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After some general introductory remarks, a case of Laurence-Moon-Bardet-Biedl syndrome is reported. The main physiopathological aspects of the syndrome and some elements of differential diagnosis are discussed.
The authors report the case of a 6-year-old girl with Laurence-Moon-Bardet-Biedl syndrome and chronic tubulo-interstitial nephritis with glomerulosclerosis requiring chronic peritoneal dialysis, then haemodialysis. One year later, minimal hepatic involvement occurs, leading to portal hypertension. The liver biopsy reveals periportal fibrosis with many small bile ducts.
The Laurence Moon Biedl Bardet syndrome is a polymorphous disease whose pathogenesis is still obscure. It is characterize by obesity, oligophrenia, polidactylia, retinitis pigmentosa, hipogonadism, but often there are various others symptoms. AA describe two cases. After a short explanation of de main features of this disease, they dwell upon the study of clinical objective symtomatology and upon instrumental and laboratory parameters regarding hormonal, metabolic and functional order of various organs and apparatuses. Both cases present all classic symptoms of this disease. In the first case we have noticed a deficit in LH and FSH, besides we have also noticed an asymmetry of the lateral ventricles of the brain prevalently on the right and a small increase in 17-KS and 17-OH-KS urinary. On the contrary in the second case we have noticed an EEG of epileptic type.
Three cases of Laurence-Moon-Bardet-Biedl (LMBB) syndrome with renal involvement characterized by tubulo-interstitial lesions are reported. Caliceal deformations were noted on urography. From 55 additional cases found in the literature the main characteristics of the renal disease in LMBB are defined : impairment of renal concentration is present in 36 % of the cases, and urographic abnormalities, mainly dysplasic features and multiple cystic formations on the calices, in 90 %; tubulo interstitial lesions are the most frequent histological finding. The renal involvement lead to chronic renal insufficiency responsible for the death of 60 % of the patients. Renal disease appears therefore as the sixth cardinal features of the LMBB syndrome and makes this syndrome as an entity close to other hereditary disorders with renal abnormalities as Alström syndrome.
Report on a classical Laurence-Moon-Bardet-Biedl-syndrome (LMBB-Syndrome). After a 9 (to 10) year-period of irregular bleedings caused by proved monophasic menstrual cycles and Stein-Leventhal-syndrome an endometrial adenocarcinoma arose in the 23 old patient. The possible carcinogenesis by virtue of an extraglandular oestrogen-(oestron-) production is discussed. The frequently observed nephropathy is often a decisive factor in morbidity and letyality of the LMBB-syndrome.
A 39 year old man with 4 of the 5 cardinal features of the Laurence-Moon-Biedl syndrome (LMBS) had proteinuria and moderate renal failure. Excretory urography showed small cysts communicating with the dilated calyceal system. Renal biopsy showed diffuse mesangial sclerosis and cellular proliferation. Excretory urograms in 22 of 24 reported patients demonstrated similar findings. Review of renal pathology reports on 16 patients revealed either chronic glomerulonephritis or severe tubulo-interstitial disease with cysts or both in 8 of 9 who died from uremia and 2 of 7 who died from other causes. The abnormalities seen on excretory urography occur more frequently than 2 of the cardinal features, and as uremia is often the cause of death for these patients, renal disease should be considered a cardinal feature of LMBS.
Renal disease, although not a cardinal feature of the Laurence-Moon-Biedl-Bardet syndrome (LMBBS), occurs in more than 70% of patients and is an important cause of morbidity and mortality. Renal ultrastructural changes have not been well delineated. We have studied glomeruli from three patients with LMBBS and have found similar ultrastructural changes in glomerular basement membrane (GBM). Two patients had decreased renal function, hypertension, and markedly abnormal intravenous urograms with reduced concentration of dye and abnormal pelvicalyceal systems; one patient had normal renal function and minimal distortion of the pelvicalyceal system of one kidney. Ligh microscopy revealed varying degrees of increase in mesangial cellularity and matrix. These changes involved almost all glomeruli and were segmental. The abnormalities ranged from mild mesangial cell proliferation to complete sclerosis of the glomerular tuft. Ultrastructural study revealed marked alterations of the glomerular basement membrane: effacement of the trilaminar architecture, segmental and irregular thickening alternating with thinning and rarefaction, accumulation of granular and fibrillary material within the inner third of the GBM. These ultrastructural changes may be the earliest and primary glomerular abnormality seen in LMBBS because they were seen in a patient who had minimal changes on light microscopy.
Lawrence-Moon-Bardet-Biedl Syndrome (LMBBS) is a rare disorder that presents most commonly with five cardinal features including polydactyly. A review of LMBBS and a case report is presented. The practitioner should be aware that polydactyly may be one manifestation of a genetic syndrome.
A case of Laurence-Moon-Biedl-Bardet syndrome in a patient undergoing hemodialysis is reported. The principal characteristics of this congenital syndrome are described. A possible pathogenetic mechanism of the atypical form of retinitis pigmentosa (sine pigmento) is discussed.
Laurence-Moon-Bardet-Biedl (LMBB) syndrome is a symptom complex that usually presents with retinitis pigmentosa, poly- or syndactyly, mental retardation, obesity and hypogenitalism. Cotard's syndrome is a state in which the central symptom is a delusion of negation. The case reported here is a combination of these two rare conditions.
We give a new formula expressing the components of the mean force in terms of a conditional expectation which can be computed by Blue Moon sampling. This generalizes to the vectorial case a formula first derived by Ruiz-Montero et al. for a scalar reaction coordinate. We also discuss how to compute this conditional average by means of constrained stochastic dynamics which, unlike the usual constrained molecular dynamics, introduces no bias. Finally, we give a new perspective on bias removal by using constrained molecular dynamics.
We describe a strategy that identifies molecular biomarkers and links the study of abiotic stress to evolutionary history. By utilizing the moon jellyfish Aurelia spp. as a model, we identified genes differentially regulated in response to the chemical stressor tributyltin by means of complementary DNA subtraction analyses. Expression of 3 out of 25 identified candidate genes, one oxidative stress gene, one heat shock (hsp70) gene, and one GTP-binding gene, was quantified under laboratory conditions and in field tests using semiquantitative reverse transcriptase polymerase chain reaction. Differential expression patterns were found following exposure to tributyltin and temperature treatments. The findings suggest that the identified genes are involved in response to chemical as well as heat- induced stress and may serve as biomarkers for monitoring marine habitats. Gene regulatory patterns combined with phylogenetic inferences of the hsp70 gene support a possible role of ecologically driven divergence within the genus Aurelia. We show that added information on genetic variability can raise the predictive power of molecular biomarkers in studies of individual stress response.
Paralytic toxicity was detected in 28 of 38 specimens of the gastropod mollusk Natica lineata (lined moon shell). The highest toxicity, expressed as tetrodotoxin (TTX), was 720 mouse units per gram (MU/g) muscle, followed by other parts which included salivary gland, brain and mouth organs (28 MU/g) and digestive gland (12 MU/g). The toxin was partially purified by ultrafiltration and Bio-Gel P-2 column chromatography. The toxin showed a specific toxicity (as TTX) of 620 MU/mg. Results of analyses by thin layer chromatography, cellulose acetate membrane electrophoresis and high performance liquid chromatography showed that the toxin was composed of TTX and anhydrotetrodotoxin. This is the first time that TTX and its related substance have been found in this species of gastropod.
The lined moon shell Natica lineata secretes tetrodotoxin (TTX) in response to an external stimulation such as removal from the seawater. The toxin released from the shellfish contained 14-361 mouse units of TTX per specimen. The shellfish did not secrete any further toxin when seawater removal was repeated over four times at about 1 hr intervals. All specimens recovered TTX secreting ability when they were kept in an aquarium for 5 days.
Two lignans, phyllamycin B and retrojusticidin B isolated from Phyllanthus myrtifolius Moon have been demonstrated to have a strong inhibitory effect on human immunodeficiency virus-1 reverse transcriptase activity (HIV-1 RT), but much less inhibitory effect on human DNA polymerase-alpha (HDNAP-alpha) activity. Fifty percent inhibitory concentrations of phyllamycin B and retrojusticidin B were determined to be 3.5 and 5.5 microM for HIV-1 RT, and 289 and 989 microM for HDNAP-alpha, respectively. The mode of inhibition was found to be non-competitive inhibition with respect to template-primer and triphosphate substrate. Several tannins such as caffeoylquinates (CQs) isolated from Lonicera japonica Thunb, galloylquinates (GQs) and galloylshikimates (GSs) purified from Castanopsis hystrix were shown to have a much less selective inhibitory effect on HIV-1 RT.
The 16,937-nuceotide sequence of the linear mitochondrial DNA (mt-DNA) molecule of the moon jelly Aurelia aurita (Cnidaria, Scyphozoa) - the first mtDNA sequence from the class Scypozoa and the first sequence of a linear mtDNA from Metazoa - has been determined. This sequence contains genes for 13 energy pathway proteins, small and large subunit rRNAs, and methionine and tryptophan tRNAs. In addition, two open reading frames of 324 and 969 base pairs in length have been found. The deduced amino-acid sequence of one of them, ORF969, displays extensive sequence similarity with the polymerase [but not the exonuclease] domain of family B DNA polymerases, and this ORF has been tentatively identified as dnab. This is the first report of dnab in animal mtDNA. The genes in A. aurita mtDNA are arranged in two clusters with opposite transcriptional polarities; transcription proceeding toward the ends of the molecule. The determined sequences at the ends of the molecule are nearly identical but inverted and lack any obvious potential secondary structures or telomere-like repeat elements. The acquisition of mitochondrial genomic data for the second class of Cnidaria allows us to reconstruct characteristic features of mitochondrial evolution in this animal phylum.
Laboratory simulations have been carried out to model chemical reactions that possibly take place in the stratosphere of Saturn's moon, Titan. The aerosol products of these reactions (tholin samples) have been systematically analyzed by mass spectrometry using electrospray ionization (ESI) and laser desorption (LD). A wide variety of ions with a general formula C(x)H(y)N(z) detected by ultrahigh resolution and accurate mass measurements in a Fourier transform/ion cyclotron resonance (FT-ICR) cell reflect the complexity of these polymeric products, both in chemical compositions and isomeric distributions. As a common feature, however, tandem mass spectral (MS/MS) data and H/D exchange products in the solution phase support the presence of amino and nitrile functionalities in these (highly unsaturated) "tholin" compounds. The present work demonstrates that ESI-MS coupled with FT-ICR is a suitable and "intact" method to analyze tholin components formed under anaerobic conditions; only species with C(x)H(y)N(z) are detected for freshly prepared and harvested samples. However, when intentionally exposed to water, oxygen-containing compounds are unambiguously detected.
Laurence-Moon-Bardet-Biedl syndrome represents a very rare indication for kidney transplantation. Previous reports mention only pediatric organ recipients with this diagnosis. We present the case of a Caucasian male patient who underwent a cadaveric renal transplantation at the age of 57 years. Our patient had an uneventful immediate postoperative course; however, 4 months after the operation he suffered pneumonia and cytomegalovirus infection. He recovered fully and had an episode of acute cholecystitis. At the time of the laparoscopic cholecystectomy we also laparoscopically removed his Tenckhoff catheter, a procedure he could not undergo for more than a year because of a chronic scabies infection. Now, 18 months after his transplantation he is fully rehabilitated with a serum creatinine of 90 micromol/L. In selected cases even in older age kidney transplantation could offer a higher quality of life for this mentally retarded, blind population.