteristics of disorders in glucose homeostasis in patients with CP.     

Pancreatic Cancer Prognosis,Malnutrition Risk,and Quality of Life: A Cross-Sectional Study

The present cross-sectional prospective study (from January 2017 until December 2020) aimed to evaluate the interrelation between nutritional parameters at the initial evaluation with the changes in QOL indicators and the Progression-Free Survival and Overall Survival in 97 patients with pancreatic cancer. Dietary and nutritional risk assessments, and an evaluation of Frailty and Functional Status were performed. Health-related Quality of Life was evaluated with the EORTC QLQ-C30 questionnaire. Nutritional risk, as evaluated by MNA-SF score, was negatively associated with age (p = 0.003) and positively associated with dynamometry (p = 0.001). In addition, there was a statistically significant difference in the financial difficulties (p = 0.049). OS and PFS were found to decrease in patients who reported having increased fatigue (OS p = 0.007 and PFS p = 0.044). Moreover, higher prevalence of constipation resulted in lower OS and PFS (OS p < 0.001 and PFS p < 0.001) and increased reporting of gastrointestinal problems during the 3 months was connected with lower survival (OS p = 0.017). According to the analysis, our patients were found to have lower OS and PFS, stressing out the necessity to provide early identification and management to symptoms of the disease that could compromise nutritional status. The provision of nutritional advice and guidance is of major importance for patients.     

Retrograde acucise endopyelotomy: is it worth its cost?

PURPOSE: To identify patients with ureteropelvic junction (UPJ) obstruction who will benefit from endoscopic Acucise incision of the stenosis and to compare the open Hynes-Anderson pyeloplasty with this minimally invasive technique. PATIENTS AND METHODS: In a prospective trial, 22 patients with primary and secondary UPJ obstruction were treated by Acucise endopyelotomy, and 18 patients were treated by Hynes-Anderson pyeloplasty. Preoperative and postoperative renal scans were used to determine the degree of obstruction and intravenous urography, ultrasound scanning, or both to assess the degree of dilation. RESULTS: There was a vast difference in the cure rate of the two groups: Hynes-Anderson pyeloplasty cured 94.5% of the patients, while in the Acucise group, the cure rate was only 32%. There was some improvement in another 22% of the patients, but the renal scan curve remained obstructed. The remaining 45% of patients failed to show any improvement. CONCLUSION: Acucise endopyelotomy will improve or cure only patients with good renal function and mild dilation of the pelvicaliceal system. Patients with severe dilation should be treated by Hynes-Anderson pyeloplasty.     

Prolonged jaundice and hypothyroidism as the presenting symptoms in a neonate with a novel Prop1 gene mutation (Q83X)

OBJECTIVE: To identify the genetic defect in a neonate presented with prolonged jaundice and central hypothyroidism. DESIGN: Central hypothyroidism was detected in a neonate initially examined for prolonged jaundice, and levothyroxine therapy was initiated. Direct sequencing of the Prop1 gene was carried out and pituitary function and morphology were evaluated using hormonal testing and magnetic resonance imaging (MRI) respectively. METHODS: Dynamic hormonal testing was carried out using established methodologies. Hormones were determined by RIA or chemiluminescence immunoassays. Genomic analysis of the Prop1 gene was performed by direct sequencing. MRI protocol: sagittal spin echo T2-weighted scans 2500/90 (TR/TE), plain and contrast-enhanced sagittal and coronal spin echo T1-weighted scans 500/20 (TR/TE). RESULTS: Low thyroid hormones (coupled with lack of TSH rise), low GH, normal cortisol and normal prolactin values were detected. Direct sequencing revealed the presence of two mutations in the Prop1 gene: GA296del and Q83X. The Q83X was further confirmed by PvuII restriction digestion and represented a novel Prop1 gene mutation, which was not detected in 100 controls tested. Pituitary enlargement was detected, with respect to normal-for-age controls. CONCLUSIONS: (i) The Q83X mutation extends the spectrum of Prop1 gene mutations; (ii) central hypothyroidism in a neonate might constitute the initial sign of Prop1 gene defect; (iii) the patient is the youngest individual with Prop1 gene defect and pituitary enlargement presented to date; and (iv) early detection of Prop1 gene mutations facilitates genetic counseling and ensures prompt management of the anticipated hormonal insufficiencies.     

Epigenetic mechanisms regulate sex-specific bias in disease manifestations

Journal of Molecular Medicine - Sex presents a vital determinant of a person’s physiology, anatomy, and development. Recent clinical studies indicate that sex is also involved in the...     

Assessment of thyroid function in two hundred patients with beta-thalassemia major.

Despite improved hematologic care, multiendocrine dysfunction is a common complication of homozygous transfusion-dependent beta-thalassemia. In this study our goal was to estimate the prevalence of thyroid dysfunction in a large homogenous group of thalassemic patients. Two hundred patients with beta-thalassemia major (100 males and 100 females; mean age, 23.2 +/- 6.7 years; age range 11-43 years), regularly transfused and desferioxamine chelated, were randomly selected from a pool of approximately 800 patients with beta-thalassemia followed in our department. Thyroid function and iron-load status were evaluated by measurements of free thyroxine (FT4), free triiodothyronine (FT3), thyrotropin (TSH), and serum ferritin levels. Of the subgroup of patients who proved to have normal thyroid hormone values, 26 (12 males, 14 females; mean age, 23.6 +/- 6.8 years; age range, 15-36 years) were randomly selected and underwent a standard TRH stimulation test. Thyroid dysfunction was defined as follows: overt hypothyroidism: low FT4 and/or FT3, increased TSH levels; subclinical hypothyroidism: normal FT4, FT3, increased TSH levels; exaggerated TSH response: normal FT4, FT3, normal basal TSH, deltaTSH > or = 21 microIU/mL (TSH levels measured prior and 30 minutes after intravenous TRH administration). Normal thyroid hormone values were found in 167 (83.5%) of the 200 patients studied. Eight (4%) of the remaining patients had overt hypothyroidisim, and 25 (12.5%) had subclinical hypothyroidism. Exaggerated TSH response to TRH was revealed in 7 of the 26 patients with normal hormone values tested (26.9%). Antithyroglobulin and anti-thyroid peroxidase (TPO) antibody titers were negative in 191 patients (95.5%). Mean ferritin levels in hypothyroid and euthyroid patients were 2707.66 +/- 1990.5 mg/L and 2902.9 +/- 1997.3 mg/L, respectively, (p = 0.61), indicating no correlation between ferritin levels and thyroid functional status. Mean ferritin levels in the patients who responded normally to TRH stimulation and in those who overresponded, were 2,586 +/- 1791 mg/L and 3,228 +/- 2473 mg/L, respectively (p = 0.46; NS). Thyroid failure is a rather rare endocrine complication in patients with beta-thalassemic from Greece. In our series, no case of central hypothyroidism was observed. No correlation was found between thyroid functional status and ferritin plasma levels. Approximately 1 of 5 beta-thalassemic patients with normal thyroid hormone values showed an exaggerated TSH response to TRH test. It is to be investigated how many of these patients will establish overt or subclinical hypothyroidism in the future.     

Disappearance of a growth hormone secreting macro adenoma during long-term somatostatin analogue administration and recurrence following somatostatin withdrawal

Acromegaly is caused by excessive growth hormone secretion, usually from a pituitary adenoma. The use of somatostatin analogues as primary or adjunctive therapy has been widely applied in the management of acromegaly. We are aware of only three reported cases of complete shrinkage of a pituitary adenoma after long-term analogue administration. However in these cases, the reduction in the dimension of the adenoma was obtained with the everyday use of somatostatin analogues and not with the newer longer acting formulations. We report a patient in whom long term (62 months) lanreotide-L.A.R administration resulted in complete disappearance of a growth hormone secreting pituitary macroadenoma, followed by recurrence of the adenoma six months post therapy discontinuation.     

Spontaneous pregnancy and birth of a normal female from a woman with Turner syndrome and elevated gonadotropins

OBJECTIVE: To provide data for pregnancies in girls with Turner syndrome. Only 5%-10% of TS girls undergo spontaneous puberty and have menses. Spontaneous pregnancy occurs in 2%-7% of TS girls and is associated with a high rate of miscarriages, stillbirths, malformations, and chromosomal aberrations. Besides fetal problems, pregnancy in TS girls is of high risk for the mothers as well. DESIGN: Case report. SETTING: Academic unit. PATIENT(S): One patient, now aged 28 years, was referred for short stature at age 13 years after an operation for coarctation of the aorta. The karyotype was 88% 45X, 5% 46XX, 5% 47XXX, 2% XO+Fr. The gonadotropin values at presentation and on follow-up ranged from high normal to high levels. Pubertal development and menses occurred spontaneously. At the age of 20 and 21 years, dominant follicles of 14 and 17 mm, respectively, were found on sonography. She conceived spontaneously at the age of 26 years and had an uneventful pregnancy, giving birth to a normal girl with normal chromosome constitution and birth weight of 2,800 g. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Pregnancy outcome. RESULT(S): Successful spontaneous pregnancy. CONCLUSION(S): Bearing in mind the serious problems of fertility and pregnancy outcome encountered in TS girls, we considered such a rare escape from the expected course of biological events to be worth reporting.