Biochemical Markers of Bone Turnover in Camurati–Engelmann Disease: A Report on Four Cases in One Family

Moderate increases in ``classical' biochemical markers of bone turnover have been described only in some patients with Camurati–Engelmann disease. However, the determination of the following ``new' markers has not been previously performed: serum osteocalcin (BGP), bone alkaline phosphatase (BAP), carboxyterminal propeptide of type I procollagen (PICP), aminoterminal propeptide of type I procollagen (PINP), tartrate-resistant acid phosphatase (TRAP), telopeptide carboxyterminal of type I collagen (ICTP), urinary pyridinoline (PYR), crosslinked N-telopeptides of type I collagen (NTX), and Crosslaps (CL). Such a determination may improve the evaluation of the disease activity. To evaluate the usefulness of biochemical markers of bone turnover reflecting Camurati–Engelmann disease activity we measured the levels of all these markers in four affected patients. The results were compared with bone scintigraphic indices of disease activity. Except for PICP and TRAP, bone formation and resorption markers were abnormal in all patients and were related to bone scan indices of disease activity. Among the markers of bone formation PINP, BAP, and BGP showed the highest values, whereas NTX and CL were the most sensitive markers of bone resorption. These results suggest that the determination of NTX or CL, and PINP or either BAP and BGP, associated with bone scan evaluation, provides the best assessment of Camurati–Engelmann disease activity. Received: 14 June 1996 / Accepted: 31 December 1996     

Urinary D-glucaric acid and serum hepatic enzyme levels in chronic alcoholics

Urinary D-glucaric acid (DGA) and the activities of gamma-glutamyl transferase (GGT) and other hepatic enzymes in serum were determined in 33 noncirrhotic male alcoholics who had continued to consume alcohol until at least 24 h prior to the taking of samples. DGA excretion was significantly greater in them than in a group of 30 healthy controls (p less than 0.001), exceeding the upper reference level in 38% of the alcoholic cases (as compared with 88% for GGT). In the alcoholic patients, there was highly significant correlation between urinary DGA and serum GGT (r = 0.613, p less than 0.001), suggesting that in both cases the increased levels are due to enzyme induction. None of the biochemical variables studied were significantly correlated with estimated daily alcohol consumption. Urinary DGA levels fell off rapidly with abstinence, and in 31 alcoholic patients who had consumed no alcohol for 5 days, there was no statistically significant correlation between DGA excretion and serum GGT (r = 0.158, p congruent to 0.4).     

Temporal sequence of gene expression leading caudal prosencephalon to develop a midbrain/hindbrain phenotype.

Transplantation of prosomeres 1-2 into the cerebellar plate were used, by using chick/quail chimeras, to analyse the temporal sequence of the genetic cascade leading the graft to develop a midbrain/hindbrain phenotype. Our results show that (1) at Hamburger and Hamilton (HH) stage 13, Pax2 and En2 are already induced within the graft, before all other genes of the cascade, whereas misexpression of Fgf8 is also observed within the contiguous host cerebellar plate; (2) within the graft, Otx2 repression and Gbx2 induction (see Hidalgo-Sánchez et al. [1999] Development 126:3191-3203) are secondary events that affect, from stages HH14-15, the areas in contact with the host Gbx2/Fgf8-expressing cerebellar plate; (3) at these stages, the repressed Otx2 territory extends beyond the areas induced to express Gbx2, with the two territories not abutting before HH17-18; (4) Fgf8 expression becomes progressively induced within the Otx2-repressed/Gbx2-induced territory, starting at HH15-16. Our results support the hypothesis that the host-Gbx2/graft-Otx2 interface could trigger the genetic cascade induced within the graft and that the Gbx2-induced domain could play a key role during the establishment of the induced intragraft midbrain/hindbrain boundary.     

Pleural effusion in patients infected with the human immunodeficiency virus

In order to analyze the etiology, cytological and biochemical characteristics, and outcome of pleural disease in patients infected with HIV, the medical records of 86 HIV-positive patients with pleural effusion were reviewed. Controls were 106 HIV-negative patients with parapneumonic or tuberculous effusion. Most HIV-positive patients were intravenous drug abusers (95.3%). Pleural effusions in HIV-positive patients were caused by infections in 76 (89.4%) cases. Parapneumonic effusion was diagnosed in 59 patients and tuberculous pleuritis in 15 patients.Staphylococcus aureus was the most frequently isolated bacteria. Parameters for differentiating complicated cases of parapneumonic exudate from uncomplicated cases, such as pleural fluid pH<7.20 (sensitivity 80% vs. 84.3%), pleural fluid glucose<35 mg/dl (sensitivity 45% vs. 56.25%) pleural fluid LDH > 1600 Ul/l (sensitivity 85% vs. 62.50%), showed similar sensitivity in HIV-positive and HIV-negative patients. Monocytes in pleural fluid were significantly decreased in tuberculous pleuritis in HIV-positive patients (506±425 vs. 1014±1196 monocytes/ml, p<0.05). No significant differences were detected in the outcome of HIV-positive and HIV-negative patients with pleural disease. It can be concluded that the pleural effusion was of predominantly infectious etiology in HIV-positive patients from populations with a high prevalence of intravenous drug abuse. Neither the biochemical parameters in pleural fluid nor the outcome differed significantly between HIV-positive and HIV-negative patients.     

Maternal syphilis and congenital syphilis in Latin America: big problem, simple solution]

From the data submitted to the Pan American Health Organization (PAHO) by nationwide programs against sexually transmitted diseases (STD), HIV infection, and AIDS (2002), one can estimate the overall prevalence of syphilis among pregnant women to be 3.1% and to range from 1.00% in Peru to 6.21% in Paraguay. According to these data, the incidence of congenital syphilis ranges from 1.4 per 1000 live births in El Salvador to 12.0 per 1000 live births in Honduras. Among men who engage in sex with other men, who often classify themselves as heterosexual, as well as in female sex workers, the prevalence of syphilis ranged from 5% to 15%. Factors that determine the persistence of congenital syphilis as public health problem include a lack of awareness of the seriousness of the problem among politicians, health officials, and health care providers, difficult access to prenatal care, and screening services, a low demand for the test among users, and the stigma and discrimination that surround sexually transmitted diseases (STD). This paper seeks to focus the attention of health professionals on maternal and congenital syphilis so they will undertake actions, using an interprogrammatic approach, to eliminate congenital syphilis from Latin America and the Caribbean. Eliminating congenital syphilis will only become possible if interventions targeting vulnerable groups are also implemented. PAHO's role in eliminating congenital syphilis includes determining the baseline situation in the Region as a whole and in each country, developing communication and procurement strategies, supporting nationwide programs, promoting operational research, and facilitating interprogrammatic coordination.     

Comparison of the diagnostic criteria for diabetes mellitus, WHO-1985, ADA-1997 and WHO-1999 in the adult population of Asturias (Spain).

AIMS: To estimate the prevalence of diabetes mellitus with three diagnostic criteria (WHO-1985 and 1999 and ADA-1997), evaluate their concordance and analyse the sensitivity and specificity of the different screening strategies for diabetes. METHODS: A cross-sectional population study with two-step sampling. One thousand and 34 people were selected randomly. A 75-g oral glucose tolerance test (OGTT) was performed and venous blood samples were obtained fasting and at 2 h. RESULTS: The prevalence of known Type 2 diabetes mellitus (DM-2) is 4%[95% confidence interval (CI) 2.8, 5.1]. By WHO-1985 criteria the prevalence of unknown DM-2 is 5.9% (4.5, 7.4); by ADA-1997 criteria 3.5% (2.5, 4.6) and by WHO-1999 criteria 7.3% (5.8, 8.8). Diagnostic overlap and statistical concordance (coefficient K) are WHO-1985/ADA-1997 29.3%, K=0.42; WHO-1985/WHO-1999 80%, K=0.88; ADA-1997/WHO-1999 48%, K=0.63. If only fasting glucose was used (following ADA-1997), 36.3% of those with diabetes (2-h glucose > or =11.1 mmol/l) would be diagnosed. If OGTT was performed (i) in those with a fasting glucose between 6.1 mmol/l and 6.9 mmol/l (9.8% of the population) we would diagnose 66.6%, and (ii) in all those between 5.7 mmol/l and 6.9 mmol/l (18.9% of the population) 81.8% would be diagnosed. CONCLUSIONS: The ADA criteria decrease the prevalence of DM in the adult population of Asturias by 2.4% and concordance with the classical criteria (WHO-1985) was only 29.3%. Using fasting glucose only (ADA-1997) diagnoses 36.3% of those with diabetes. The recent recommendations of the WHO-1999 increases this to 66.6%. To improve the diagnostic strategy for diabetes and detect up to 81.8% of patients, we propose the use of OGTT for all those with a fasting glucose between 5.7 mmol/l and 6.9 mmol/l.     

Subhepatic collections complicating laparoscopic cholecystectomy: Percutaneous management

Ten patients with subhepatic fluid collections complicating laparoscopic Cholecystectomy were successfully treated by interventional radiological procedures. The series included five abscesses, three hematomas, one biloma, and one serous collection. Abdominal pain or fever developed from 3 to 21 days after the laparoscopic intervention. All patients were asymptomatic 72 h after percutaneous drainage and there were no complications related to the procedure. Subhepatic fluid accumulations are common findings after laparoscopic cholecystectomies and have been considered an unreliable indicator of infection or other postoperative complications. However, the significance of these collections should not be underestimated in symptomatic patients. In such cases we propose diagnostic aspiration and drainage, when necessary, to safely and promptly establish the precise diagnosis and treatment. More serious complications can be avoided by early percutaneous intervention.     

Incontinentia pigmenti: MR demonstration of brain changes.

PURPOSETo describe the MR findings in eight girls and women with incontinentia pigmenti, from two families. Four had skin lesions and neurologic disease, and four had only skin lesions.METHODSEight patients had physical examination, family history, electroencephalogram and MR examination of the brain. MR was repeated in the two cases with more severe changes several years after the first study.RESULTSMR revealed brain changes only in the four patients who had neurologic disease associated with the cutaneous lesions of incontinentia pigmenti. Abnormalities were located in the cerebral hemisphere contralateral to the most affected side of the body. In two cases, the MR changes were subjacent to the scalp areas where the most severe cutaneous lesions were located in the neonatal period. Hypoplasia of the corpus callosum, probably secondary to atrophy of one or both cerebral hemispheres, and abnormal signal and atrophy of the lateral regions of one of the cerebellar hemispheres also were found in all four cases. Although the changes were seen in both the T1- and T2-weighted images, they were most evident in the latter. The four patients in the fourth stage who had only cutaneous lesions without neurologic problems did not reveal any MR abnormalities.CONCLUSIONSThis study demonstrates MR signal changes and focal atrophy of the cerebrum, cerebellum, and corpus callosum in patients with incontinentia pigmenti and neurologic disorders. The MR images appear normal in patients with incontinentia pigmenti who have no neurologic abnormalities.     

Carcinoma of the papilla of vater: Are endoscopic appearance and endoscopic biopsy discordant?

Carcinoma of the papilla of Vater is classified as periampullary cancer representing 5% of all gastrointestinal tract malignancies. Early and accurate diagnosis is important for those patients with a tumor of the papilla, as the prognosis is more favorable than in other periampullary neoplasms. Endoscopically obtained biopsies from suspicious papillae can detect an early tumor, although even for skilled pathologists it is often difficult to differentiate carcinomas from noninvasive lesions on the basis of forceps biopsies. The purpose of this study was to assess the preoperative diagnostic accuracy of duodenoscopy appearance and biopsy in all cases with suspicion of tumor. Thirty patients with suspicion of carcinoma of the papilla of Vater and with final diagnosis established by pancreatoduodenectomy were included in this retrospective study. In each case, a comparison was made between endoscopic biopsy and duodenoscopic appearance. Duodenoscopic appearance sensitivity and accuracy for malignancy were 86% and 83%, respectively, whereas endoscopic biopsy sensitivity and accuracy were 65% and 67%, respectively. Although preoperative diagnosis of carcinoma of the papilla of Vater is useful for making therapeutic decisions, the diagnostic value of the endoscopic appearance was superior to endoscopic biopsy in this series. Presented at the 2003 American Hepato-Pancreato-Biliary Association Congress, Miami, Florida, February 27-March 3, 2003. Supported by FADA-CAPES/PROP 200J (M.L.D.).