Transcranial sonography in patients with Parkinson's disease with glucocerebrosidase mutations

ObjectivesThe aim of this study was to search for possible differences in the findings of transcranial sonography (TCS) between groups of patients with glucocerebrosidase (GBA)-associated Parkinson's disease (PD) (4 patients with Gaucher disease type 1 and parkinsonism [GD+PD+] and 18 PD patients with heterozygous GBA mutations; [GBA+PD+]) and groups of 12 patients with Gaucher disease type 1 and no signs of parkinsonism (GD+PD?), 9 asymptomatic carriers of heterozygous GBA mutations (GBA+PD?), 32 sporadic PD patients (sPD), and 43 healthy controls.ResultsIn all groups of patients, except asymptomatic carriers of heterozygous GBA mutations (mean ± SD: 0.16 ± 0.03 cm²), the maximal areas of substantia nigra hyperechogenicity (aSN-max) was higher (GD+PD+: 0.28 ± 0.15 cm²; GD+PD?: 0.18 ± 0.06 cm²; GBA+PD+: 0.27 ± 0.06 cm²; sPD: 0.28 ± 0.10 cm²) when compared to controls (0.12 ± 0.08 cm²) (p = 0.001). In GBA-associated PD (GD+PD+ and GBA+PD+) and sPD, aSNmax values were very similar. Moderate or marked SN hyperechogenicity was present in 87.5% of sPD patients and in 83% of PD patients with heterozygous GBA mutations, but in only 11.6% of controls, and in 22.2% and 33.3% of patients from GBA+PD? and GD+PD? groups, respectively (p < 0.001). The prevalence of interrupted or missing echogenicity of the brainstem raphe differed between the groups (p = 0.046), while no difference was observed in the diameter of the third ventricle.ConclusionsTCS findings in GBA-associated PD were consistent to those of patients with sporadic PD.     

Numb chin syndrome with vagal and hypoglossal paralysis: an initial sign of an uncommon diagnosis

ABSTRACT:: In this study, the case of a 58-year-old man with a 2-month history of left chin paresthesia with difficulty swallowing and chewing, and dysphonia is reported. He had an absence of the gag reflex, unilateral palatal palsy and deviation of the tongue upon attempted protrusion with unilateral atrophy. Magnetic resonance imaging of the skull base revealed a tumoral infiltration of the left side of Meckel's cave, involvement of the clivus with extension into the cavernous sinus and signs of focal leptomeningeal infiltration. The patient was eventually diagnosed with generalized Burkitt's lymphoma. In this study, the authors suggest an initial diagnostic workup that includes a computed tomography scan of the mandible and a magnetic resonance imaging of the skull base searching for malignancy in patients with isolated numb chin syndrome, a rare disorder often associated with cancer, especially breast cancer and lymphoma, with mandibular metastases, leptomeningeal seeding and metastases of the base of the skull explaining the origin of the syndrome in most cases.     

Streptococcus milleri

The Streptococcus milleri group, which also includes S. anginosus, S. intermedius and S. constellatus, is found in the oropharynx and gastrointestinal tract mucosa. Recent isolations of S. milleri DNA sequences have been made from both gastric and oesophageal carcinoma. There are only a few publications on the isolation of viable bacteria and S. milleri DNA, and their role in carcinogenesis, in otorhinolaryngologic malignoma. We present four patients with a cervical abscess and the isolation of S. milleri -group bacteria, without signs of malignancy or other risk factors. After a delay of several months, squamous cell carcinoma of the oropharynx was diagnosed in three patients and a neck metastasis without primary tumor in the fourth.     

Can we improve the clinical risk score? The prognostic value of p53, Ki-67 and thymidylate synthase in patients undergoing radical resection of colorectal liver metastases

Objectives: The aim of this study was to assess whether biological markers can provide prognostic information additional to that supplied by the clinical risk score (CRS) in patients with colorectal liver metastases.Methods: A retrospective review of a prospectively maintained database was conducted. Patients selected for this study were treated between 1996 and 2011 with potentially curative liver surgery. Expressions of p53, Ki-67 and thymidylate synthase were assayed using immunohistochemical techniques on tissue microarrays.Results: A total of 98 (24%) of 406 patients met the inclusion criteria. The median follow-up was 103 months. Analysis revealed a correlation between p53 protein overexpression and high CRS (P = 0.058). Following multivariate analysis, only high CRS remained as an independent negative prognostic predictor of survival (P = 0.018), as well as an indicator of early recurrence of disease (P = 0.010). Of the biological markers investigated, only Ki-67 overexpression was identified as a positive predictor of survival on multivariate analysis (P = 0.038).Conclusions: Ki-67 overexpression was a positive predictor of survival. Only high CRS remained an independent negative prognostic predictor.     

Influence of the level of renal insufficiency on endoscopic changes in the upper gastrointestinal tract

AIM: Lesions of the gastrointestinal tract are frequent finding in uremic patients but their actual nature is not completely clear. The aim of this study was to detect any correlation between endoscopic lesions of patients with different levels of renal insufficiency. METHODS: This prospective study involved 244 cases, with dyspeptic difficulties including 124 patients in different stages of renal insufficiency, and a control group of 120 patients with normal renal function. Upper esophagogastroscopy was performed in all patients because of the appearance of dyspeptic difficulties. Helicobacter pylori infection was detected by the urease test. RESULTS: H. pylori infection (P=0.009), gastric erosions (P=0.019), gastric ulcer (P=0.002), and duodenal ulcer (P<0.001) were more common in the control group of patients. Significant negative correlations were found between the level of renal insufficiency and H. pylori infection (Kendall's tau=-0.346; P=0.003), stomach erosions (Kendall's tau=-0.272; P=0.019), stomach ulcer (Kendall's tau=-0.347; P=0.003), and duodenal ulcer (Kendall's tau=-0.531; P<0.001). CONCLUSIONS: In patients with end stage renal disease, endoscopic lesions of the gastrointestinal tract are detected less frequently in relation to patients without kidney disease.     

Alcohol Drinking Among Kosovar Adolescents: An Examination of Gender-Specific Sociodemographic,Sport, and Familial Factors Associated With Harmful Drinking

Background: Adolescent alcohol consumption is a significant public-health problem, although there is a lack of studies investigating this issue in Kosovo. Objectives: The aim of this investigation was to examine the prevalence of alcohol drinking, and the factors associated with harmful drinking (HD) in Kosovar 17–18 years old adolescents. Methods: The sample comprised 636 girls and 366 boys (17–18 years old) from Pristina, Kosovo. The independent variables included sociodemographic factors, variables examining familial-monitoring and conflict (familial-variables), and sport-factors. Alcohol-drinking (dependent variable) was measured by means of the alcohol use disorders identification test scale. Results: 39% of the girls and 43% of the boys reported HD (odds ratio (OR) = 1.17; 95% confidence interval = 0.90–1.55). A higher likelihood of HD is found for those girls whose mothers have an advanced education (OR = 1.59), who reported a higher level of conflict with their parents (OR = 1.95), whose parents are frequently absent from home (OR = 1.93), and who reported lower religiosity (OR = 0.90). HD is more frequent among boys who have participated longer in sports (OR = 1.49), whose fathers have an advanced education (OR = 1.80), and who reported higher level of familial conflict (OR = 2.87). Conclusions/Importance: The prevalence of HD is high. Knowing the problems related to alcohol drinking in girls (violence, trafficking, etc.), public-health authorities should urgently develop a specific preventive programme (SPP) to combat the misuse of alcohol. In preparing SPP, special attention should be paid to the varying influences of the studied factors on HD in boys and girls.     

Acute presentation of a solid pseudopapillary tumor of the pancreas

We report a case of acute presentation of a solid pseudopapillary tumor of the pancreas in a young boy who had suffered a blunt abdominal trauma. Urgently performed CT examination and repeated ultrasound revealed a subhepatic mass, which gradually increased in size, but the imaging features were not specific enough to permit a precise diagnosis. Because signs of peritoneal irritation and increased circulatory instability gradually developed within the hours of observation, the decision was made to perform an urgent exploratory laparotomy. The exploration revealed a hematoperitoneum and a large hematoma-like subhepatic bleeding mass. Further exploration showed that this mass was a tumor arising from the head of the pancreas, which had ruptured on the surface. A curative pancreatoduodenectomy was performed. Pathohistological examination of the resected specimen revealed a solid pseudopapillary tumor of the pancreas, an extremely rare tumor predominantly occurring in adolescent girls and in young adult women. It has a favorable prognosis if resected radically. The boy in our report is feeling well 36 months after the operation.