Eva Martin

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Comorbid diseases among bullous pemphigoid patients in Germany: new insights from a case‐control study

Journal der Deutschen Dermatologischen Gesellschaft, Jun 3, 2022

Modified Appleby Procedure (Distal Pancreatectomy with Celiac Artery Resection) for Locally Advanced Pancreatic Carcinoma: Two Case Report

Hpb, 2021

Variable Expressivity of HNF1B Nephropathy, From Renal Cysts and Diabetes to Medullary Sponge Kidney Through Tubulo-interstitial Kidney Disease

Kidney International Reports, Oct 7, 2020

In humans, heterozygous mutations of hepatocyte nuclear factor 1beta (HNF1B) are responsible for ... more In humans, heterozygous mutations of hepatocyte nuclear factor 1beta (HNF1B) are responsible for a dominant inherited disease with both renal and extrarenal phenotypes. HNF1B nephropathy is the umbrella term that includes the various kidney phenotypes of the disease, ranging from congenital anomalies of the kidney and urinary tract (CAKUT), to tubular transport abnormalities, to chronic tubulointerstitial and cystic renal disease. Methods: We describe 7 families containing 13 patients with ascertained HNF1B nephropathy. All patients underwent genetic testing and clinical, laboratory, and instrumental assessment, including renal imaging and evaluation of extrarenal HNF1B manifestations. Results: Significant inter-and intrafamilial variability of HNF1B nephropathy has been observed. In our cohort, HNF1B pathogenic variants presented with renal cysts and diabetes syndrome (RCAD); renal cystic phenotype mimicking autosomal dominant polycystic kidney disease (ADPKD); autosomal dominant tubulointerstitial kidney disease (ADTKD) with or without hyperuricemia and gout; CAKUT; and nephrogenic diabetes insipidus (NDI). Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring the HNF1B whole-gene deletion at chromosome 17q12. Genotype characterization led to the identification of an additional 6 novel HNF1B pathogenic variants, 3 frameshift, 2 missense, and 1 nonsense. Conclusion: HNF1B nephropathy may present with a highly variable renal phenotype in adult patients. We expand the HNF1B renal clinical picture to include MSK as a potential new finding. Finally, we expand the allelic repertoire of the disease by adding novel HNF1B pathogenic variants.

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Solid Pseudopapillary Neoplasm of the Pancreas: Two Case Report

Hpb, 2021

Lessons From the Clinic: ADPKD Genetic Test Unraveling Severe Phenotype, Intrafamilial Variability, and New, Rare Causing Genotype

Kidney International Reports, 2022

Claudia Izzi, Chiara Dordoni, Elisa Delbarba, Cinzia Mazza, Gianfranco Savoldi, Laura Econimo, Ro... more Claudia Izzi, Chiara Dordoni, Elisa Delbarba, Cinzia Mazza, Gianfranco Savoldi, Laura Econimo, Roberta Cortinovis, Letizia Zeni, Eva Martin, Federico Alberici and Francesco Scolari Division of Nephrology and Dialysis, Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, University of Brescia and ASST-Spedali Civili, Brescia, Italy; Medical Genetics Clinic, Department of Obstetrics and Gynecology, ASST-Spedali Civili, Brescia, Italy; Medical Genetics Laboratory, ASST-Spedali Civili, Brescia, Italy; Università degli Studi della Campania Luigi Vanvitelli, Napoli, Italy; and Radiology Unit, Montichiari Hospital, ASST-Spedali Civili, Brescia, Italy

P0074EXPANDING the Variability of the Adpkd-Ganab Clinical Phenotype: A New Family of Italian Ancestry

Nephrology Dialysis Transplantation, Jun 1, 2020

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Circadian and feeding rhythms differentially affect rhythmic mRNA transcription and translation in mouse liver

Proceedings of the National Academy of Sciences, 2015

Significance Rhythmic gene regulation in mouse liver results from an intertwined relationship bet... more Significance Rhythmic gene regulation in mouse liver results from an intertwined relationship between feeding cycles and the circadian clock. Significant efforts have been made to understand this interaction but a complete picture of the resulting diurnal transcription–translation processes is still missing. Through the simultaneous quantification of temporal transcription, accumulation, and translation of mRNA in the liver, we investigated the regulatory landscape of mice with intact or deficient circadian clock subjected to different feeding regimens. We showed that circadian clock and feeding rhythms coordinate rhythmic transcription to drive downstream rhythmic mRNA accumulation and translation. However, a subset of genes harboring 5′-Terminal Oligo Pyrimidine tract or Translation Initiator of Short 5′-UTR elements encoding proteins involved in translation and mitochondrial activity, respectively, present a transcription-independent rhythmic translation mainly regulated by feedi...

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Retrospective Reports of Dream Characteristics and Preferences for Organic vs Junk Foods

Psychological Reports, 2007

The authors investigated correlations between retrospective dream characteristics, food preferenc... more The authors investigated correlations between retrospective dream characteristics, food preferences, and eating attitudes. Graduate students (7 men, 42 women) at Santa Clara University were administered the MEGA food scale and the KJP Dream Inventory. High intake of organic food was positively correlated with reports of multiple dream factors. Conversely, high scores on preferences for fast food, potato chips, and carbohydrates were negatively correlated with several factors. Findings are discussed in terms of the hypothesis that certain foods may influence dreaming.

Siglec-15 recognition of sialoglycans on tumor cell lines can occur independently of sialyl Tn antigen expression

Glycobiology, 2020

Siglec-15 is a conserved sialic acid-binding Ig-like lectin expressed on osteoclast progenitors, ... more Siglec-15 is a conserved sialic acid-binding Ig-like lectin expressed on osteoclast progenitors, which plays an important role in osteoclast development and function. It is also expressed by tumor-associated macrophages and by some tumors, where it is thought to contribute to the immunosuppressive microenvironment. It was shown previously that engagement of macrophage-expressed Siglec-15 with tumor cells expressing its ligand, sialyl Tn (sTn), triggered production of TGF-β. In the present study, we have further investigated the interaction between Siglec-15 and sTn on tumor cells and its functional consequences. Based on binding assays with lung and breast cancer cell lines and glycan-modified cells, we failed to see evidence for recognition of sTn by Siglec-15. However, using a microarray of diverse, structurally defined glycans, we show that Siglec-15 binds with higher avidity to sialylated glycans other than sTn or related antigen sequences. In addition, we were unable to demonst...

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Primary cell-based phenotypic assays to pharmacologically and genetically study fibrotic diseases in vitro

Journal of Biological Methods, 2019

Ongoing tissue repair and formation and deposition of collagen-rich extracellular matrix in tissu... more Ongoing tissue repair and formation and deposition of collagen-rich extracellular matrix in tissues and organs finally lead to fibrotic lesions and destruction of normal tissue/organ architecture and function. In the lung, scarring is observed in asthma, chronic obstructive pulmonary disease and idiopathic pulmonary fibrosis to various degrees. At the cellular level immune cells, fibroblasts and epithelial cells are all involved in fibrotic processes. Mechanistically, fibroblast to myofibroblast transformation and epithelial to mesenchymal transition are major drivers of fibrosis. Amongst others, both processes are controlled by transforming growth factor beta-1 (TGFβ-1), a growth factor upregulated in idiopathic pulmonary fibrosis lungs. Phenotypic assays with primary human cells and complex disease-relevant readouts become increasingly important in modern drug discovery processes. We describe high-content screening based phenotypic assays with primary normal human lung fibroblasts...

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Circadian clock-dependent and -independent rhythmic proteomes implement distinct diurnal functions in mouse liver

Proceedings of the National Academy of Sciences, 2013

Significance Circadian clocks orchestrate daily rhythms in behavior and physiology using temporal... more Significance Circadian clocks orchestrate daily rhythms in behavior and physiology using temporal regulation of gene expression to control core clock genes and rhythmic output programs. Although transcription regulation was shown to drive extensive diurnal mRNA rhythms, less is known about the proteins. Here, we provide a proteome-wide study of rhythmic protein accumulation in mouse liver, showing that proteins preferentially accumulate in the morning and during the night. About one-half of these rhythmic proteins could not be explained by rhythmic mRNAs, suggesting that translational or posttranslational regulation plays an important role. Moreover, such rhythms involved many secreted proteins and were clock-independent. Hence, these findings indicate that feeding behavior might determine the rhythmic functions of circulating proteins in the blood. Diurnal oscillations of gene expression controlled by the circadian clock underlie rhythmic physiology across most living organisms. Al...

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Changes in physical characteristics of endourologic catheters caused by shock waves

Archivos españoles de urología, 1996

OBJECTIVE: To analyze the shock wave effects on double-J stent. METHODS: Retention strength modif... more OBJECTIVE: To analyze the shock wave effects on double-J stent. METHODS: Retention strength modifications induced by shock waves were analyzed: a) 60 double-J stents obtained from patients were compared (20 had not been treated by ESWL; 20 had been treated by piezoelectric-ESWL and 20 by electrohydraulic-ESWL; b) the effects of piezoelectric-ESWL were determined in vitro using 36 stress-tested double-J stent segments (Urosoft, C-Flex and silicone) vs. a control group. RESULTS: The retention strength of the stents from ESWL-treated patients, especially those that had been submitted to piezoelectric-ESWL, was lower than in stents from patients that had not undergone ESWL (p < 0.05). The foregoing has been corroborated by the in vitro findings. The impact frequency causing maximum damage is specific for each material. Microphotographic studies revealed fracture lines on the surfaces of the ESWL-treated stents (Urosoft and C-Flex). CONCLUSIONS: The foregoing findings may explain the ...

Perturbed rhythmic activation of signaling pathways in mice deficient for Sterol Carrier Protein 2-dependent diurnal lipid transport and metabolism

Scientific Reports, 2016

Through evolution, most of the living species have acquired a time keeping system to anticipate d... more Through evolution, most of the living species have acquired a time keeping system to anticipate daily changes caused by the rotation of the Earth. In all of the systems this pacemaker is based on a molecular transcriptional/translational negative feedback loop able to generate rhythmic gene expression with a period close to 24 hours. Recent evidences suggest that post-transcriptional regulations activated mostly by systemic cues play a fundamental role in the process, fine tuning the time keeping system and linking it to animal physiology. Among these signals, we consider the role of lipid transport and metabolism regulated by SCP2. Mice harboring a deletion of the Scp2 locus present a modulated diurnal accumulation of lipids in the liver and a perturbed activation of several signaling pathways including PPARα, SREBP, LRH-1, TORC1 and its upstream regulators. This defect in signaling pathways activation feedbacks upon the clock by lengthening the circadian period of animals through ...

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Trend in active transportation to school among Swiss school children and its associated factors: three cross-sectional surveys 1994, 2000 and 2005

The International Journal of Behavioral Nutrition and Physical Activity, 2010

BackgroundGiving the rising trend in childhood obesity in many countries including Switzerland, s... more BackgroundGiving the rising trend in childhood obesity in many countries including Switzerland, strategies to increase physical activity such as promoting active school travel are important. Yet, little is known about time trends of active commuting in Swiss schoolchildren and factors associated with changes in walking and biking to school.MethodsBetween 1994 and 2005, information about mobility behaviour of children aged 6-14 years was collected within three Swiss population based national travel behaviour surveys. Mode of transport to school was reported for 4244 children. Weighted multivariate logistic regression analyses were used to assess active school travel time trends and their influencing factors.ResultsMore than 70% of Swiss children walked or biked to school. Nevertheless, the proportion of children biking to school decreased (p = 0.05, linear trend), predominately in urban areas, and motorized transportation increased since 1994 (p = 0.02). Distance to school did not ch...

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The Mouse Microbiome Is Required for Sex-Specific Diurnal Rhythms of Gene Expression and Metabolism

Cell Metabolism, 2019

Summary The circadian clock and associated feeding rhythms have a profound impact on metabolism a... more Summary The circadian clock and associated feeding rhythms have a profound impact on metabolism and the gut microbiome. To what extent microbiota reciprocally affect daily rhythms of physiology in the host remains elusive. Here, we analyzed transcriptome and metabolome profiles of male and female germ-free mice. While mRNA expression of circadian clock genes revealed subtle changes in liver, intestine, and white adipose tissue, germ-free mice showed considerably altered expression of genes associated with rhythmic physiology. Strikingly, the absence of the microbiome attenuated liver sexual dimorphism and sex-specific rhythmicity. The resulting feminization of male and masculinization of female germ-free animals is likely caused by altered sexual development and growth hormone secretion, associated with differential activation of xenobiotic receptors. This defines a novel mechanism by which the microbiome regulates host metabolism.

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