Proteus Syndrome, a rare case with an unusual presentation: Case report.

INTRODUCTION: Proteus Syndrome is a very rare syndrome, where only 200 cases has been reported so far. PRESENTATION OF CASE: We were presented with a 45 year male with features of chronic Intestinal Obstruction. On Examination he had a giant right middle finger (Fig. 1), giant left forearm, with amputated left hand, and massive abdominal distension with tenderness in upper abdomen. DISCUSSION: Proteus Syndrome (PS) is a very rare syndrome, diagnosis of which is based on Biescker's criteria, either one finding from Criteria A, or two from B, or three from C. Confirmation of the disease is by finding genetic variation in the AKT1 gene. In addition to the presence to some of the criteria in our patient, he also had numerous intestinal lipomatosis, involving almost most of his small intestine. This in addition to high riding caecum and a narrow long mesentery which contributed to the development of small Bowel volvulus. CONCLUSION: PS should be suspected whenever we encounter patients with macrodactyly and this should alert us to the possibility of other congenital anomalies.

Atypical hemolytic uremic syndrome: A monocentric adult Tunisian study and review of literature.

Atypical hemolytic uremic syndrome (aHUS) is characterized by microvascular thrombosis resulting in thrombocytopenia, hemolytic anemia, and multiorgan dysfunction. It is associated with genetic or acquired disorders of regulatory components of the complement system. For our study, we collected data from 16 patients diagnosed with aHUS between January 2010 and January 2014. The mean age was 33.6 years. The female-to-male ratio was 3. The median follow-up duration was 27 ± 3.5 months. The most common clinical presentation was hypertension. Renal involvement was noted in all cases. Ten patients had extrarenal manifestations. Semi-quantitative dysfunction of the alternative pathway of complement was found in all cases. A genetic study was not available for our patients. During the acute stage, all patients received plasma therapy, and among them, seven required dialysis and five were still on dialysis at the time of discharge. One patient underwent renal transplantation. None of our patients received eculizumab perfusion. The renal survival was inversely correlated to young age (<30 years) (P = 0.001), presence of anti-factor H antibodies (P = 0.003) and serum creatinine at diagnosis >5 mg/dL (P = 0.02). Mortality rate was significantly correlated to young age (<30 years old) (P = 0.01). Collecting multicentric data on adult patients with aHUS will enable better characterization of the spectrum of adult aHUS in our country and the evaluation of current treatments and different outcomes.

Intracaval Migration of Ureteral Stent.

Ureteral stents have proven to be an invaluable tool for endourologists. Morbidity is minimal, but complications do exist. Up to 3 months complications are not frequent, but longer indwelling times are associated with increasing frequency of incrustation, infections, secondary stone formation, obstruction of the stented tract and migration. We report a rare case of a 33 year old pregnant patient with migration of an ureteral endoprosthesis. The patient received a right ureteral stent at 12 weeks for acute obstructive pyelonephritis. When her urologist tried to remove the ureteral stent post delivery, the stent was not found in the bladder. Ureteroscopy was performed but no ureteral stent was found. The patient showed a moderate improvement of the pyelonephritis, but complained about insidious palpitations. A CT scan was performed and showed the presence of the ureteral stent extending from the inferior vena cava up to the right atrium. Endovascular retrieval was performed through a puncture of the common femoral vein, using a curved guide that was introduced through the vena cava into the right atrium. Under fluoroscopic control, it was twisted around the stent and pulled out. The outcome was favorable, and no other complications were noted.

Bile acid malabsorption assessed by 7 alpha-hydroxy-4-cholesten-3-one in pediatric inflammatory bowel disease: correlation to clinical and laboratory findings.

BACKGROUND AND AIMS: Measurement of 7 alpha-hydroxy-4-cholesten-3-one (C4) in serum is a semiquantitative test for bile acid malabsorption (BAM). We have previously established pediatric normal values for C4 with an upper limit of normal of 66.5 ng/mL, independent of age and sex. Here we performed the C4 test in 58 pediatric patients with Crohn's disease (CD) and ulcerative colitis (UC). METHODS: C4 was measured using high performance liquid chromatography (HPLC) in fasting serum samples of 44 patients with CD (range 7-19 years) and 14 with UC (4-18 years). Disease activity was assessed by the pediatric CD and UC activity indices (PCDAI and PUCAI, respectively) plus serum (CRP, ESR) and fecal inflammatory markers (calprotectin). RESULTS: C4 concentrations were increased in 10 CD (23%) (range: 70.8-269.3 ng/mL) but only one UC patient (72.9 ng/mL). CD patients with diarrhea (n=12) had higher C4-values compared to those without (76.9 vs. 30.4 ng/mL; p=0.0043). Ileal resection in CD patients (n=10) was associated with increased C4 concentrations (81.2 vs. 24.3 ng/mL, p=0.0004). No correlation was found between C4 values and inflammatory markers. Six of 7 CD patients with persistent diarrhea but quiescent disease (PCDAI ≤12.5) had C4 values indicating BAM. CONCLUSION: Elevated C4 concentrations indicating BAM are common in children with CD. They are associated with ileal resection and non-bloody diarrhea in the absence of active disease or elevated inflammatory markers. The C4-test identifies a subgroup of CD patients with persistent diarrhea in spite of clinical remission which may benefit from bile acid binding therapy.

[Central diabetes insipidus: diagnostic difficulties]. / Diabète insipide central: difficultés diagnostiques.

UNLABELLED: Central diabetes insipidus is rare in children. Characteristic features include polyuria and polydipsia due to arginine vasopressin deficiency. The differential diagnosis of polyuric states may be difficult. Etiologic diagnosis of central diabetes insipidus may be an equally difficult task. OBJECTIVE: To specify the difficulties encountered in the diagnosis of central diabetes insipidus and to point out features of the etiologic work-up and of long-term follow-up of children with idiopathic central diabetes insipidus. METHODS: A retrospective study of 12 children admitted with a polyuria/polydipsia syndrome to the pediatric - consultation and emergency unit of the children's hospital of Tunis between 1988 and 2005. Children with acquired nephrogenic central diabetes insipidus were excluded. Fourteen-hour fluid restriction test and/or desmopressin test were used without plasma vasopressin measurement. RESULTS: Eight patients were classified as having central diabetes insipidus, which was severe in seven children and partial in one girl. One patient was classified as having primary polydipsia. The diagnosis remains unclear in three patients. The etiological work-up in eight patients with central diabetes insipidus enabled the identification of Langerhan's-cell histiocytosis in two patients and neurosurgical trauma in one. The cause was considered idiopathic in five patients. The median follow-up of the five patients with idiopathic central diabetes insipidus was five years two months plus or minus six years seven months (range five months, 14.5 years). During this follow-up, neither brain magnetic resonance imaging scans findings nor anterior pituitary function have changed. CONCLUSION: Fluid restriction and desmopressin tests did not enable an accurate distinction between partial diabetes insipidus and primary polydipsia. Regular surveillance is warranted in patients with idiopathic central diabetes insipidus to identify potential etiologies.

[Synthesis and insecticidal activity of some benzimidazolic and benzothiazolic derivatives]. / Synthèse et activité insecticide de quelques dérivés benzimidazoliques et benzothiazoliques.

The benzimidazolic and benzothiazolic derivatives with a (CH(2))n radical in 2 position of the heterocycle had been synthesized and then tested for their insecticidal activity on Culex pipiens larvae. The benzothiazolic derivatives were found to be the most active. The study has also showed that this activity was related to the nature of the substitute in 2 position of the heterocycle. This activity increased when (CH(2))n chain increased until n=6; above this value, the activity decreased.

Heat capacity studies of formation of micelle-like structure in aqueous solutions of some alkane polyols.

Some polyols show micellar behavior in aqueous solutions at concentrations greater than the critical micellar concentration (cmc). The 1,2-alkanediols (C(n)H(2n+2)O2 with n=5,6,7), the 1,2,3-alkanetriols (C(n)H(2n+2)O3 with n=7,8,9), and the geminated alkanetriols (C(n)H(2n+2)O3 with n=8 and 9) are investigated by microcalorimetric techniques. Only the 1,2-hexanediol (n=6), the 1,2,3-octanetriol (n=8), and the 2,2-dihydroxymethyl 1-heptanol (n=9) possess, in aqueous solutions, an organized structure above the critical micellar concentration (cmc). The 1,2-pentanediol (n=5) and the 1,2,3-heptanetriol (n=7) would form weak associations, whereas the 2,2-dihydroxymethyl 1-hexanol (n=8) does not form any associations even at large concentration. The 1,2-heptanediol (n=7), being only very slightly soluble even at a temperature of 30 degrees C, could not be studied. The 1,2,3-nonanetriol (n=9) is not soluble at temperatures between 20 and 35 degrees C. The critical micellar concentrations are determined by specific heat capacity methods. The passage from the dispersed environment to the organized environment gives a constant quantity of specific heat capacities (about 50 JK(-1)mol(-1)) only for the 1,2-hexanediol (n=6), the 1,2,3-octanetriol (n=8) and the 2,2-dihydroxymethyl 1-heptanol (n=9), which form true micelles. Structural effects of these systems are discussed.

[Prevalence and follow-up of psychiatric diseases in internal medicine departments]. / Prävalenz und Verlauf seelischer Erkrankungen an internen Krankenhausabteilungen.

While several surveys have shown that psychiatric disorders are common in non-psychiatric hospital departments, information on the course of psychiatric morbidity during the hospital stay is still lacking. Therefore, in two medical hospital departments in Austria we investigated the course of illness in 265 patients staying in the hospital for more than four weeks. Patients were interviewed using the Clinical Interview Schedule. At admission, prevalence of all psychiatric disorders was 46.0%. During the four weeks after admission, mentally well were discharged from hospital more frequently than mentally ill. Among those staying in the hospital after four weeks, prevalence was 51.4%. In the intervening period, the incidence (9.5%) was slightly lower than the rate of remission (12.4%). At both assessments, organic mental illness was the most frequent diagnosis followed by neurotic and adjustment disorders. Thus, in spite of the slightly higher rate of remission than incidence, the overall psychiatric prevalence increased during the first four weeks after admission because of the earlier discharges of the mentally well. In conclusion, our results show that point-prevalence surveys not regarding disease course give an incomplete impression of psychiatric morbidity in non-psychiatric hospital departments.

Prevalence and course of psychiatric disorders among nursing home admissions.

Several studies have shown that psychiatric disorders are common in nursing homes, but information on the course of psychiatric morbidity shortly after admission is still lacking. Therefore, we interviewed 262 residents of Austrian nursing homes within 2 weeks following admission, and a second time after 6 months. Using the Clinical Interview Schedule and its case criteria, prevalence was 76.3% at admission, and 69.9% 6 months later. In the intervening period, the mortality rate was markedly higher among psychiatric cases, and the incidence of new psychiatric cases (5.9%) was slightly lower than the rate of remission (8.6%). At both assessments, organic mental illness was the most frequent diagnosis. Nursing home residents suffering from psychiatric disorders were treated predominantly by general practitioners applying a psychotropic drug regimen.

Crystal structure of the protein drug urate oxidase-inhibitor complex at 2.05 A resolution.

The gene coding for urate oxidase, an enzyme that catalyzes the oxidation of uric acid to allantoin, is inactivated in humans. Consequently, urate oxidase is used as a protein drug to overcome severe disorders induced by uric acid accumulation. The structure of the active homotetrameric enzyme reveals the existence of a small architectural domain that we call T-fold (for tunnelling-fold) domain. It assembles to form a perfect unusual dimeric alpha 8 beta 16 barrel. Urate oxidase may be the archetype of an expanding new family of tunnel-shaped proteins that now has three members; tetrahydropterin synthase, GTP cyclohydrolase I and urate oxidase. The structure of the active site of urate oxidase around the 8-azaxanthine inhibitor reveals an original mechanism of oxidation that does not require any ions or prosthetic groups.

Repeated injections of dizocilpine maleate (MK-801) do not suppress the effects of nigrostriatal dopamine deafferentation on glutamate decarboxylase (GAD67) mRNA expression in the adult rat striatum.

The present study examined the effects of glutamate transmission blockade through N-methyl-D-aspartate (NMDA) receptor subtype by repeated administration of dizocilpine maleate (0.2 mg/kg. i.p., twice a day for eight days) alone or in combination with unilateral 6-hydroxydopamine-induced lesion of the nigrostriatal dopaminergic pathway on GABAergic neurons in the adult rat striatum. For this purpose, the expression of the messenger RNA encoding for the 67 kDa isoform of the GABA synthesizing enzyme, glutamate decarboxylase (GAD67 mRNA), was studied in the various conditions by quantitative in situ hybridization. The dizocilpine maleate treatment alone did not induce significant change of GAD67 mRNA levels in the striatum, indicating that NMDA receptors may not have a major role in the transcriptional regulation of GAD67 in the adult rat striatum. As reported previously, the unilateral dopaminergic lesion resulted in marked increases in GAD67 mRNA levels in the ipsilateral striatum. This up-regulation was not significantly affected by the treatment with dizocilpine maleate started 12 days after the unilateral intranigral 6-hydroxydopamine injection. Therefore, NMDA receptors are unlikely to contribute to the dopamine lesion-induced GAD67 mRNA up-regulation in striatal projection neurons. This result is of major interest in comparison with our previous finding that NMDA receptor activation is necessary to maintain the up-regulation of enkephalin expression in the striatum after dopamine lesion.

Bilateral 6-hydroxydopamine-induced lesion of the nigrostriatal dopamine pathway reproduces the effects of unilateral lesion on substance P but not on enkephalin expression in rat basal ganglia.

This study compared the effects of unilateral and bilateral 6-hydroxydopamine-induced lesions of the nigrostriatal dopaminergic neurons on substance P and enkephalin expression in the rat striatum and its main target structures by means of quantitative in situ hybridization and immunocytochemistry. In animals with bilateral lesion, substance P mRNA levels were decreased in the striatum, and this was matched by parallel reductions in substance P immunoreactivity in the striatum and in the striatonigral terminals at substantia nigra level in both hemispheres. These changes were similar to those observed ipsilaterally to unilateral lesion. In contrast, whereas increased striatal enkephalin immunoreactivity and mRNA levels and decreased immunoreactivity in the globus pallidus were observed on the lesioned side after unilateral lesion, no significant change in these enkephalin markers occurred in animals with bilateral lesion. These data suggest that the effects of dopamine deafferentation on substance P expression in the striatonigral system may be due primarily to removal of direct dopamine influence, whereas the effects on enkephalin expression in the striatopallidal system may involve complex interhemispheric adaptive mechanisms. The present finding that bilateral dopamine lesion does not simply reproduce the effects of unilateral lesion but creates a new functional state may have a critical bearing on the understanding and treatment of Parkinson's disease.

Psychiatric disorders in gynaecological, surgical and medical departments of general hospitals in an urban and a rural area of Austria.

A total of 728 patients admitted to the medical, gynaecological and surgical departments of one urban and one rural general hospital in Austria were investigated for psychiatric morbidity. Using the Clinical Interview Schedule and its case criteria, the prevalence of psychiatric morbidity was found to be highest in medical departments (38.2%), followed by surgical departments (32.5%), and lowest in gynaecological departments (20.7%). Among medical and surgical patients, dementia and substance abuse disorders were the most frequent psychiatric categories, while in gynaecological departments neurotic disorders showed the highest frequency. For the sample as a whole, single status (i.e. unmarried, widowed or divorced), lower social class and rural catchment area of the general hospital predicted a high prevalence of psychiatric morbidity in a logistic regression analysis, while complications of childbirth, pregnancy or the puerperium, and diseases of the skin or the musculoskeletal system showed a negative association with psychiatric illness.

Chronic dizocilpine maleate (MK-801) treatment suppresses the effects of nigrostriatal dopamine deafferentation on enkephalin but not on substance P expression in the rat striatum.

The present study examined the effects of chronic treatment with dizocilpine maleate (0.2 mg/kg i.p., twice a day for 8 days) alone or in combination with unilateral 6-hydroxydopamine-induced lesion of the nigrostriatal dopaminergic neurons on substance P and enkephalin expression in the rat striatum. This was done by means of quantitative in situ hybridization histochemistry and immunocytochemistry. As reported previously, the unilateral dopaminergic lesion resulted in marked decreases in substance P mRNA expression and immunoreactivity in the ipsilateral striatum while enkephalin mRNA expression and Met-enkephalin immunoreactivity were considerably increased in this structure. Blockade of NMDA receptors by chronic dizocilpine maleate treatment alone resulted in decreased levels of striatal substance P mRNA without significant change in substance P immunoreactivity versus controls. Enkephalin mRNA levels were also decreased in the striatum, matched by parallel reductions in Met-enkephalin immunoreactivity. These observations indicate that NMDA receptor activity may exert tonic excitatory effects on substance P and enkephalin expression in the striatum. The same chronic treatment with dizocilpine maleate started 12 days after the 6-hydroxydopamine injection suppressed the lesion-induced up-regulation of enkephalin expression without significantly affecting the down-regulation of substance P expression. These data provide evidence that NMDA receptor-mediated mechanisms contribute to the alteration of striatal enkephalin expression associated with dopaminergic depletion in hemiparkinsonian rat models.

Characterization and 2D NMR study of the stable [9-21, 15-27] 2 disulfide intermediate in the folding of the 3 disulfide trypsin inhibitor EETI II.

The three disulfide Ecballium elaterium trypsin inhibitor II (EETI II) reduction with dithiothreitol (DTT) and reoxidation of the fully reduced derivative have been examined. A common stable intermediate has been observed for both processes. Isolation and sequencing of carboxymethylated material showed that the intermediate lacks the [2-19] bridge. The NMR study showed a very strong structural conservation as compared to the native EETI II, suggesting that the bridges are the [9-21] and [15-27] native ones. The differences occurred in sections 2-7 (containing the free cysteine 2 and the Arg 4-Ile 5 active site) and 19-21 (containing the second free cysteine). Distance geometry calculations and restrained molecular dynamics refinements were also in favor of a [9-21, 15-27] arrangement and resulted in a well-conserved (7-28) segment.

Evaluation of temafloxacin in a rat model of intra-abdominal abscess.

The in-vitro activity of temafloxacin, a new fluoroquinolone, was evaluated in an experimental model of intra-abdominal abscess in rats. Mixed aerobic-anaerobic infection was induced by intraperitoneal implantation of gelatin capsules containing Bacteroides fragilis, Escherichia coli, and sterile rat faeces. Temafloxacin was highly active with a 90.9% cure rate in comparison with no treatment (no cures; P less than 0.0001), and as active as a combination of clindamycin and gentamicin (100% cure rate; P greater than 0.05). Temafloxacin (12 mg/dose) gave rise to serum concentrations that exceeded the MIC values of both microorganisms for at least 8 h.

A contribution to classification of hallucinations.

Proceeding from the hypothesis that auditory hallucinations in psychotic patients have another biological basis than hallucinations provoked by hypnotic suggestion in healthy persons, we performed a symptom-comparative study by means of 99mTc-HMPAO single photon emission computed tomography. The results confirm the importance of pathogenesis in symptom-oriented psychiatric research.

[Epidemiology of drug use and abuse. Physician's role]. / Epidémiologie de l'usage et de l'abus médicamenteux. Rôle du médecin.

Drug use in a given population, whether justified by a medical prescription or not, is a subject that is often emotionally rather than objectively discussed. In this study, objective data from the Austrian population are collected in order to provide a more comprehensible view of that complex phenomenon: drug use, abuse or addition seem to relate to various factors such as gender, age, profession and local differences. Physician's role in drug use in more or less important, depending on the nature of the substance. Indeed, tranquillizers and hypnotics are medically prescribed drugs although laxatives, geriatric and homeopathic medicines are rarely prescribed by a physician. However, these factors could account for only a part of this subject and other research should focus on the relations between physician, patient and the drug.