Genotype-phenotype study in patients with valosin-containing protein mutations associated with multisystem proteinopathy.

Mutations in valosin-containing protein (VCP), an ATPase involved in protein degradation and autophagy, cause VCP disease, a progressive autosomal dominant adult onset multisystem proteinopathy. The goal of this study is to examine if phenotypic differences in this disorder could be explained by the specific gene mutations. We therefore studied 231 individuals (118 males and 113 females) from 36 families carrying 15 different VCP mutations. We analyzed the correlation between the different mutations and prevalence, age of onset and severity of myopathy, Paget's disease of bone (PDB), and frontotemporal dementia (FTD), and other comorbidities. Myopathy, PDB and FTD was present in 90%, 42% and 30% of the patients, respectively, beginning at an average age of 43, 41, and 56 years, respectively. Approximately 9% of patients with VCP mutations had an amyotrophic lateral sclerosis (ALS) phenotype, 4% had been diagnosed with Parkinson's disease (PD), and 2% had been diagnosed with Alzheimer's disease (AD). Large interfamilial and intrafamilial variation made establishing correlations difficult. We did not find a correlation between the mutation type and the incidence of any of the clinical features associated with VCP disease, except for the absence of PDB with the R159C mutation in our cohort and R159C having a later age of onset of myopathy compared with other molecular subtypes.

A randomized double-blind clinical trial of the effect of non-absorbable oral polymyxin on infants with severe infectious diarrhea.

The present study evaluated the effect of non-absorbable oral polymyxin on the duodenal microflora and clinical outcome of infants with severe infectious diarrhea. Polymyxin was chosen because classic enteropathogenic Escherichia coli was more sensitive to this antibiotic. Twenty-five infants were randomly assigned to a 7-day treatment with oral polymyxin (2.5 mg/kg in 4 daily doses) or placebo. Duodenal and stool cultures were performed before and after the treatment. Five patients were excluded during the study because of introduction of parental antibiotic therapy due to clinical sepsis (N = 3) or rapid clinical improvement (N = 2). In the polymyxin group, small bowel bacterial overgrowth occurred in 61.5% of the cases (8/13) before treatment and in 76.9% (10/13) after treatment. In the placebo group these values were 71.4% (5/7) and 57.1% (4/7), respectively. By the 7th day, clinical cure was observed in 84.6% of the cases (11/13) in the polymyxin group and in 71.4% (5/7) in the placebo group (P = 0.587). Considering all 25 patients included in the study, clinical cure occurred on the 7th day in 12/14 cases (85.7%) in the polymyxin group and 6/11 cases (54.5%) in the placebo group (P = 0.102). Clinical sepsis occurred in 3/11 (27.3%) of the patients in the placebo group and in none (0/14) in the polymyxin group (P = 0.071). Oral polymyxin was not effective in reducing bacterial overgrowth or in improving the clinical outcome of infants hospitalized with severe infectious diarrhea. Taking into account the small sample size, the rate of cure on the 7th day and the rate of clinical sepsis, further studies with greater number of patients are necessary to evaluate these questions.

A randomized double-blind clinical trial of the effect of non-absorbable oral polymyxin on infants with severe infectious diarrhea

The present study evaluated the effect of non-absorbable oral polymyxin on the duodenal microflora and clinical outcome of infants with severe infectious diarrhea. Polymyxin was chosen because classic enteropathogenic Escherichia coli was more sensitive to this antibiotic. Twenty-five infants were randomly assigned to a 7-day treatment with oral polymyxin (2.5 mg/kg in 4 daily doses) or placebo. Duodenal and stool cultures were performed before and after the treatment. Five patients were excluded during the study because of introduction of parental antibiotic therapy due to clinical sepsis (N = 3) or rapid clinical improvement (N = 2). In the polymyxin group, small bowel bacterial overgrowth occurred in 61.5 percent of the cases (8/13) before treatment and in 76.9 percent (10/13) after treatment. In the placebo group these values were 71.4 percent (5/7) and 57.1 percent (4/7), respectively. By the 7th day, clinical cure was observed in 84.6 percent of the cases (11/13) in the polymyxin group and in 71.4 percent (5/7) in the placebo group (P = 0.587). Considering all 25 patients included in the study, clinical cure occurred on the 7th day in 12/14 cases (85.7 percent) in the polymyxin group and 6/11 cases (54.5 percent) in the placebo group (P = 0.102). Clinical sepsis occurred in 3/11 (27.3 percent) of the patients in the placebo group and in none (0/14) in the polymyxin group (P = 0.071). Oral polymyxin was not effective in reducing bacterial overgrowth or in improving the clinical outcome of infants hospitalized with severe infectious diarrhea. Taking into account the small sample size, the rate of cure on the 7th day and the rate of clinical sepsis, further studies with greater number of patients are necessary to evaluate these questions.

Dietary fiber, energy intake and nutritional status during the treatment of children with chronic constipation.

The present prospective study was carried out to determine dietary fiber and energy intake and nutritional status of children during the treatment of chronic constipation. Twenty-five patients aged 2 to 12 years with chronic constipation were submitted to clinical evaluation, assessment of dietary patterns, and anthropometry before and after 45 and 90 days of treatment. The treatment of chronic constipation included rectal disimpaction, ingestion of mineral oil and diet therapy. The standardized diet prescribed consisted of regular food without a fiber supplement and met the nutrient requirements according to the recommended daily allowance. The fiber content was 9.0 to 11.9 g for patients aged less than 6 years and 12.0 to 18.0 g for patients older than 6 years. Sixteen patients completed the 90-day follow-up and all presented clinical improvement. The anthropometric variables did not change, except midarm circumference and triceps skinfold thickness which were significantly increased. Statistically significant increases were also found in percent calorie intake adequacy in terms of recommended daily allowance (55.5 to 76.5% on day 45 and to 68.5% on day 90; P = 0.047). Percent adequacy of minimum recommended daily intake of dietary fiber (age + 5 g) increased during treatment (from 46.8 to 52.8% on day 45 and to 56.3% on day 90; P = 0.009). Food and dietary fiber intake and triceps skinfold thickness increased during follow-up. We conclude that the therapeutic program provided a good clinical outcome.

Dietary fiber, energy intake and nutritional status during the treatment of children with chronic constipation

The present prospective study was carried out to determine dietary fiber and energy intake and nutritional status of children during the treatment of chronic constipation. Twenty-five patients aged 2 to 12 years with chronic constipation were submitted to clinical evaluation, assessment of dietary patterns, and anthropometry before and after 45 and 90 days of treatment. The treatment of chronic constipation included rectal disimpaction, ingestion of mineral oil and diet therapy. The standardized diet prescribed consisted of regular food without a fiber supplement and met the nutrient requirements according to the recommended daily allowance. The fiber content was 9.0 to 11.9 g for patients aged less than 6 years and 12.0 to 18.0 g for patients older than 6 years. Sixteen patients completed the 90-day follow-up and all presented clinical improvement. The anthropometric variables did not change, except midarm circumference and triceps skinfold thickness which were significantly increased. Statistically significant increases were also found in percent calorie intake adequacy in terms of recommended daily allowance (55.5 to 76.5 percent on day 45 and to 68.5 percent on day 90; P = 0.047). Percent adequacy of minimum recommended daily intake of dietary fiber (age + 5 g) increased during treatment (from 46.8 to 52.8 percent on day 45 and to 56.3 percent on day 90; P = 0.009). Food and dietary fiber intake and triceps skinfold thickness increased during follow-up. We conclude that the therapeutic program provided a good clinical outcome

Dissociation of hemopoietic chimerism and allograft tolerance after allogeneic bone marrow transplantation.

Creation of stable hemopoietic chimerism has been considered to be a prerequisite for allograft tolerance after bone marrow transplantation (BMT). In this study, we demonstrated that allogeneic BMT with bone marrow cells (BMC) prepared from either knockout mice deficient in both CD4 and CD8 T cells or CD3E-transgenic mice lacking both T cells and NK cells maintained a high degree of chimerism, but failed to induce tolerance to donor-specific wild-type skin grafts. Lymphocytes from mice reconstituted with T cell-deficient BMC proliferated when they were injected into irradiated donor strain mice, whereas lymphocytes from mice reconstituted with wild-type BMC were unresponsive to donor alloantigens. Donor-specific allograft tolerance was restored when donor-type T cells were adoptively transferred to recipient mice given T cell-deficient BMC. These results show that donor T cell engraftment is required for induction of allograft tolerance, but not for creation of continuous hemopoietic chimerism after allogeneic BMT, and that a high degree of chimerism is not necessarily associated with specific allograft tolerance.

Giant cells in pyoderma gangrenosum.

It has been claimed that pyoderma gangrenosum (PG) lesions may contain granulomatous foci when associated with Crohn's disease. To test this assertion, we obtained clinical histories and archived cutaneous biopsies from 34 PG patients. Thirteen of these patients had inflammatory bowel disease (IBD). Immunostaining with PGM1, a macrophage marker, revealed well-formed giant cells with three or more nuclei in biopsies from 6 of 13 patients with IBD. Five of the 6 biopsies came from patients with Crohn's disease and one from a patient with ulcerative colitis. Two were peristomal. In the 21 patients who had PG without IBD, no giant cells were seen. Thus, PGM1+ histiocytic giant cells within a PG lesion may be indicative of associated IBD (p = 0.006), particularly Crohn's disease.

Cow's milk protein intolerance and chronic constipation in children.

Cow's milk protein (CMP) allergy was investigated in 25 children (age-range 3 months to 11 years) with chronic constipation. A diagnosis of constipation was made on the basis of a history of painful elimination of hard stools for at least 1 month, whether or not associated with a reduced frequency of stools or soiling. The children were evaluated using clinical parameters and the following laboratory tests: total serum immunoglobulin E (IgE); specific IgE (radioallergosorbent test [RAST]) for whole cow's milk, alpha-lactoalbumin, beta-lactoglobulin, and a food group; and skin-prick tests with whole milk, alpha-lactoalbumin, beta-lactoglobulin, and casein. Following the evaluation, the children were submitted to a CMP-free diet for a period of 4 weeks. In seven patients (28%), constipation disappeared during the CMP-free diet and reappeared within 48-72 h following challenge with cow's milk. In two infants a rectal biopsy revealed allergic colitis and they therefore did not undergo the challenge. High serum levels of total IgE were observed in five of the children who showed a clinical improvement (71%), a positive skin-test in two (29%), and detectable specific IgE in two (29%). These results suggest that CMP allergy or intolerance should be considered as a cause of chronic refractory constipation in children, although the underlying mechanism still require further investigation.

Recurrent hepatitis B, hepatitis C, and combined hepatitis B and C in liver allografts: a comparative pathological study.

Although recurrence of viral hepatitis in liver transplants is common, data comparing recurrent hepatitis B (HB), hepatitis C (HC), and co-existing dual hepatitis B and C (HB&C) are sparse. Posttransplantation liver biopsies, along with molecular, serological, immunohistochemical, and clinical data from 27 patients with pretransplantation diagnosis of chronic viral hepatitis, were reviewed. The patients were placed into 4 groups: Group I, with pretransplantation HB (n = 8); group II, with pretransplantation HC (n = 10); group III with pretransplantation HC and anti-HB surface or core antibody (n = 4); and group IV, with pretransplantation HB&C (n = 5). The histopathologic findings and patient outcome were compared in the 4 groups. A high rate of recurrence of viral hepatitis was seen for all 4 groups: Group I = 100%, group II = 90%, Group III = 100%, and group IV = 80%, with the mean (median) recurrence time of 308 (224), 82 (52), 61 (64), and 125 (70) days, respectively. The number of deaths (their median survival times) were: group I = 4 (374 days), group II = 4 (794 days), group III = 1 (1,143 days), and group IV = 5 (448 days). The earliest histological findings of lobular injury was the presence of acidophil bodies and Kupffer cell hyperplasia, the latter being more prominent in recurrent HC cases. Recurrent HB presented in 2 forms: early (before 150 days) with poor survival and with either severe necroinflammatory histology or with features of fibrosing cholestatic hepatitis, and delayed (after 150 days), with mild necro-inflammatory activity and prolonged survival. HC with or without anti-HB antibodies had early recurrence, but the course was slowly progressive. Patients with HB&C had recurrence of both viruses; however, the course was dictated by HB virus.

Activation of nuclear factor kappa B and cytokine imbalance in experimental alcoholic liver disease in the rat.

Inflammatory stimuli and lipid peroxidation activate nuclear factor kappa B (NF-kappaB) and upregulate proinflammatory cytokines and chemokines. The present study evaluated the relationship between pathological liver injury, endotoxemia, lipid peroxidation, and NF-kappaB activation and imbalance between pro- and anti-inflammatory cytokines. Rats (5 per group) were fed ethanol and a diet containing saturated fat, palm oil, corn oil, or fish oil by intragastric infusion. Dextrose isocalorically replaced ethanol in control rats. Pathological analysis was performed and measurements of endotoxin were taken, lipid peroxidation, NF-kappaB, and messenger RNA (mRNA) levels of proinflammatory cytokines (tumor necrosis factor-alpha [TNFalpha], interleukin-1 beta [IL-1beta], interferon-gamma, [IFN-gamma], and IL-12), C-C chemokines (regulated upon activation, normal T cell expressed and secreted [RANTES], monocyte chemotactic protein [MCP]-1, macrophage inflammatory protein [MIP]-1alpha), C-X-C chemokines (cytokine induced neutrophil chemoattractant (CINC), MIP-2, IP-10, and epithelial neutrophil activating protein [ENA]-78), and anti-inflammatory cytokines (IL-10, IL-4, and IL-13). Activation of NF-kappaB and increased expression of proinflammatory cytokines C-C and C-X-C chemokines was seen in the rats exhibiting necroinflammatory injury (fish oil-ethanol [FE] and corn oil-ethanol[CE]). These groups also had the highest levels of endotoxin and lipid peroxidation. Levels of IL-10 and IL-4 mRNA were lower in the group exhibiting inflammatory liver injury. Thus, activation of NF-kappaB occurs in the presence of proinflammatory stimuli and results in increased expression of proinflammatory cytokines and chemokines. The Kupffer cell is probably the major cell type showing activation of NF-kappaB although the contribution of endothelial cells and hepatocytes cannot be excluded. Downregulation of anti-inflammatory cytokines may additionally exacerbate liver injury.

Minimally invasive closed mitral commissurotomy.

Today, technical advances have decreased the risk of cardiopulmonary bypass to the point that closed mitral commissurotomy is performed infrequently in most cardiac centers and is considered hazardous. We describe a modified technique for closed mitral commissurotomy, improved in terms of safety and efficacy, and adapted for situations in which resources are limited. This operation was performed in 12 symptomatic patients with severe mitral stenosis whose valves were judged suitable for closed mitral commissurotomy or balloon valvuloplasty. After modified closed commissurotomy, the mitral valve areas of these patients were increased substantially, from 1.8 to 3.1 cm2. There was no new incidence of mitral regurgitation. We conclude that closed mitral commissurotomy is a safe alternative to open mitral commissurotomy, provided that patient selection criteria are strictly followed.

S100+ cell response to squamous cell carcinoma of the lip: inverse correlation with metastasis.

Previous work has suggested a key role of dendritic cells in antineoplastic immunity. The course of mycosis fungoides and cancers of the lung, colon, thyroid and stomach has been associated with dendritic cell response to the primary tumor. However, this has not been reported for cutaneous or mucosal squamous cell carcinoma (SCC). Thirty-six cases of primary SCC of the lip mucosa or vermillion border, including nine cases with regional metastasis, were studied to investigate the relationship of dendritic cell density with age, tumor grade, mitotic rate, diameter, ulceration, depth of invasion, muscle invasion, tumor-infiltrating lymphocytes (TILs) and metastasis. Dendritic cells were identified using S100 immunohistochemistry, and their peritumor and intratumor density (peri-S100D and intra-S100D) were determined. The mean peri-S100D was 314 +/- 50/mm2. High peri-S100D was associated with lower rate of metastasis (P = 0.03), and no case with peri-S100D > 311/mm2 metastasized. Peri-S100D inversely correlated with depth of invasion (P = 0.04) and ulceration (P = 0.02), and positively associated with TILs (P = 0.02). The mean intra-S100D was 317 +/- 42/mm2. Intra-S100D did not quantitatively correlate with metastasis; however, no metastasis occurred when intra-S100D exceeded 515/mm2. Intra-S100D correlated with brisk TILs (P = 0.04). These results suggest a functional role of dendritic cells in the immune response to SCC. Peri-S100D may be a prognostic indicator.

Protothecosis: an unusual cause of chronic subcutaneous and soft tissue infection.

Protothecosis of subcutaneous and soft tissues is a rare occurrence in humans. We present two patients with chronic subcutaneous protothecosis affecting the elbow and foot respectively. Both patients had been treated with local corticosteroid injections and had recent exposure to water. The diagnosis was made histopathologically in both cases and confirmed by culture in one case. Histopathology showed typical Protothecal sporangia with surrounding mixed inflammatory infiltrate including necrotizing granulomas. Organisms stained positively with periodic acid-schiff, Gomori's methenamine silver, and Gridley fungus stains. In one case, intravenous chemotherapy was required to eliminate the pathogens. Histopathologic identification of the organisms is vital to ensure adequate therapy and avoid chronic smoldering infection.

Microscopic localization of calcifications in and around breast carcinoma: a cautionary note for needle core biopsies.

OBJECTIVE: To detail the microanatomic localization of microcalcifications (Ca++) occurring in association with breast carcinoma and thereby to determine their reliability as a marker of breast carcinoma in small tissue core biopsies. SUMMARY BACKGROUND DATA: Identification of the pathology associated with Ca++ in mammograms has acquired increasing importance in the early detection of breast carcinoma. With recent advances enabling computer-guided stereoscopic needle biopsy of calcified foci, histopathologic diagnosis is rendered on increasingly small tissue samples, raising the risk of misdiagnosis. Knowledge of the microanatomic distribution of Ca++ in relation to diagnostic epithelial elements is essential for assessing their significance in small tissue biopsies. METHODS: All 32 carcinomas with Ca++ within 1 cm of carcinoma diagnosed by open biopsy at the New England Deaconess Hospital from January 1994 to January 1995 were studied. Ca++ were classified as being within ductal or lobular carcinoma in situ, invasive carcinoma, carcinoma-associated stroma, benign stroma >1 mm from carcinoma, or benign ducts or terminal duct-lobular units. If Ca++ were peritumoral, their distance from the tumor was measured. RESULTS: Ca++ were present only in malignant components in 31%, only in benign components in 34%, and in both in 34% of cases. The most common locations of Ca++ were benign peritumoral ducts (62%) and ductal carcinoma in situ (54%). The microanatomic distribution of benign peritumoral Ca++ in relation to the mass is detailed. CONCLUSIONS: In carcinomas with Ca++ in the area of tumor, Ca++ may not be localized to malignant tissue. Caution should be used when interpreting the finding of Ca++ in benign components of small tissue samples of breast masses.

Plantar verrucous carcinoma following transmetatarsal amputation and renal transplantation.

Verrucous carcinoma is a rare, low-grade, well-differentiated squamous cell carcinoma that may occur anywhere on the skin. It is slow growing, enlarges relentlessly, and invades locally. Most cutaneous verrucous carcinomas are found on the plantar surface of the foot, and share many gross and histological characteristics common to the ubiquitous verruca vulgaris. It is not uncommon for verrucous carcinoma of the sole to be mistaken for the more common verruca plantaris. The case of a 53-year-old white male with plantar verrucous carcinoma following cadaveric renal transplantation, right popliteal-tibial bypass, and a right transmetatarsal amputation is presented. Treatment included reamputation followed by reconstruction with a free radial forearm fasciocutaneous flap. Verrucous carcinoma is a slow-growing but relentlessly invading tumor that is easily misdiagnosed. The extent of early resection is often inadequate. We must be aware that certain persistent "warts" may represent a form of cancer that is treated differently from common verrucae or other squamous carcinomas.

Dietary saturated fatty acids down-regulate cyclooxygenase-2 and tumor necrosis factor alfa and reverse fibrosis in alcohol-induced liver disease in the rat.

We investigated the potential of dietary saturated fatty acids to decrease endotoxemia and suppress expression of cyclooxygenase 2 (Cox-2) and tumor necrosis factor alpha (TNF-alpha) in established alcohol-induced liver injury. Six groups (five rats/group) of male Wistar rats were studied. Rats in group 1 were fed a fish oil-ethanol diet for 6 weeks. Rats in groups 2, 3, and 4 were fed fish oil and ethanol for 6 weeks. Ethanol administration was stopped at this time, and the rats were switched to isocaloric diets containing dextrose with fish oil (group 2), palm oil (group 3), or medium-chain triglycerides (group 4) as the source of fat for an additional 2 weeks. Rats in groups 5 and 6 were fed fish oil-ethanol and fish oil-dextrose, respectively, for 8 weeks. Liver samples were analyzed for histopathology, lipid peroxidation, and levels of messenger RNA (mRNA) for Cox-2 and TNF-alpha. Concentrations of endotoxin were determined in plasma. The most severe inflammation and fibrosis were detected in groups 1 and 5, as were the highest levels of endotoxin, lipid peroxidation, and mRNA for Cox-2 and TNF-alpha. After ethanol was discontinued, there was minimal histological improvement in group 2 but near normalization of the histology, including regression of fibrosis, in groups 3 and 4. Histological improvement was associated with decreased levels of endotoxin, lipid peroxidation, and reduced expression of Cox-2 and TNF-alpha. The data indicate that a diet enriched in saturated fatty acids (groups 3 and 4) effectively reverses alcohol-induced liver injury, including fibrosis. The therapeutic effects of saturated fatty acids may be explained, at least in part, by reduced endotoxemia and lipid peroxidation, which in turn result in decreased levels of TNF-alpha and Cox-2.

Alterations in thromboxane synthase and thromboxane A2 receptors in experimental alcoholic liver disease.

We have previously shown that hepatic thromboxane production is increased in experimental alcoholic liver disease. The present study was designed to investigate the cell type in liver responsible for increased thromboxane synthesis and the role of the thromboxane receptor system in the pathogenesis of liver injury. Male Wistar rats were divided into four groups and fed a liquid diet with dextrose or ethanol for 2, 4 and 8 weeks. Medium chain triglycerides or corn oil provided the dietary fatty acids. Kupffer cells, endothelial cells and hepatocytes were isolated from rats fed the different diets for 4 weeks. Liver histopathology, thromboxane synthase mRNA and protein, thromboxane levels and thromboxane receptor mRNA were evaluated in each group. In rats fed corn oil and ethanol, an increase in thromboxane synthase and liver levels of thromboxane metabolites were significantly higher than in the corn oil-dextrose-fed group and were correlated with the presence of pathological changes in the liver. Kupffer cells showed increased expression of thromboxane synthase. In rats fed medium chain triglycerides and ethanol, the levels of thromboxane synthase mRNA and protein were significantly lower than in the corn oil-ethanol-fed groups (P < .01) and liver injury was absent. However, the levels of thromboxane synthase mRNA, protein and thromboxane were significantly higher in the medium chain triglyceride-ethanol-fed rats than in the respective dextrose-fed controls. Among the different cell types, thromboxane A2-receptor mRNA levels were highest in the Kupffer cells in corn oil-ethanol-fed rats. The increase in thromboxane synthase in Kupffer cells together with an increase in thromboxane receptor levels suggests than thromboxanes may contribute to liver injury in ethanol-fed rats.

Cholesterol supplementation prevents necrosis and inflammation but enhances fibrosis in alcoholic liver disease in the rat.

Based on studies that show a role for the low-density lipoprotein (LDL)-receptor in arachidonic acid delivery and eicosanoid synthesis in macrophages, the present study investigated the effect of cholesterol supplementation on pathological changes and thromboxane (TX) synthesis in alcoholic liver injury. Male Wistar rats were intragastrically fed ethanol with either corn oil or fish oil for 1 month. Control rats received isocaloric amounts of dextrose instead of ethanol. An additional group of rats fed either ethanol or dextrose with fish oil or corn oil were supplemented with 1% cholesterol. At the time of killing, all rats had the following evaluated: liver histopathology, lipid peroxidation, liver and plasma thromboxane levels, plasma endotoxin and messenger RNA (mRNA) levels of LDL-receptor, tumor necrosis factor alpha (TNF-alpha), cyclooxygenase (Cox)-1 and -2, and transforming growth factor beta (TGF-beta). Rats fed ethanol with either fish oil or corn oil developed fatty liver, necrosis, inflammation, and central vein collagen deposition. Cholesterol supplementation enhanced the degree of fibrosis but prevented necrosis and inflammation. These alterations in pathological changes by cholesterol were accompanied by absent TNF-alpha and Cox-2 mRNAs, decreased thromboxane levels, decreased lipid peroxidation, and increased TGF-beta mRNA. Cholesterol enrichment of the diet thus decreases proinflammatory components, but enhances fibrosis in ethanol-fed rats.

[Dermatoglyphic patterns in celiac disease]. / Padrões dermatoglíficos na doença celíaca.

In 1990 a project was performed in Israel in which the authors reported a higher frequency of whorls and a lower frequency of ulnar loops in the dermatoglyphic pattern of children with celiac disease than in children belonging to control group. Based on these findings we carried out a similar study with our local population. Thirty six celiac children, their parents and siblings had their fingerprints analysed and compared to a control group matching for age, sex and race, in order to assess the efficiency of this method for the diagnosis of celiac disease. A statistically significant higher frequency of whorls and arches was found in celiac children than in control group (whorls = 40.6%, arches = 11.7%; whorls = 30.3%, arches = 5.0%, respectively) as well as a strong correlation between the dermatoglyphic pattern of the parents and their celiac children. There was also a statistically higher frequency of whorls > = 4 in celiac children (55.6%) than in controls (30.6%). The conclusion is that the dermatoglyphic pattern analysis can be used as a complementary data. Due to its low sensitivity (55.6%) and specificity (69.4%) considering the presence of four or more whorls, it is not useful as a screening or as a method itself, for the diagnosis of celiac disease.