Early pulmonary involvement in Niemann-Pick type B disease: lung lavage is not useful.

Niemann-Pick disease (NPD) is a rare, autosomal-recessively inherited lipid storage disease which is characterized by intracellular deposition of sphingomyelin in various body tissues. The disease is heterogeneous and classified into six groups. Pulmonary parenchymal involvement may be a feature of several subtypes of NPD, including type B. Progressive pulmonary involvement in NPD type B is a major cause of morbidity and mortality. It is usually diagnosed at older ages. Only a few cases with early pulmonary involvement have been reported. In this report, a patient with NPD type B, hospitalized with the diagnosis of pneumonia at age 3 months, is presented. Following treatment for pneumonia, she continued to have persistent respiratory symptoms and became oxygen-dependent. High-resolution computed tomography of the chest revealed diffuse interstitial changes. During follow-up, the patient developed hepatosplenomegaly. Lung, liver, and bone marrow biopsies showed characteristic findings for NPD. Biochemical studies also confirmed the diagnosis, and the sphingomyelinase enzyme level of the patient was low. Unilateral lung lavage was performed in order to decrease lipid storage as a treatment modality. However, there was no clinical or radiological improvement. The patient died at age 15 months due to progressive respiratory failure. Pulmonary involvement is a rare entity in early childhood in patients with NPD type B, but should be considered in the differential diagnosis of persistent interstitial lung disease. It may cause progressive respiratory failure, but the treatment options remain limited.

Alkaptonuria caused by compound heterozygote mutations.

Alkaptonuria is a rare autosomal recessive disorder of inborn errors of metabolism. It is characterised by the deposition of "ochronotic pigment" especially in connective tissue as a result of deficieny of the "homogentisic acid oxidase" enzyme which has a role in the catabolism of tyrosine and phenylalanine. A compound heterozygote alkaptonuria patient, with manifestations in adulthood, without infantile and childhood signs is presented. The described alkaptonuria mutations are reported for the first time in the Turkish population.

Expression of NM23 and tenascin in invasive ductal carcinomas of the breast.

OBJECTIVE: In this series of ductal carcinoma of the breast, immunoexpression of antimetastasis gene nm23 and tenascin was examined and the role in prognosis was investigated by correlation with the tumour grade and stage, and ER/PR immunoexpression. MATERIAL AND METHODS: In this study 27 ductal carcinomas of the breast were analysed for expression of tenascin and nm23 antimetastasis genes by immunohistochemistry. RESULTS: The results of our study revealed a statistically significant correlation between nm23-H1 immunoexpression and lymph node metastasis. We also found a statistically significant correlation between tenascin and nm23-H1 immunoexpression. Our results suggest that tenascin limits tumour spread. CONCLUSION(S): Antimetastasis gene expression can be used in predicting lymph node metastasis in ductal carcinomas of the breast.

Prevalence of human papillomavirus (HPV) DNA in larynx and lung carcinomas.

In this retrospective study, we investigated the HPV DNA occurrence in 21 laryngeal and 26 primary lung squamous cell carcinomas. Nonisotopic in situ hybridization (NISH) technique was performed with commercially available digoxigenin-labelled DNA probes for HPV screening. Subtyping for HPV subtypes 6/11, 16/18 and 31/33 was also performed. We observed HPV DNA signals in 10 (47.6%) cases of laryngeal SCC and in only 3 (11.5%) cases of lung SCC. Typing showed signals of HPV 6/11, 16/18 and 31/33 infection in 80%, 40%, 30% of the laryngeal carcinomas, respectively. In the lung, we demonstrated type 16/18 positivity in two and type 6/11 in one of the HPV-positive cases. We found a statistically significant correlation between HPV infection and tumour recurrence (p < 0.035) in laryngeal carcinomas, but not between HPV presence and tumour stage or grade in neither larynx nor lung.

Primary cardiac angiosarcoma.

Primary malignant cardiac tumors are extremely rare neoplasms. About three-quarters of all cardiac tumors are histologically benign. A 24-year-old man presented to the hospital with dyspnea and chest pain. A solid, dense, nonhomogeneous and rough-surfaced mass (89 x 90 x 36 mm) with protrusion into the right heart cavities was observed on transthoracic echocardiography. The findings were confirmed by transesophageal echocardiography and magnetic resonance imaging. The histopathology of the mass confirmed a diagnosis of angiosarcoma. No evidence of an extracardiac origin of the tumor was found by radiological body imaging. The patient died 2 months after presentation to the hospital.

Acute effect of inhaled budesonide on bronchial inflammation in asthmatic rats.

Although anti-inflammatory potency of inhaled corticosteroids is well established, little is known about their role in the acute phase. The aim of this study was to compare the acute anti-inflammatory effect of inhaled budesonide with systemic dexamethasone on allergen-induced inflammatory changes in asthmatic rats. Eighty-four Sprague Dawley rats were divided into four groups; group I (control, n = 24), group II (ovalbumin sensitized, n = 24), group III (systemic dexamethasone, n = 24), and group IV (budesonide, n = 12). All groups except group I were given ovalbumin aerosol challenges 14 days after sensitization with ovalbumin. The same procedure was applied to the control group using 0.9% saline. Group III received dexamethasone 0.3 mg/kg intraperitoneally and group IV received inhaled budesonide 10mL (0.5mg/mL) twice before the challenge. Eight hours after the challenge, bronchi of all the rats were evaluated for the degree of peribronchial inflammation. The most severe inflammation was seen in 8 of 24 rats (33%) in the second group, in 1 of 24 rats (4%) in the third group, and in 1 of 24 rats (4%) in the control group. None of the rats in group IV showed severe inflammation. No statistically significant difference was detected with respect to the presence of 3+ inflammation between the control vs. dexamethasone-, control vs. budesonide-, and dexamethasone vs. budesonide-receiving groups. Budesonide administration via nebulizer prior to exposure to an allergen may attenuate bronchial inflammation as effectively as systemic dexamethasone in rats.

Blue rubber bleb nevus syndrome.

Blue rubber bleb nevus syndrome is a rare disorder characterized by distinctive cutaneous and gastrointestinal venous malformations that usually cause massive or occult gastrointestinal hemorrhage and iron deficiency anemia secondary to the bleeding episodes. It is even a rare cause of gastrointestinal hemorrhage during childhood. We describe a 6-year-old boy who had multiple venous malformations all over his body. He also suffered from several episodes of melena, chronic anemia, and growth retardation. The endoscopic examination of the gastrointestinal tract revealed multiple bluish-black sessile and polypoid venous malformations in various sizes. It was possible to remove the largest venous malformations causing massive bleeding during colonoscopy.

Her-2/neu gene amplification compared with HER-2/neu protein overexpression on ultrasound guided core-needle biopsy specimens of breast carcinoma.

Genomic amplification and oncoprotein overexpression of Her-2/neu was studied on ultrasound core needle biopsy specimens of the infiltrative ductal carcinomas of the breast. We performed two colour fluorescence in situ hybridization (FISH) for Her-2/neu and chromosome 17 and compared the FISH results with the immunohistochemical overexpression of Her-2/neu protein by 2 antibodies (DAKO HercepTest and the BioGenex monoclonal antibody AM 134-5M). Furthermore, following radical mastectomy with axillary dissection, Her-2/neu status of the patients were compared with the well known histopathological prognostic factors such as histologic grade, tumor stage, lympho/ vascular invasion, surgical margin status and Paget s disease. Amplification was demonstrated 27% of the cases. Her-2/neu protein overexpression was detected in 47% and 80% of the cases with CB11 and HercepTest respectively. We revealed statistically significant association between the tumor, oncoprotein expression and oncogene amplification (p<0.05). The results of our study showed that combination of IHC and FISH methods enhances the evaluation of tumor genetics at both gene and protein level for the analysis of Her-2/neu in breast carcinoma.

Diagnosis of liver cirrhosis in children based on colour Doppler ultrasonography with histopathological correlation.

BACKGROUND: Changes in hepatic architecture in cirrhosis and chronic active hepatitis affect liver vascular haemodynamics. OBJECTIVE: To determine the criteria for the diagnosis of liver cirrhosis using Doppler US. MATERIALS AND METHODS: Twenty-two children with liver disease of unknown histology were prospectively examined and compared with eight normal children. Doppler US of portal vein velocity, arterio-portal velocity ratio, loss of reverse flow component in the hepatic vein and hepatic artery visualisation were examined prior to liver biopsy. Doppler results were compared with histological activity indices. Twelve patients had cirrhosis and ten had chronic active hepatitis. RESULTS: The most sensitive method (83%) for the assessment of cirrhosis was portal vein velocity less than 20 cm/sec. Arterio-portal velocity ratio (greater than 3) and hepatic artery visualisation were less sensitive (75% and 33% respectively) but specificity was 100% for all three methods. When these three methods were evaluated together, sensitivity increased to 91% and accuracy to 96%. Loss of reverse flow component was less specific (77%) but was sensitive (75%). CONCLUSIONS: Portal vein velocity, arterio-portal vein ratio and hepatic artery visualisation together were reliable in diagnosis of cirrhosis in the paediatric age group.

Antioxidant therapy of cobalt and vitamin E in hemosiderosis.

The protective effects of cobalt and vitamin E in iron overloaded rats were investigated. Rats were divided into four groups: group 1 as control, group 2 received only iron; group 3 iron and cobalt, group 4 iron and vitamin E. All injections were given 3 times per week for 3 weeks. Biochemical and histopathologic studies were done on samples of blood and liver, spleen, and intestine. The results showed that the administration of iron with cobalt or vitamin E decreased lipid peroxidation and the levels of hypoxanthine in all tissues (P < .001). Tissue associated myeloperoxidase (MPO) activity was increased in all iron-overloaded animals. However, vitamin E and cobalt decreased MPO activity (P < .001) in all tissues with the exception of the intestines, where cobalt was ineffective. Cobalt therapy increased hemoglobin, hematocrit, and MCV (P < .05). In contrast to SGPT activity, SGOT activity was significantly increased in all groups but more so in group 3 animals. The increased activity of serum SGOT levels might be related to the mechanical injury by cardiac puncture. The most striking histopathologic finding was the presence of granulomas in the livers of 71% of the animals of group 2 and in 66.6% of group 3. Interestingly, granulomas developed in only 33.3% of group 4 animals, whereas no granulomas were found in the livers of control animals (group 1). In this article we report that cobalt is as effective as vitamin E in significantly reducing iron-induced biochemical changes in an iron-overload in vivo model. We further describe for the first time the presence of extensive granuloma formation in iron-overloaded liver tissue and the greater efficiency of vitamin E over cobalt in protecting against granuloma formation in iron overload.

Multiple atresias with extensive intraluminal calcifications in a newborn with cystic fibrosis.

A newborn patient with cystic fibrosis and multiple intestinal atresias demonstrated intraluminal calcifications on a plain abdominal radiograph. Cystic fibrosis may be an aetiological factor for intraluminal calcifications secondary to multiple intestinal atresias.

Correlation of laboratory and clinical findings with the location of Xp21 deletion in Duchenne muscular dystrophy.

Laboratory and clinical features of 28 Duchenne muscular dystrophy patients were evaluated. Positive family history was present in only two cases (7.1%). Dystrophin I-positive fibers were present in 33 percent of the cases with the deletion close to the 5' end of the gene. In the cases with deletion concerning the central part of the gene, all fibers were dystrophin I-negative. In five of the six cases with short stature, the deletion was close to the 5' end of the gene, and short stature was especially seen together with 8th and 13th exon deletion. Statistical analysis concerning the age at which the patient began to have difficulty in standing up and at which he could not walk, did not correlate with the clinical severity and deletion zone, location or extent.

Pyogenic granuloma with multiple dissemination in a burn lesion.

Pyogenic granuloma is a common vascular lesion in childhood. The occurrence of pyogenic granulomas after various kinds of trauma to the skin is quite common; however, multiple lesions secondary to a burn are very rare. For this reason, an 18-month-old girl with multiple pyogenic granulomas following a second-degree burn is reported.

A new case of oculocerebral hypopigmentation syndrome (Cross syndrome) with additional findings.

Cross syndrome is a rare syndrome characterized by ocular and cutaneous hypopigmentation and neurological manifestations. A few reports have been published since 1967. In this report, we present a new case of Cross syndrome with additional findings such as urinary tract abnormality, bilateral inguinal hernia, focal interventricular septal hypertrophy of the heart and vacuolization of myeloid series cells and distinct ultrastructural features of the skin.

Neuronal intestinal and fibromuscular arterial dysplasias associated with intraluminal mucosal web.

A two-year-old boy presenting with the signs and symptoms of partial intestinal obstruction caused by a mucosal web in the ileum is presented. Histopathological evaluation following resection and primary anastomosis revealed neuronal intestinal dysplasia associated with fibromuscular arterial dysplasia limited to the segment proximal to the web and normal findings in the distal part. These findings and a brief review of the literature support the hypothesis that neuronal and fibromuscular dysplasias may develop on the basis of congenital obstructive lesions of the bowel.