[Osteogenesis imperfecta and spondylo-costal dysplasia in a male child]
MARIKOVA Olga, IVO Marik, KAZIMIERZ Kozlowski
AUGUST 20, 2004
Hungarian Radiology - 2004;78(04)
MARIKOVA Olga, IVO Marik, KAZIMIERZ Kozlowski
AUGUST 20, 2004
Hungarian Radiology - 2004;78(04)
[INTRODUCTION - Co-existence of osteogenesis imperfecta with another bone dysplasia is rare. That of osteogenesis imperfecta and spondylo-costal dysplasia has not yet been reported. CASE REPORT - The authors present a 13 year-old boy. He was disproportionate with shortening of the upper segment, and the upper and lower extremities, and he had dysmorphic face. His parents were healthy. Radiographs revealed osteogenesis imperfecta and spondylocostal dysplasia. CONCLUSION - Patients with two bone dysplasias have a much worse prognosis. Superimposition of any skeletal dysplasia on abnormal osteogenesis enhances the disposition to deformities and fractures.]
[The purpose of this overview is to demonstrate the recent results of breast diagnostics and the place of the imaging and interventional methods. Review of the most recent articles (September 2002- December 2003) in the following subjects: breast screening, digital mammography, computer assisted diagnosis, breast ultrasound, breast MRI, scintimammography, positron emission tomography, guided biopsies, other interventions, new diagnostical methods, percutaneous tumour ablation. Experiences about breast diagnostic methods are accumulating year-to-year rapidly. Therefore the current examination algorithm is changing continuously. New diagnostic and therapeutic modalities are entering in the daily routine. These are the reasons why the up-to-date knowledge of the literature is mandatory.]
Lege Artis Medicinae
[A 25-year-old mother was treated with clomifen (Clostilbegyt) during her pregnancy by accident. Ultrasound scan - performed at the 32nd gestational week – showed polyhydramnion and abnormally short, deformed fetal limbs. The newborn male infant died 20 minutes after cesarean section. Autopsy revealed osteogenesis imperfecta accompanied by a rare vessel alteration, arteriopathia calcificans infantum. The possible connection between the two diseases and the estrogen therapy is discussed. ]
Autism spectrum disorder is a neurodevelopmental disorder with a heterogeneous presentation, the etiology of which is not clearly elucidated. In recent years, comorbidity has become more evident with the increase in the frequency of autism and diagnostic possibilities of inborn errors of metabolism. One hundred and seventy-nine patients with diagnosis of autism spectrum disorder who presented to the Pediatric Metabolism outpatient clinic between 01/September/2018-29/February/2020 constituted the study population. The personal information, routine and specific metabolic tests of the patients were analyzed retrospectively. Out of the 3261 patients who presented to our outpatient clinic, 179 (5.48%) were diagnosed with autism spectrum disorder and were included in the study. As a result of specific metabolic examinations performed, 6 (3.3%) patients were diagnosed with inborn errors of metabolism. Two of our patients were diagnosed with classical phenylketonuria, two with classical homocystinuria, one with mucopolysaccharidosis type 3D (Sanfilippo syndrome) and one with 3-methylchrotonyl Co-A carboxylase deficiency. Inborn errors of metabolism may rarely present with autism spectrum disorder symptoms. Careful evaluation of the history, physical examination and additional findings in patients diagnosed with autism spectrum disorder will guide the clinician in the decision-making process and chose the appropriate specific metabolic investigation. An underlying inborn errors of metabolism may be a treatable cause of autism.
Although vertigo is one of the most common complaints, intracranial malignant tumors rarely cause sudden asymmetry between the tone of the vestibular peripheries masquerading as a peripheral-like disorder. Here we report a case of simultaneous temporal bone infiltrating macro-metastasis and disseminated multi-organ micro-metastases presenting as acute unilateral vestibular syndrome, due to the reawakening of a primary gastric signet ring cell carcinoma. Purpose – Our objective was to identify those pathophysiological steps that may explain the complex process of tumor reawakening, dissemination. The possible causes of vestibular asymmetry were also traced. A 56-year-old male patient’s interdisciplinary medical data had been retrospectively analyzed. Original clinical and pathological results have been collected and thoroughly reevaluated, then new histological staining and immunohistochemistry methods have been added to the diagnostic pool. During the autopsy the cerebrum and cerebellum was edematous. The apex of the left petrous bone was infiltrated and destructed by a tumor mass of 2x2 cm in size. Histological reexamination of the original gastric resection specimen slides revealed focal submucosal tumorous infiltration with a vascular invasion. By immunohistochemistry mainly single infiltrating tumor cells were observed with Cytokeratin 7 and Vimentin positivity and partial loss of E-cadherin staining. The subsequent histological examination of necropsy tissue specimens confirmed the disseminated, multi-organ microscopic tumorous invasion. Discussion – It has been recently reported that the expression of Vimentin and the loss of E-cadherin is significantly associated with advanced stage, lymph node metastasis, vascular and neural invasion and undifferentiated type with p<0.05 significance. As our patient was middle aged and had no immune-deficiency, the promoting factor of the reawakening of the primary GC malignant disease after a 9-year-long period of dormancy remained undiscovered. The organ-specific tropism explained by the “seed and soil” theory was unexpected, due to rare occurrence of gastric cancer to metastasize in the meninges given that only a minority of these cells would be capable of crossing the blood brain barrier. Patients with past malignancies and new onset of neurological symptoms should alert the physician to central nervous system involvement, and the appropriate, targeted diagnostic and therapeutic work-up should be established immediately. Targeted staining with specific antibodies is recommended. Recent studies on cell lines indicate that metformin strongly inhibits epithelial-mesenchymal transition of gastric cancer cells. Therefore, further studies need to be performed on cases positive for epithelial-mesenchymal transition.
Cognitive dysfunction (CD) is a common non-motor symptom of Parkinson’s disease (PD). Alexithymia is a still poorly understood neuropsychiatric feature of PD. Cognitive impairment (especially visuospatial dysfunction and executive dysfunction) and alexithymia share common pathology of neuroanatomical structures. We hypothesized that there must be a correlation between CD and alexithymia levels considering this relationship of neuroanatomy. Objective – The aim of this study was to evaluate the association between alexithymia and neurocognitive function in patients with PD. Thirty-five patients with PD were included in this study. The Toronto Alexithymia Scale–20 (TAS-20), Geriatric Depression Inventory (GDI) and a detailed neuropsychological evaluation were performed. Higher TAS-20 scores were negatively correlated with Wechsler Adult Intelligence Scale (WAIS) similarities test score (r =-0.71, p value 0.02), clock drawing test (CDT) scores (r=-0.72, p=0.02) and verbal fluency (VF) (r=-0.77, p<0.01). Difficulty identifying feelings subscale score was negatively correlated with CDT scores (r=-0.74, p=0.02), VF scores (r=-0.66, p=0.04), visual memory immediate recall (r=-0.74, p=0.01). VF scores were also correlated with difficulty describing feelings (DDF) scores (r=-0.66, p=0.04). There was a reverse relationship between WAIS similarities and DDF scores (r=-0.70, p=0.02), and externally oriented-thinking (r=-0.77,p<0.01). Executive function Z score was correlated with the mean TAS-20 score (r=-62, p=0.03) and DDF subscale score (r=-0.70, p=0.01) Alexithymia was found to be associated with poorer performance on visuospatial and executive function test results. We also found that alexithymia was significantly correlated with depressive symptoms. Presence of alexithymia should therefore warn the clinicians for co-existing CD.
Current views on the male breast cancer
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