Nasal angiomyolipoma

Angiomyolipomas (AMLs) are hamartomatous lesions containing smooth muscle, vasculature and mature adipose tissue. AML occurs most frequently in the kidneys, with the liver being the second commonest site of involvement. Other localizations for AML are extremely rare and, to our knowledge, only six cases of AML of the nasal cavity have been reported to date. Our case involved a 52-year-old male who presented with a history of snoring and obstruction of the left nasal cavity. Physical examination revealed a 3-cm polypoid mass in the left nasal cavity, which was excised surgically. Histopathologic examination revealed that the lesion was composed of smooth muscle bundles, mature adipose tissue and blood vessels of different sizes. No epitheloid smooth muscle cells were observed and HMB-45 staining was negative. In conclusion, although nasal AML is a rare lesion, it should be considered in the differential diagnosis of polypoid nasal masses, especially when the mass occurs unilaterally.     

Effects of psychotherapy on hippocampal volume in out-patients with post-traumatic stress disorder: a MRI investigation

BACKGROUND: Magnetic resonance imaging (MRI) studies have especially reported smaller hippocampal volume in patients with post-traumatic stress disorder (PTSD), most of them war or sexual abuse victims. The present study compares the hippocampal volumes of out-patients with PTSD who had low co-morbidity rates to those of trauma-exposed control subjects without PTSD, and measures hippocampal volume changes in these patients after brief eclectic psychotherapy. We hypothesized that smaller hippocampal volumes are specific to PTSD and that hippocampal volume changes after effective psychotherapy would be measurable. METHOD: Eighteen patients with PTSD and 14 traumatized control subjects were examined with MRI. In a randomized clinical trial, the PTSD patients were assigned to treatment (n = 9) or waiting-list group (n = 9). After the former received psychotherapy for 4 months, the MRI was repeated on both PTSD groups. Three temporal lobe structures were manually segmented: hippocampus, amygdala, and parahippocampal gyrus. Volumetric analysis was used to measure grey matter, white matter, and cerebrospinal fluid. RESULTS: PTSD patients had significantly smaller hippocampal volumes at baseline (total 13.8%, right 13.5%, left 14.1%) compared to the control subjects. After effective psychotherapy, however, no volume changes were found in the smaller hippocampi. CONCLUSIONS: We confirmed previous findings of smaller hippocampal volume in PTSD in a new population made up of out-patients who experienced different types of traumas, reducing co-morbidity to a minimum. Smaller hippocampal volumes did not change after effective psychotherapy, even while symptoms resolved.     

Diabetes per se and metabolic state influence gene expression in tissue-dependent manner of BB/OK rats

BACKGROUND: Several epidemiologic studies have clearly established that long-term near normoglycaemia strongly protects against onset and progression of late complication of diabetes. Therefore, insulin treatment plays a crucial role in determining the quality of life of affected individuals. Here we studied the effects of exogenous insulin on gene expression levels in well- and poorly compensated diabetic subjects in comparison to non-diabetic BB/OK rats to find out whether diabetes per se and the quality of insulin treatment have an effect on gene expression and whether it is tissue specific. METHODS: Six non-diabetic and 12 diabetic BB/OK rats were studied. Diabetic subjects were either treated with insulin implants (well compensated) or treated with 1U insulin daily (poorly compensated) to guarantee survival. Four weeks after onset of diabetes, the animals were killed and expression of Yy1, Ppargamma, Nfkappab, Pref-1, Tgfb1, Il-10, and Lepr was measured in thymus, spleen, liver, heart, and bone. RESULTS: In general, between diabetic and non-diabetic subjects, significant expression changes were detected in spleen for Il-10, in heart for Il-10 and Ppargamma, in liver for Yy1, Nfkappab, and Lepr, as well as in bone for all genes studied except Tgfb1. Except Lepr, no expression changes were observed in thymus. Between well- and poorly compensated rats, significant differences on expression level were found for Yy1 (liver), Ppargamma (heart), Nfkappab (bone), Pref-1 (spleen), and Lepr (thymus, liver, heart). CONCLUSION: The insulin treatment compensates not only metabolic disturbances but also changes gene expression profile in BB/OK rats in a tissue-dependent manner.     

Prenatal echocardiographic diagnosis of congenital heart disease: comparison of past and current results

The increased experience in interpretation of fetal echocardiographic images may change the accuracy of fetal echocardiography in diagnosing fetal heart defects. We thus decided to evaluate the specificity and the sensitivity of our fetal echocardiographic examinations in diagnosing congenital heart disease, focusing especially on the outcome of complex cardiac pathologies. Between October 1999 and July 2003, 642 fetuses were followed until birth and underwent a postnatal reassessment of the cardiovascular system in our institution. These cases constitute our cohort. The postnatal reassessment was mainly done by echocardiography; some cases also had angiography. In case of intrauterine or postnatal death, an autopsy was performed. The prenatal and postnatal diagnoses were compared, and specificity and sensitivity of fetal echocardiography for congenital heart pathologies were determined. Among 45 affected pregnancies, 31 cases had complex and 14 had significant cardiac defects. The sensitivity of fetal echocardiography for cardiac anomalies was 93.3%; the specificity was 100%. Compared to our previous study, the sensitivity was remarkably improved (in our previous study sensitivity was 78% and specificity 100%). Echocardiography is a very useful and reliable tool in the evaluation of the fetal cardiovascular system, and has high sensitivity and specificity for congenital heart diseases.     

Dysphagie durch tuberkulöse mediastinale Lymphadenitis und Ösophagitis

Background

Infections, foreign bodies, neoplasias, malformations, peptic esophagitis and psychogenic disorders should be considered as causes of dysphagia in childhood.

Case report

An 8-year-old boy suffered from fever, loss of weight and painful dysphagia after a holiday in Turkey. He revealed an elevetad ESR, a positive tuberculin skin test but a normal chest X-ray. Under suspicion of an extrapulmonary tuberculosis we performed a barium swallow showing a protrusion into the esophageal lumen in the middle third caused by enlarged mediastinal lymph nodes detected by CT scans. Endoscopy only revealed a non specific esophagitis. Tuberculosis was confirmed after esophagoscopy combined with endosonographically guided biopsy of mediastinal lymph nodes. An antituberculous therapy led to a rapid decrease of the mediastinal mass and improvement of dysphagia.

Conclusion

Extrapulmonary manifestations of mycobacterial infections have become rare. Only 2% of mycobacterial infections of the gastrointestinal tract are localized in the esophagus, but anamnestic hints and clinical signs such as dysphagia must induce radiologic and endoscopic diagnostic procedures.     

Antitissue transglutaminase and antithyroid autoantibodies in children with Down syndrome and celiac disease

OBJECTIVES: We measured circulating autoantibodies and evaluated the potential of circulating antitissue transglutaminase (tTG) antibodies to determine the presence of celiac disease (CD) in children with Down syndrome. METHODS: An ELISA based on recombinant human tTG was used to measure the levels of immunoglobulin A and immunoglobulin G antibodies in serum samples from 72 children with Down syndrome, 52 children with biopsy-verified CD, 21 disease controls with a normal small intestinal mucosa and 23 healthy controls. Of the 72 Down syndrome children, 11 under-went a small intestinal biopsy. RESULTS: Four of 72 children with Down syndrome were diagnosed as having CD and three of them had serum levels of immunoglobulin A tTG antibodies greater than 6 U/mL (668, 147 and 7 U/mL). One Down syndrome child with biopsyproven CD had normal levels of immunoglobulin A tTG. Two Down syndrome children had increased levels of immunoglobulin A tTG (13 and 7 U/mL) but none of these children had an intestinal biopsy performed. Of the 52 CD subjects (median 664 U/mL) one was negative for immunoglobulin A tTG (5 U/mL) and all healthy controls (median 1.2 U/mL) and disease controls (median 0.9 U/mL) had immunoglobulin A tTG antibody levels less than 6 U/mL. Two of four Down syndrome children with CD and 36 of 52 celiac children had increased serum levels of immunoglobulin G tTG antibodies. There was no correlation between the serum levels of tTG and antithyroid autoantibodies. CONCLUSIONS: Although the diagnosis of CD depends on histologic evaluation of intestinal biopsies, detection of anti-tTG antibodies provides a useful complementary diagnostic method for CD in children with Down syndrome.     

Cerebral salt wasting in tuberculous meningitis: treatment with fludrocortisone

Three cases of cerebral salt wasting complicating tuberculous meningitis are described. Diagnosis was based on hyponatraemia associated with high urinary sodium excretion and inappropriately high urine output in the presence of dehydration. Treatment with fludrocortisone resulted in sodium and fluid homeostasis.     

Significance of HPV tests on women with cervical smears showing ASCUS

BACKGROUND: The relationship between the human papillomavirus (HPV) tests and the cytological findings was evaluated. METHODS: Totally, 161 women participating in the organized cytological screening in the County of Uppsala and showing atypical squamous cells of uncertain significance (ASCUS) in their cervical smears were identified during 2002 and 2003. Those women were invited for a repeated examination about 3 months later. At that occasion, a smear sample was collected and used for cytological examination and a concomitant HPV test. Oncogenic HPV was identified by polymerase chain reaction and HPV deoxyribonucleoside acid (DNA) sequence analysis in 50 cases and by Hybrid Capture II in 111 cases. RESULTS: Women with an ASCUS diagnosis showed a normal cytology and a negative HPV test in 30% of the cases, abnormal cytology and a positive HPV test in 32% of the cases; in 26% of the women, the HPV test was positive, whereas cytology was normal; and in 11% of the women, the HPV test was negative, whereas cytology was abnormal (ASCUS or more). CONCLUSION: The results show that HPV tests identify a larger group of women at risk to develop cervical cancer in comparison with cytological examination. As the HPV tests have a higher sensitivity than the cytological screening, it is suggested that an HPV test in conjunction with a diagnosis of ASCUS can be employed to more efficiently select women, to whom further follow up is recommended.