Technetium-99m pertechnetate planar scintigraphy is the procedure of choice to localize ectopic gastric mucosa. However, single photon emission computed tomography/computed tomography (SPECT/CT) ...provides precise landmarks and scintigraphic findings. We report a case of an adult patient with Meckel's diverticulum involving an atypical location, within the pelvic region, next to the right margin of the urinary bladder. Imaging characteristics supported the diagnosis of either Meckel's or bladder diverticulum. Single photon emission computed tomography /CT was the key method to obtain definite diagnosis, since the low-dose CT revealed the presence of air within the lesion of radiotracer uptake. This finding was suggestive of an outpouching of the bowel wall.
Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of neurodegenerative disorders mainly characterized by progressive spasticity of the lower limbs. Adult case ...series dominate the literature, and there have been only a few studies in children. The purpose of this study is to describe our experience with pediatric HSP in Greece. We report the clinical and genetic findings in our patients and aim to offer insights into the diagnostic difficulties of childhood-onset disease. A series of 15 Greek children affected by pure HSP underwent extensive diagnostic investigations. Molecular analysis included whole exome sequencing (WES) or consecutive screening of candidate genes
ATL1
,
SPAST
,
REEP1,
and
CYP7B1
. WES performed in three cases yielded previously reported mutations in
ATL1
and
CYP7B1
, and a variant c.397C>T of unknown significance in
SPG7.
Candidate gene screening performed in the remaining patients identified previously reported mutations in
ATL1
(2),
SPAST
(2), and
REEP1
(1), and two novel mutations, c.1636G>A and c.1413+3_6delAAGT, in
SPAST.
In six cases, the mutations were inherited from their parents, while in three cases, the mutations were apparently de novo. Our data confirm the genetic heterogeneity of childhood-onset pure HSP, with SPG4/
SPAST
and SPG3A/
ATL1
being the most frequent forms. De novo occurrence of HSP does not seem to be uncommon. Candidate gene studies guided by diagnostic algorithms and WES seem both to be reasonable genetic testing strategies.
Abstract
E2F-1 is the best-described member of the E2F family of transcriptional factors and is particularly interesting in view of its often opposing roles. Our purpose was to examine the ...immunohistochemical expression of E2F-1 in Hodgkin lymphoma (HL) and to correlate it with proliferation and apoptosis of the tumor, clinicopathological parameters and patient outcome, as well as with expression of the downstream molecules p53 and p21. The median percentage of E2F-1-expressing Hodgkin Reed-Sternberg (HRS) cells was 80.2%. A significant positive correlation was found between expression of E2F-1 and p53 (p = 0.034). Following stratification of our cases, within the group harboring functional p53, a statistically significant inverse correlation was identified between E2F-1 and Topo IIa (p = 0.019). E2F-1 is up-regulated in the context of HL and its expression is inversely associated with proliferation. It seems that functional p53 can modulate the relationship between E2F-1 expression and tumor kinetics in HL.
Neuroendocrine neoplasms of the gastric tube are less common than adenocarcinomas. Topography includes stomach, small intestine, Vater ampulla, and gross intestine. They are graded as neuroendocrine ...tumors grade I and II (NETs GI and GII) and neuroendocrine carcinomas GIII based on Ki-67 index and mitotic count. 1 Endoscopic treatment for GI NETs ≤1 cm that does not extend beyond the submucosal layer and does not demonstrate lymph node metastasis is recommended. Tumors ≥2 cm, with lymph node metastasis, are indicated for surgical treatment. The treatment strategy for tumors between 10 and 20 mm in size remains controversial. 2 We present a rare case of a 60-year-old male patient with end-stage renal failure who underwent a screening pretransplantation endoscopic control. Colonoscopy had no pathological findings. Gastroscopy reveals an abnormal mucosa in the anterior upper part of the duodenal bulb that was described as a micronodular mucosa and a central nodule of 6 mm with erythematous mucosa. Histology of the micronodular mucosa reveals a heterotopic gastric mucosa and a small hyperplastic polyp. Biopsies from the nodule reveal a carcinoid tumor (NET GI). Immunohistochemistry: Positive chromogranin levels, low mitotic index (1/10 HPF), and Ki-67 index <1% Figure 2. Gastrin levels were normal and chromogranin levels were abnormal (314 ng/ml, ULN <120 ng/ml). Spiral tomography of the thorax and the abdomen were normal. Endoscopic submucosal dissection is indicated for small NETs (≤1 cm). Laparoscopic and endoscopic cooperative surgery is a novel method, but the experience is limited. Surgery is the best choice for large NETs (>2 cm) and those of the duodenal bulb with histological extensions and the lack of assessing depth invasion.
Exogenous lipoid pneumonia is caused by inhalation or aspiration of a fatty substance. It constitutes a rare entity, with atypical clinical findings, such as chronic cough or dyspnea, and is ...accompanied by the presence of diffuse interstitial infiltrates in chest CT scans. We present the case of an exogenous lipoid pneumonia in a psychotic patient with inflammatory bowel disease and mega-esophagus. A 45-year-old man was referred for consultation due to chronic cough and abnormal findings on multiple X-rays during the past 3 months, and on a previous CT scan. He suffered from schizophrenia and chronic inflammatory bowel disease under azathioprine. He daily received oily laxatives due to constipation. During the past months he received several antibiotic treatment regiments without any clinical or radiological benefit. The CT scan revealed the presence of consolidative opacities with air bronchogram involving both lungs in the middle and lower lobes, upper lobe emphysema and a severely dilated esophagus. The patient underwent fiberoptic bronchoscopy, without any abnormal endobronchial findings. The bronchoalveolar lavage (BAL) fluid was examined with bacterial, fungal and mycobacterium cultures that were negative and a cytological study for malignant cells which was also negative. Because of high clinical suspicion, BAL specimens were also examined for lipid staining. The presence of numerous foamy alveolar macrophages with lipid vacuoles stained with Oil Red (O) confirmed the presence of fat, thus enhancing the diagnosis of exogenous lipoid pneumonia. Lipoid pneumonia can mimic many other pulmonary diseases and, because of the insidious onset and the atypical findings, can be misdiagnosed. BAL examination is a diagnostic method that can detect the presence of foamy alveolar macrophages with lipid vacuoles stained with Oil Red (O) or Sudan III, findings indicative of lipoid pneumonia, thus avoiding more invasive diagnostic procedures.
The objective of this study was to explore the ability of 3 regional climate models (RCMs), CNRM-Aladin, C4I-RCA3 and KNMI-RACMO along with their parental global climate models (GCMs), ARPEGE and ...ECHAM5, to represent the relationship between large-scale atmospheric circulation and climate extremes in the Mediterranean region. Subsequently, an evaluation and inter-comparison of these 3 RCM/GCM couples for the present climate was performed. For this purpose, the Regularised Canonical Correlation Analysis (RCCA) was employed and 4 extreme climate indices of temperature and precipitation were used to define extreme events over the study region. The evaluation of these relationships was carried out against gridded observational and reanalysis datasets. It was found that the observed upper air large scale patterns related to climate extremes in the Mediterranean are not very well reproduced by the RCM/GCM couples in all seasons. In addition, in many cases, the coupled models display patterns of extreme climate indices which are not consistent with the accompanied upper level circulation. Furthermore, all coupled models display substantial deficiencies in simulating precipitation extremes. In the case of summer data, the ability of all 3 models is limited, possibly because the strength of the large-scale atmospheric flow decreases, the control exerted by the lateral boundary conditions is weaker, and the nested models are mainly governed by local processes.
: We report the case of a 29‐year‐old man, who was examined in our hospital for infertility. After complete evaluation, the patient was found to be azoospermic with normal follicle‐stimulating ...hormone levels, whereas his testes were slightly smaller than normal. Thus, there was an indication for testicular biopsy, which showed bilateral testicular intratubular germ‐cell neoplasia, unclassified. The patient was informed about his status, and when the staging was completed and the possibility of distant or lymphatic metastases was excluded, the therapeutic choices were discussed. In this case, bilateral orchiectomy was recommended and carried out, followed by hormone replacement therapy.
We developed a clinical prediction rule for bone marrow involvement (BMI) in Hodgkin lymphoma based on 826 patients and validated it in 654 additional patients. Independent prognostic factors for BMI ...were x1, B symptoms; x2, stage III/IV prior to bone marrow biopsy; x3, anemia; x4, leukocytes fewer than 6 × 109/L; x5, age 35 years or older; and x6, iliac/inguinal involvement. Each factor was graded as xi = 1, if present, or xi = 0, if absent. A simplified score Zs = 8x1 + 6x2 + 5x3 + 5x4 + 3x5 + 3x6 – 8 was assigned to each patient. The sensitivity, specificity, and positive and negative predictive value of this prediction rule was 97.8%, 51.5%, 10.6%, and 99.8%, respectively. In the validation group, they were 98.1%, 40.3%, 12.7%, and 99.6%. According to Zs value, 3 risk groups for BMI were defined: low risk (Zs < 0, 44% of patients, 0.3% risk), standard risk (Zs, 0-9; 37% of patients; 4.2% risk), and high risk (Zs ≥ 10, 20% of patients, 25.5% risk). Patients with low risk (stage IA/IIA without anemia and leukopenia; stage IA/IIA, younger than 35 years, with either anemia or leukopenia but no inguinal/iliac involvement; and stage IIIA/IVA without any of these 4 risk factors) do not need bone marrow (BM) biopsy. Patients with standard risk should be staged with unilateral biopsy, but patients with high risk may benefit from bilateral biopsy.
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