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Exome sequencing identifies a likely causative variant in 53%of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions

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Genes & Diseases 2024年第5期11卷 40-43页

作者： Konstantin Deutsch Verena Klambt Thomas M.Kitzler Tilman Jobst-Schwan Ronen Schneider Florian Buerger Steve Seltzsam Sherif El Desoky Jameela A.Kari Farkhanda Hafeez Maria Szczepanska Loai A.Eid Hazem S.Awad Muna Al-Saffar Neveen A.Soliman Velibor Tasic Camille Nicolas-Frank Kirollos Yousef Luca M.Schierbaum Sophia Schneider Abdul Halawi Izzeldin Elmubarak kathari.a lemberg Shirlee Shril Shrikant M.Mane Nancy Rodig Friedhelm Hildebrandt Division of Nephrology Department of PediatricsBoston Children’s HospitalHarvard Medical SchoolBostonMA 02215USA Department of Pediatric Gastroenterology Nephrology and Metabolic DiseasesCharite Universitatsmedizin BerlinBerlin 13353Germany Berlin Institute of Health at Charitee Universitatsmedizin Berlin BIH Biomedical Innovation AcademyBIH Charite Clinician Scientist ProgramBerlin 10178Germany Department of Nephrology and Hypertension FriedrichAlexander-Universitat Erlangen-NurnbergErlangen 91054Germany Department of Pediatrics Faculty of Medicine King Abdulaziz UniversityPediatric Nephrology Center of ExcellenceKing Abdulaziz University HospitalJeddah 21589Saudi Arabia Department of Pediatric Nephrology The Children’s Hospital and Institute of Child HealthLahore 54000Pakistan Department of Pediatrics Faculty of Medical Sciences in ZabrzeMedical University of Silesia in KatowiceKatowice 40-752Poland Dubai Hospital and Al-Jalila Children’s Specialty Hospital Kidney Center of ExcellenceDubai 4545United Arab Emirates Department of Genetics and Genomics UAE UniversityAbu Dhabi 15551United Arab Emirates Department of Pediatrics Division of Genetics and GenomicsBoston Children’s HospitalHarvard Medical SchoolBostonMA 02215USA Department of Pediatrics Center of Pediatric Nephrology and TransplantationKasr Al Ainy School of MedicineCairo UniversityCairo 11562Egypt Egypt Center for Research and Regenerative Medicine(ECRRM) Cairo 11511Egypt Medical Faculty Skopje University Children’s HospitalSkopje 1000North Macedonia Department of Genetics Yale University School of MedicineNew HavenCT 06520USA

Nephronophthisis-related ciliopathies(NPHP-RC)represent one of the most common causes of chronic kidney disease in the first three decades of life and are characterized by a broad genetic and clinical heterogeneity.1 To date,more than 90 genes have been identified that cause autosomalrecessive NPHP-RC if mutated,accounting for up to 60%of cases.1 Among these,homozygous deletions of NPHP1 are the most common *** genes localize to primary cilia,basal bodies,or the centrosome and lead to a primary ciliary disruption if mutated,thereby causing a broad phenotypical spectrum.1 Patients that suffer from NPHP-RC can either have an isolated renal phenotype,such as polyuria,polydipsia,decreased urinary concentration ability,and secondary enuresis due to loss of tubular function,or present with extrarenal symptoms including retinal degeneration,cerebellar vermis hypoplasia,or hepatic *** are often diagnosed in early adolescence,reaching end-stage renal disease before 25 years of age,but early onset and rapidly progressive forms of NPHP-RC also exist.1 Renal ultrasound indicates kidneys of normal or reduced renal length with increased echogenicity and corticomedullary cysts.

关键词： degeneration urinary likely

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On the radiative and thermodynamic properties of the cosmic radiations using COBE FIRAS instrument data: Ⅲ. Galactic far-infrared radiation

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Research in Astronomy and Astrophysics 2015年第7期15卷 939-952页

作者： Anatoliy I Fisenko Vladimir lemberg ONCFEC Inc.

Using the three-component spectral model describing the FIRAS average continuum spectra, the exact analytical expressions for thermodynamic and radiative functions of Galactic far-infrared radiation are obtained. The COBE FIRAS instrument data in the 0.15-2.88 THz frequency interval at the mean temperatures of T1= 17.72 K, T2= 14 K and T3= 6.73 K are used for calculating the radiative and thermodynamic functions, such as the total radiation power per unit area, total energy density, total emissivity, number density of photons, Helmholtz free energy density, entropy density, heat capacity at constant volume and pressure for the warm,intermediate-temperature and very cold components of the Galactic continuum spectra. The generalized Stefan-Boltzmann law for warm, intermediate-temperature and very cold components is constructed. The temperature dependence of each component is determined by the formula IS-B（T） = σ′ T6. This result is important when we construct the cosmological models of radiative transfer that can be applied inside the Galaxy. Within the framework of the three-component spectral model, the total number of photons in our Galaxy and the total radiation power（total luminosity） emitted from a surface of the Galaxy are calculated. Their values are N6Gtotal= 1.3780 × 108 and I3Gtotal（T） = 1.0482 × 106 W. Other radiative and thermodynamic properties of the Galactic far-infrared radiation（photon gas） of the Galaxy are calculated. The expressions for astrophysical parameters, such as the entropy density/Boltzmann constant and number density of the Galactic far-infrared photons are obtained. We assume that the obtained analytical expressions for thermodynamic and radiative functions may be useful for describing the continuum spectra of the far-infrared radiation for other galaxies.

关键词： Galaxy: general -- galaxies: general

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Crohn’s and colitis in children and adolescents

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World Journal of Gastroenterology 2012年第41期18卷 5862-5869页

作者： Andrew S Day Oren Ledder Steven T Leach Daniel A lemberg Department of Gastroenterology Sydney Children's HospitalRandwickSydneyNSW 2031Australia School of Women's and Children's Health University of New South WalesSydneyNSW 2031Australia Department of Paediatrics University of Otago ChristchurchChristchurch 8140New Zealand

Crohn＇s disease and ulcerative colitis can be grouped as the inflammatory bowel diseases （IBD）. These conditions have become increasingly common in recent years, including in children and young people. Although much is known about aspects of the pathogenesis of these diseases, the precise aetiology is not yet understood, and there remains no cure. Recent data has illustrated the importance of a number of genes-several of these are important in the onset of IBD in early life, including in infancy. Pain, diarrhoea and weight loss are typical symptoms of paediatric Crohn＇s disease whereas bloody diarrhoea is more typical of colitis in children. However, atypical symptoms may occur in both conditions： these include isolated impairment of linear growth or presentation with extra-intestinal manifestations such as erythma nodosum. Growth and nutrition are commonly compromised at diagnosis in both Crohn＇s disease and colitis. Consideration of possible IBD and completion of appropriate investigations are essential to ensure prompt diagnosis, the- reby avoiding the consequences of diagnostic delay. Patterns of disease including location and progression of IBD in childhood differ substantially from adult- onset disease. Various treatment options are available for children and adolescents with IBD. Exclusive enteral nutrition plays a central role in the induction of remission of active Crohn＇s disease. Medical and surgical therapies need to considered within the context of a growing and developing child. The overall management of these chronic conditions in children should include multi-disciplinary expertise, with focus upon maintaining control of gut inflammation, optimising nutrition, growth and quality of life, whilst preventing disease or treatment-related complications.

关键词： Children Adolescents Crohn's disease Ulcerative colitis Inflammatory bowel diseases

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Glutamine synthetase activity and glutamate uptake in hippocampus and frontal cortex in portal hypertensive rats

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World Journal of Gastroenterology 2009年第23期15卷 2893-2899页

作者： Gabriela Beatriz Acosta María Alejandra Fernández Diego Martín Roselló María Luján Tomaro Karina Balestrasse Abraham lemberg Institute of Pharmacological Research (ININFA) National Research Council of Argentina (CONICET) and University of Buenos Aires Junín 956. 5th floor C1113AAD Buenos Aires Argentina Laboratory of Portal Hypertension School of Pharmacy and Biochemistry University of Buenos Aires Junín 956. 5th floor C1113AAD Buenos Aires Argentina Department of Biological Chemistry School of Pharmacy and Biochemistry University of Buenos Aires Junín 596. 5th floor C1113AAD Buenos Aires Argentina

AIM: To study glutamine synthetase (GS) activity and glutamate uptake in the hippocampus and frontal cortex (FC) from rats with prehepatic portal vein hypertension. METHODS: Male Wistar rats were divided into shamoperated group and a portal hypertension (PH) group with a regulated stricture of the portal vein. Animals were sacrificed by decapitation 14 d after portal vein stricture. GS activity was determined in the hippocampus and FC. Specific uptake of radiolabeled L-glutamate was studied using synaptosome-enriched fractions that were freshly prepared from both brain areas. RESULTS: We observed that the activity of GS increased in the hippocampus of PH rats, as compared to control animals, and decreased in the FC. A significant decrease in glutamate uptake was found in both brain areas, and was more marked in the hippocampus. The decrease in glutamate uptake might have been caused by a deficient transport function, signif icantly and persistent increase in this excitatory neurotransmitter activity. CONCLUSION: The presence of moderate ammonia blood levels may add to the toxicity of excitotoxic glutamate in the brain, which causes alterations in brain function. Portal vein stricture that causes portal hypertension modif ies the normal function in some brain regions.

关键词： Portal hypertension Glutamine synthetase Glutamate uptake Frontal cerebral cortex Hippocampus Rat

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Campylobacter concisus and inflammatory bowel disease

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World Journal of Gastroenterology 2014年第5期20卷 1259-1267页

作者： Li Zhang Hoyul Lee Michael C Grimm Stephen M Riordan Andrew S Day Daniel A lemberg School of Biotechnology and Biomo-lecular Sciences University of New South Wales St George and Sutherland Clinical School University of New South Wales Gastrointestinal and Liver Unit The Prince of Wales Hospital Prince of Wales Clinical School University of New South Wales Department of Gastroenter-ology Sydney Children’s Hospital Department of Pediatrics University of Otago Christchurch School of Women’s and Children’s Health University of New South Wales

Investigation of the possible role of Campylobacter concisus(C. concisus) in inflammatory bowel disease(IBD) is an emerging research area. Despite the association found between C. concisus and IBD, it has been difficult to explain how C. concisus, a bacterium that is commonly present in the human oral cavity, may contribute to the development of enteric diseases. The evidence presented in this review shows that some C. concisus strains in the oral cavity acquired zonula occludens toxin(zot) gene from a virus(prophage) and that C. concisus Zot shares conserved motifs with both Vibrio cholerae Zot receptor binding domain and human zonulin receptor binding domain. Both Vibrio cholerae Zot and human zonulin are known to increase intestinal permeability by affecting the tight junctions. Increased intestinal permeability is a feature of IBD. Based on these data, we propose that a primary barrier function defect caused by C. concisus Zot is a mechanism by which zot-positive C. concisus strains may trigger the onset and relapse of IBD.

关键词： Campylobacter concisus Inflammatory bowel disease Zonula occludens toxin Tight junctions Intestinal permeability

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Altered blood-brain barrier permeability in rats with prehepatic portal hypertension turns to normal when portal pressure is lowered

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World Journal of Gastroenterology 2006年第9期12卷 1367-1372页

作者： Francisco Eizayaga Camila Scorticati Juan P Prestifilippo Salvador Romay Maria A Fernandez José L Castro Abraham lemberg Juan C Perazzo Laboratory of Portal Hypertension Department of Pathophysiology School of Pharmacy and BiochemistryUniversity of Buenos AiresBuenos AiresArgentina Catedra de Farmacología School of Pharmacy and Biochemistry University of Buenos Aires Buenos Aires Argentina Laboratory of Portal Hypertension Department of Pathophysiology School of Pharmacy and Biochemistry University of Buenos Aires Buenos AiresArgentina

AIM： To study the blood-brain barrier integrity in prehepatic portal hypertensive rats induced by partial portal vein ligation, at 14 and 40 dafer ligation when portal pressure is spontaneously normalized. METHODS： Adult male Wistar rats were divided into four groups： Group Ⅰ： Sham14d, sham operated; Group Ⅱ： PHil, portal vein stenosis, （both groups were used 14 days after surgery）; Group Ⅲ： Sham4od, Sham operated and Group Ⅳ： PH4od Portal vein stenosis （Groups Ⅱ and Ⅳ used 40 d afer surgery）. Plasma ammonia, plasma and cerebrospinal fluid protein and liver enzymes concentrations were determined. Trypan and Evans blue dyes, systemically injected, were investigated in hippocampus to study blood-brain barrier integrity. Portal pressure was periodically recorded. RESULTS： Forty days afer stricture, portal pressure was normalized, plasma ammonia was moderately high, and both dyes were absent in central nervous system parenchyma. All other parameters were reestablished. When portal pressure was normalized and ammonia level was lowered, but not normal, the altered integrity of blood-brain barrier becomes reestablished. CONCLUSION： The impairment of blood-brain barrier and subsequent normalization could be a mechanism involved in hepatic encephalopathy reversibility. Hemodynamic changes and ammonia could trigger blood-brain barrier alterations and its reestablishment.

关键词： Blood-brain barrier Rats Prehepatic portal hypertension

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A Novel Modular Permanent Magnet Drive System Design

A Novel Modular Permanent Magnet Drive System Design

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CES/IEEE 5th International Power Electronics and Motion Control Conference

作者： Nicholas lemberg Department of Electrical and Computer Engineering University of Wisconsin-Madison 1415 Engineering Drive Madison WI 53706

＜正＞With improvement in magnetic property of soft magnetic composites （SMC）, electrical machines can be fabricated with more flexible structure at low cost, which results in more options of the drive system design different from the conventional technology, for example, 3D machine structure compared with the 2D structure enforced by the lamination sheets. In this paper, a modular permanent drive system based on the independent machine module and drive circuit are proposed. With independent control, the potential of fault tolerant capability of the drive system is discussed as well. The experiment results from the prototype system will be provided for the verification.

关键词： Permanent Magnet Modular Design Fault Tolerant

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Hepatic encephalopathy:An approach to its multiple pathophysiological features

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World Journal of Hepatology 2012年第3期4卷 50-65页

作者： Juan Carlos Perazzo Silvina Tallis Amalia Delfante Pablo Andrés Souto Abraham lemberg Francisco Xavier Eizayaga Salvador Romay Laboratory of Portal Hypertensionand Hepatic Encephalopathy PathophysiologySchool of Pharmacy and BiochemistryUniversity of Buenos Aires Laboratory of Experimental Pathology School of MedicineUniversity of Buenos Aires Clinical Unit General Hospital I PirovanoGCBA

Hepatic encephalopathy(HE)is a neuropsychiatric complex syndrome,ranging from subtle behavioral abnormalities to deep coma and *** encephalopathy emerges as the major complication of acute or chronic liver *** of factors are involved in its pathophysiology,such as central and neuromuscular neurotransmission disorder,alterations in sleep patterns and cognition,changes in energy metabolism leading to cell injury,an oxidative/nitrosative state and a neuroinflammatory ***,in acute HE,a condition of imminent threat of death is present due to a deleterious astrocyte *** chronic HE,changes in calcium signaling,mitochondrial membrane potential and long term potential expression,N-methyl-D-aspartate-cGMP and peripheral benzodiazepine receptors alterations,and changes in the mRNA and protein expression and redistribution in the cerebral blood flow can be *** main molecule indicated as responsible for all these changes in HE is *** is no doubt that ammonia,a neurotoxic molecule,triggers or at least facilitates most of these *** plasma levels are increased two-to three-fold in patients with mild to moderate cirrhotic HE and up to ten-fold in patients with acute liver failure. Hepatic and inter-organ trafficking of ammonia and its metabolite,glutamine(GLN),lead to hyperammonemic *** of hepatic ammonia is a differentiated work that includes the hepatocyte,through the urea cycle,converting ammonia into GLN via glutamine *** pathological conditions,such as liver damage or liver blood bypass,the ammonia plasma level starts to rise and the risk of HE developing is high. Knowledge of the pathophysiology of HE is rapidly expanding and identification of focally localized triggers has led the development of new possibilities for HE to be *** editorial will focus on issues where, to the best of our knowledge,more research is needed in order to clarify,at least partially

关键词： Liver failure Hepatic encephalopathy Ammonia and central nervous system Hyperammonemia

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复杂性心动过速的诊断和治疗

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国际护理学杂志 1988年第3期 135-136页

作者： Barbara K.Valladares ,Louis lemberg ,田霞

患者32岁,电信局工人,因夜间突发性胸痛而就诊。睡前已有几小时心悸,头昏感觉,但直到发作剧烈的胸骨后疼痛才予以重视。在急诊室,病人有轻度烦躁,皮肤湿冷,心律134次/分,血压80/50mmHg,肺野清晰。既往有高血压史,用双氢克尿噻治疗已经5... 详细信息

患者32岁,电信局工人,因夜间突发性胸痛而就诊。睡前已有几小时心悸,头昏感觉,但直到发作剧烈的胸骨后疼痛才予以重视。在急诊室,病人有轻度烦躁,皮肤湿冷,心律134次/分,血压80/50mmHg,肺野清晰。既往有高血压史,用双氢克尿噻治疗已经5年。另据病人妻子介绍,患者有阵发性心悸多年,每次发作几分钟,曾用心得安治疗,但因药物副作用而中断治疗。最近一直在用奎尼丁治疗,4次/日每次300mg 急诊室作的心电图见图1。

关键词：心动过速房室分离传导阻滞心搏过速心律失常房室脱节 QRS 维拉帕米异搏定室性

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