The 97 kDa linear IgA bullous dermatosis antigen is not expressed in a patient with generalized atrophic benign epidermolysis bullosa with a novel homozygous G258X mutation in COL17A1

Most populations and some species of ticks of the genera Boophilus (5 spp.) and Rhipicephalus (ca. 75 spp.) cannot be distinguished phenotypically. Moreover, there is doubt about the validity of species in these genera. I studied the entire second internal transcribed spacer (ITS 2) rRNA of 16 populations of rhipicephaline ticks to address these problems: Boophilus microplus from Australia, Kenya, South Africa and Brazil (4 populations); Boophilus decoloratus from Kenya; Rhipicephalus appendiculatus from Kenya, Zimbabwe and Zambia (7 populations); Rhipicephalus zambesiensis from Zimbabwe (3 populations); and Rhipicephalus evertsi from Kenya. Each of the 16 populations had a unique ITS 2, but most of the nucleotide variation occurred among species and genera. ITS 2 rRNA can be used to distinguish the populations and species of Boophilus and Rhipicephalus studied here. Little support was found for the hypothesis that B. microplus from Australia and South Africa are different species. ITS 2 appears useful for phylogenetic inference in the Rhipicephalinae because in genetic distance, maximum likelihood, and maximum parsimony analyses, most branches leading to species had >95% bootstrap support. Rhipicephalus appendiculatus and R. zambeziensis are closely related, yet their ITS 2 sequences could be distinguished unambiguously. This lends weight to a previous proposal that Rhipicephcalus sanguineus and Rhipicephalus turanicus, and Rhipicephalus pumilio and Rhipicephalus camicasi, respectively, are conspecific, because each of these pairs of species had identical sequences for ca. 250 bp of ITS 2 rRNA.     

E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa

The spectrum of the embolic heart sounds (EHS) detected by precordial Doppler ultrasound has been previously characterized, but only on small volumes of venous air embolism (VAE). We sought to determine whether real-time wavelet analysis is useful in analyzing the signals of EHS and whether the embolic power of the EHS for larger volumes of air is proportionate to the volume of VAE that has been reported for small volumes of VAE. A series of small air boli (0.01, 0.02, 0.05, 0.07, 0.1, 0.15, 0.2, 0.3, 0.4, and 0.8 mL), followed by continuous infusion of larger volumes of air (0.8, 1.6, 2.4, 4.8, and 9.6 mL), was injected into the external jugular vein through a central catheter in seven pentobarbital-anesthetized dogs. We measured the spectrum of the Doppler heart sound (DHS) in a real-time manner by using wavelet analysis at different scales. Wavelet analysis at scale = 1 yielded satisfactory results in distinguishing abnormal EHS from normal DHS with high sensitivity (100%) and good positive predictive value (100%) compared with the conventional method, which requires an anesthesiologist to listen to the audio DHS signals in a real-time manner. There was a linear relationship (y = 1.08x + 7.89, r = 0.75, P < 0.001) between the cumulative embolic power of the EHS and the air volume introduced in the form of either bolus or continuous infusion. The 95% confidence intervals for slope and intercept were 0.89-1.27 and 7.65-8.13, respectively. Our results suggest that wavelet analysis is effective as a real-time monitor and that it is possible to distinguish larger volumes of air emboli based on previous injections of small volumes of air. Implications: The real-time wavelet analysis of the heart sound detected by precordial Doppler ultrasound may be useful in estimating larger volumes of air emboli based on previous injections of small volumes of air in anesthetized dogs.     

Coexistence of psoriasis and an unusual IgG-mediated subepidermal bullous dermatosis: identification of a novel 200-kDa lower lamina lucida target antigen

The CO dehydrogenase enzyme complex from Methanosarcina thermophila contains a corrinoid/iron-sulfur enzyme composed of two subunits (delta and gamma). The cdhD and cdhE genes, which encode the delta and gamma subunits, respectively, were cloned and sequenced. The cdhD gene is upstream of and separated by 3 bp from cdhE. Both genes are preceded by apparent ribosome-binding sites. Northern (RNA) blot and primer extension analyses indicated that cdhD and cdhE are cotranscribed from a promoter located several kilobases upstream of cdhD. The putative CdhD and CdhE sequences are 37% identical to the sequences deduced from the genes encoding the beta and alpha subunits of the corrinoid/iron-sulfur enzyme from Clostridium thermoaceticum. The CdhE sequence had a four-cysteine motif with the potential to bind a 4Fe-4S cluster previously identified in the corrinoid/iron-sulfur enzyme by electron paramagnetic resonance spectroscopy. A T7 RNA polymerase/promoter system was used to produce CdhD and CdhE independently in Escherichia coli. The purified CdhD protein was reconstituted with hydroxocobalamin in the base-on configuration. The purified CdhE protein exhibited an Fe-S center and base-off cobalamin binding in which the benzimidazole base nitrogen atom was no longer a lower axial ligand to the cobalt atom.     

Supratentorial primitive neuroectodermal tumours: a report of four cases with an unusual clinical course in one patient

The aim of the present study was to evaluate the transfer of N-acetyl-p-aminobenzoic acid (AcPABA) across the rat term placenta and the rat small intestine and to compare it with that of its parent drug p-aminobenzoic acid (PABA). Umbilical perfusion of the rat term placenta was used to determine the materno-fetal transfer. AcPABA appeared in the fetal compartment significantly more slowly than PABA (k transfer = 0.023 and 0.064 min(-1), respectively). The rate of equilibration between the maternal and fetal compartments was slightly lower for AcPABA than for the parent drug (k eqilibration = 0.0082 and 0.011 min(-1), respectively). Similarly, AcPABA was shown to be absorbed from the small intestine significantly more slowly than PABA (ka = 0.052 and 0.82 min(-); tmax = 37 and 3.1 min, respectively). Our results showed that both investigated compounds which are structurally related and very similar in their physical-chemical characteristics crossed both the placental and small intestinal barrier with a different kinetics. AcPABA was transported across both barriers significantly more slowly than its parent compound, which might indicate a possible equipment of the placenta with a carrier for PABA, a similar one to that previously found in the rat small intestine.     

Disseminated miliary tuberculosis of the skin in patients with AIDS: report of four cases

During the course of long-term follow-up, we examined the efficacy of interferon (IFN) in the improvement of liver function and prevention of hepatocellular carcinoma (HCC) in hepatitis C virus (HCV) associated cirrhosis patients. Fifty-five cirrhotic patients, in whom HCC nodules in the liver were not detected by ultrasonography (US) or computed tomography (CT), received 3 or 6 million units of human lymphoblastoid IFN daily for two weeks and 3 times a week for 22 weeks. Complete response (CR) was defined as normalization of serum alanine aminotransferase (ALT) together with negative HCV RNA at 6 months after IFN therapy completion. Any other pattern of response was defined as non-response (NR). After IFN therapy the patients were followed up every 1-3 months for at least 1 year (average follow-up period, about 40 months) with serological tests and US or CT. In the 8 CR patients, the serum ALT levels remained normal and HCV RNA remained negative. Platelet count, white blood cell count, serum albumin and zinc turbidity test have recovered to the normal range at final follow-up. Ten of the 47 patients with NR have developed HCC, whereas no patients with CR has developed HCC during follow-up. We conclude that IFN improves the liver function and may prevent the development of HCC even in cirrhotic patients who show CR to IFN therapy.     

Diagnosis and rehabilitation strategies for patients with hysterical hemiparesis: a report of four cases

BACKGROUND: Sulphidoleukotrienes (slt) are important mediators in allergic diseases that are synthesized after allergen-specific stimulation. OBJECTIVES: The aim of this study is to determine in vitro slt production after allergen-specific (Dermatophagoides pteronyssinus) stimulus of peripheral blood leucocytes and to observe whether histamine release in whole blood with the same allergen correlates with slt production. We also wanted to evaluate whether a correlation exists between the release of slt and histamine and other diagnostic procedures as well as various clinical situations. METHODS: We studied 62 patients sensitive to Dermatophagoides pteronyssinus (Der p), 30 atopic controls and 12 healthy donors. We determined slt production using the CAST-ELISA technique and histamine release using two concentrations of Der p extract (20 and 2 ng/mL). We also carried out quantification of specific and total IgE levels, skin tests and pulmonary function test on each patient. RESULTS: We observed a significantly increased slt release after in vitro stimulation with Der p. There was a significant difference in the slt release between controls and sensitive patients (P < 0.001) and between atopic controls and sensitive patients (P < 0.001). The data are similar to those obtained with histamine release. We noted a positive correlation (P < 0.001) between slt and histamine release (r = 0.71, at 2 ng/mL and r = 0.83 at 20 ng/mL). We also found a positive (P<0.001), although weak (r=0.4 with at 2ng/mL, and r = 0.34 with P = 0.003 at 20 ng/mL) correlation between slt release and specific IgE levels as well as between slt release and skin-test reactivity (r = 0.49 at 2 ng/mL and r = 0.45 at 20 ng/mL; P < 0.001). No significant correlation between slt release and asthma severity was observed, although a trend toward higher slt production in severe and moderate asthma was detected. We found a significant (P<0.001) but weak (r=-0.3) negative correlation between age and slt release. With respect to sex-related differences, we found significant differences (P < 0.05) in slt release between the sexes with a higher slt release in men than in women. CONCLUSION: We conclude that CAST-ELISA for quantification of slt production is a useful in vitro method for diagnosing sensitization to Der p. There also exists a close correlation between slt release and other parameters of allergic sensitization in vitro as well as in vivo.     

Hereditary Gottron''s acrogeria with recessive transmission: a report of four cases in one family

The tegumental topography of the plerocercoid of Gymnorhynchus gigas is described for the first time. The surface features were examined by scanning electron microscopy. Eight different types of microthrix pattern were found. Differences in the shape and density of microtriches depend on their location. A unique morphological feature is reported herein, namely, filamentous microtriches that were arranged in clusters with a dome-shaped pattern when the bothridial surface was relaxed but sunk into a crater when the bothridial surface was contracted. In contrast to other trypanorhynchan cestodes, palmate microtriches are not found on the tegument of this plerocercoid. The microtriches on the caudal extension gradually increased in length with growing distance from the blastocyst, which showed short knob-like structures. These structures developed into elongated filiform microtriches on the posterior region of the caudal extension.     

Autoimmune enteropathy with severe atrophic gastritis and colitis in an adult: proposal of a generalized autoimmune disorder of the alimentary tract

BACKGROUND: We describe the case of an adult with autoimmune enteropathy consistent with both severe atrophic gastritis accompanying antral stenosis and colitis. METHODS AND RESULTS: The patient, positive for anti-intrinsic factor antibody, had intractable diarrhea and protein-losing enteropathy. In the ileum inflammatory cells were observed infiltrating the lamina propria along with villus atrophy, and similar inflammation was also found in the lamina propria of the colon and stomach, with complete loss of specialized glands. The myenteric ganglion cells of the hypertrophied muscularis propria in the stenosed antrum showed degeneration with surrounding T-lymphocyte infiltration. There were more CD8+ than CD4 lymphocytes in the lamina propria of the stomach and colon. CONCLUSIONS: The CD8+ (suppressor-cytotoxic) T lymphocytes may have played an important role in the production of lesions in the stomach, small intestine, and colon, so we propose this case as an example of a generalized autoimmune disorder of the alimentary tract.     

Pseudoxanthoma elasticum-like papillary dermal elastolysis: report of four Japanese cases and an immunohistochemical study of elastin and fibrillin-1

Fourier transform infrared and Raman (FT-IR and FT-Raman) microspectroscopy were used to study materials found in human tissue. Individual cases involving cholesterol, calcium stearate, and a polystyrenesulfonate ion exchange resin demonstrate the utility of the spectroscopic data. Characteristic spectral bands for these materials were compared with those of authentic chemical species to confirm their identities. The role of vibrational spectroscopy in pathologic diagnoses is discussed.     

Partial trisomy 13 in an infant with a mild phenotype: application of fluorescence in situ hybridization in cytogenetic syndromes

Overexpression of cyclin D1 has been found in a variety of malignancies and is suggested to be related to tumor progression. We immunohistochemically investigated the overexpression of cyclin D1 protein in 92 laryngeal carcinomas. Twenty-eight (30.4%) of the carcinoma specimens showed overexpression of cyclin D1. This overexpression was not related to the tumor stage, lymph node metastasis, or clinical outcome. However, the overexpression of cyclin D1 in patients with local recurrence was significantly higher than in patients with no recurrence. Cyclin D1 immunohistochemical staining is considered to be a useful marker for predicting tumor recurrence.     

Florid cystic endosalpingiosis with tumor-like manifestations: a report of four cases including the first reported cases of transmural endosalpingiosis of the uterus

Four cases of endosalpingiosis presenting as masses that resembled neoplasms are described in women 20, 41, 43, and 74 years of age. Each case was referred in consultation because of difficulties in pathologic diagnosis. In two patients, multiple cysts that involved the serosal surfaces of the uterus and adnexa in one case, and the colon, rectosigmoid, pelvic sidewalls, and the cul-de-sac in the other, were excised. In the other two cases, hysterectomy was performed for an enlarged cystic cervix in one case and presumed uterine leiomyomas in the other. In both of these cases, the uterine cervix and lower part of the uterine corpus were extensively involved by multiple cysts on gross examination, and in one of them, a frozen section of the cervical lesion was initially interpreted as "suspicious for invasive minimal deviation adenocarcinoma." On microscopic examination, benign endosalpingiotic glands and cysts were found in all four cases, with striking transmural involvement of the uterine cervix and lower uterine segment and contiguous corpus in the two cases with uterine involvement. The latter two cases are the first examples, to our knowledge, of endosalpingiosis involving the wall of the uterus; the differential diagnosis in these cases includes minimal deviation adenocarcinoma and florid tubal metaplasia with cystification. The four cases in this report, and rare previously reported cases, indicate that although usually a microscopic finding, endosalpingiosis can rarely present as a clinically or grossly evident mass that can be confused with a neoplasm.     

Marked increase in serum CA 19-9 level in patients with alcoholic cirrhosis: report of four cases

We report four cases of marked increase in serum carbohydrate antigen (CA 19-9) levels in patients with severe alcoholic cirrhosis without any evidence of gastric or pancreatic carcinoma. Brief reports were obtained from two hepatology units of four cirrhotic patients, three of them with alcoholic hepatitis. In the four cases, improvement of liver function and disappearance of jaundice were associated with a decrease to normal serum CA 19-9 levels. These observations show that a marked increase in serum CA 19-9 level in patients with severe hepatic dysfunction is not diagnostic of pancreatic or gastric carcinoma.     

Immediate TRAM flap breast reconstruction in an obese patient with relapsing benign phyllodes tumor: report of a case

The authors present a case of relapsing benign phyllodes cystosarcoma of the breast in an obese female treated with a simple mastectomy and an immediate reconstruction using a bipedicled transverse rectus abdominis musculocutaneous (TRAM) flap. After a brief review of treatment options for phyllodes tumors, they discuss the advantages of TRAM flap breast reconstruction, suggesting that it may also be applied in obese patients.     

Neuroblastoma in an adult with a high serum level of carbohydrate antigen, CA125: report of a case

OBJECTIVE: The clinical characteristics and outcomes of endometrial cancer patients 45 years of age and younger were compared with those of patients older than 45 years of age. METHODS: We performed a cross-sectional study of 301 consecutive endometrial cancer patients referred to our center from 1989 to 1994. Of the 289 patients eligible for study, 40 were 45 years of age or younger (group A) and 249 were older than 45 years of age (group B). RESULTS: The majority of patients in both groups presented with stage I disease. Of the women with stage I disease, patients in group A were more likely than those in group B to have low-grade disease localized to the endometrium (P < .001; relative prevalence 3.39; confidence interval [CI] 1.88, 6.12). However, the distribution of stages I to IV overall was the same for the two groups (P = .269). Although univariate analysis revealed that 11% of the patients in group A and 2% in group B had synchronous ovarian malignancies (P = .007; relative prevalence 5.42; CI 1.39, 21.14), multivariate logistic regression found that nulliparity, not age, was an independent risk factor for synchronous ovarian malignancy (P = .017; relative prevalence 6.15; CI 1.52, 25.61). There were no statistically significant differences by age in the prevalence of high-risk endometrial histology (serous and clear cell carcinoma) or in survival. CONCLUSION: The overall distribution of tumor stage and survival were the same for the younger and older women; this finding contradicts previous reports that suggest that young women with endometrial cancer are at lower risk. Additionally, nulliparity, which occurs with a higher prevalence in younger women who develop endometrial cancer, is associated statistically with the development of synchronous ovarian malignancies.     

Reactivation of hepatitis B after transplantation in patients with pre-existing anti-hepatitis B surface antigen antibodies: report on three cases and review of the literature

The authors report the case of a 34 year old woman, admitted to hospital because of myocardial infarction two months after delivery of her fifth child. The infarction was caused by spontaneous dissection of the left main coronary and left anterior descending arteries. Twenty-three months later, the patient was well with medical therapy. This case is an example of spontaneous post-partum coronary dissection which is the commonest cause of infarction occurring in that period. The physiopathology of this complication is not fully understood. The prognosis is poor, lethal in two thirds of cases. However, it must be emphasised that coronary dissection may regress spontaneously. Patients were previously referred systematically for surgery, but now it is usually reserved for cases with persistent myocardial ischaemia despite medical therapy. Angioplasty may be preferred despite the risks and may be successful in some cases.