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1. Non-collagen genes role in digenic Alport syndrome

Author

S. Daga, C. Fallerini, S. Furini, C. Pecoraro, F. Scolari, F. Ariani, M. Bruttini, M. A. Mencarelli, F. Mari, A. Renieri, and A. M. Pinto

Subjects
Alport syndrome, LAMA5, NPHS2, Digenic inheritance, WES, Diseases of the genitourinary system. Urology, RC870-923
Abstract

Abstract Background Alport syndrome is a clinically heterogeneous nephropathy characterized by severe symptomatology at kidney level due to ultrastructural lesions of the glomerular basement membrane (GBM) as consequence of mutations in COL4 genes. The disease has been linked to COL4A3/COL4A4/COL4A5 mutations, which impair GBM functionality and can be inherited in a dominant, recessive or X-linked transmission. Although a targeted Next Generation Sequencing approach has allowed identifying families with pathogenic mutations in more than one COL4 α3-α4-α5 heterotrimer encoding genes, leading to conclude for a digenic pattern of inheritance, the role of non-collagen genes in digenic Alport syndrome has not yet been established. Methods We employed a whole-exome sequencing approach on three families in whom a digenic pattern of transmission could be suspected because of a likely biparental contribution or an unexplained phenotype in the proband. Results We identified in the three probands hypomorphic LAMA5 mutations co-inherited with pathogenic COL4 α4-α5 chains mutations. Segregation analysis revealed that the combination of LAMA5/COL4 variants co-segregate with a fully penetrant phenotype in line with a digenic inheritance. In one of the three probands an hypomorphic variant in NPHS2 was also found, suggesting that role of other kidney disease related-genes as modifiers. Conclusion These findings validate the impact of LAMA5 mutations in digenic ATS and highlight the role of extracellular matrix’s genes, basement membrane, slit diaphragm and podocyte cytoskeleton in ATS. This underline the need for a more extensive panel approach in the presence of a digenic ATS, in order to better define clinical severity and recurrence risk for family members.

Published
2019
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2. Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH)

Author

Marco Bonomi, Valeria Vezzoli, Csilla Krausz, Fabiana Guizzardi, Silvia Vezzani, Manuela Simoni, Ivan Bassi, Paolo Duminuco, Natascia Di Iorgi, Claudia Giavoli, Alessandro Pizzocaro, Gianni Russo, Mirella Moro, Letizia Fatti, Alberto Ferlin, Laura Mazzanti, Maria Chiara Zatelli, Salvo Cannavò, Andrea M Isidori, Angela Ida Pincelli, Flavia Prodam, Antonio Mancini, Paolo Limone, Maria Laura Tanda, Rossella Gaudino, Mariacarolina Salerno, Pregnolato Francesca, Mohamad Maghnie, Mario Maggi, Luca Persani, G Aimaretti, M Altobelli, M R Ambrosio, M Andrioli, G Angeletti, F Arecco, G Arnaldi, M Arosio, A Balsamo, M Baldassarri, L Bartalena, N Bazzoni, L Beccaria, P Beck-Peccoz, G Bellastella, M Bellizzi, F Benedicenti, S Bernasconi, C Bizzarri, G Bona, S Bonadonna, G Borretta, M Boschetti, A Brunani, V Brunelli, F Buzi, C Cacciatore, B Cangiano, M Cappa, R Casalone, A Cassio, P Cavarzere, V Cherubini, T Ciampani, D Cicognani, A Cignarelli, M Cisternino, P Colombo, S Corbetta, N Corciulo, G Corona, R Cozzi, C Crivellaro, I Dalle Mule, L Danesi, A V D’Elia, E degli Uberti, S De Leo, E Della Valle, M De Marchi, N Di Iorgi, A Di Mambro, A Fabbri, C Foresta, G Forti, A R Franceschi, A Garolla, M Ghezzi, C Giacomozzi, M Giusti, E Grosso, G Guabello, M P Guarneri, G Grugni, A M Isidori, F Lanfranco, A Lania, R Lanzi, L Larizza, A Lenzi, S Loche, P Loli, V Lombardi, M C Maggio, G Mandrile, C Manieri, G Mantovani, S Marelli, M Marzullo, M A Mencarelli, N Migone, G Motta, G Neri, G Padova, G Parenti, B Pasquino, A Pia, E Piantanida, E Pignatti, A Pilotta, B Pivetta, M Pollazzon, A Pontecorvi, P Porcelli, G B Pozzan, G Pozzobon, G Radetti, P Razzore, L Rocchetti, R Roncoroni, G Rossi, E Sala, A Salvatoni, F Salvini, A Secco, M Segni, R Selice, P Sgaramella, F Sileo, A A Sinisi, F Sirchia, A Spada, A Tresoldi, R Vigneri, G Weber, S Zucchini, Bonomi, Marco, Vezzoli, Valeria, Krausz, Csilla, Guizzardi, Fabiana, Vezzani, Silvia, Simoni, Manuela, Bassi, Ivan, Duminuco, Paolo, Di Iorgi, Natascia, Giavoli, Claudia, Pizzocaro, Alessandro, Russo, Gianni, Moro, Mirella, Fatti, Letizia, Ferlin, Alberto, Mazzanti, Laura, Zatelli Maria, Chiara, Cannavò, Salvo, Isidori Andrea, M., Pincelli Angela, Ida, Prodam, Flavia, Mancini, Antonio, Limone, Paolo, Tanda Maria, Laura, Gaudino, Rossella, Salerno, Mariacarolina, Francesca, Pregnolato, Maghnie, Mohamad, Maggi, Mario, Persani, Luca, Italian Network on Central, Hypogonadism., Zatelli, Maria Chiara, Cannavã², Salvo, Isidori, Andrea M., Pincelli, Angela Ida, Tanda, Maria Laura, Aimaretti, G., Altobell, M., Ambrosio, M. R., Andrioli, M., Angelett, G., Arecco, F., Arnald, G., Arosio, M., Balsamo, A., Baldassarr, M., Bartalena, L., Bazzon, N., Beccari, L., Beck-Peccoz, P., Bellastella, G., Bellizz, M., Benedicent, F., Bernasconi, S., Bizzarri, C., Bona, G., Bonadonna, S., Borrett, G., Boschetti, M., Brunani, A., Brunelli, V., Buz, F., Cacciatore, C., Cangiano, B., Cappa, M., Casalone, R., Cassio, A., Cavarzere, P., Cherubini, V., Ciampani, T., Cicognan, D., Cignarell, A., Cisternin, M., Colombo, P., Corbetta, S., Corciul, N., Corona, G., Cozzi, R., Crivellaro, C., Dalle Mule, I., Danesi, L., Eli, A. V. D., Degli Uberti, E., De Leo, S., Della Valle, E., De Marchi, M., Di Iorgi, N., Di Mambr, A., Fabbri, A., Foresta, C., Forti, G., Franceschi, A. R., Garolla, A., Ghezzi, M., Giacomozzi, C., Giusti, M., Grosso, E., Guabello, G., Guarneri, M. P., Grugni, G., Isidori, A. M., Lanfranco, F., Lania, A., Lanzi, R., Larizza, L., Lenzi, A., Loche, S., Loli, P., Lombardi, V., Maggi, M. C., Mandrile, G., Manieri, C., Mantovani, G., Marelli, S., Marzullo, M., Mencarelli, M. A., Migone, N., Motta, G., Neri, G., Padov, G., Parenti, G., Pasquino, B., Pia, A., Piantanida, E., Pignatti, E., Pilotta, A., Pivett, B., Pollazzon, M., Pontecorvi, A., Porcelli, P., Pozza, G. B., Pozzobon, G., Radetti, G., Razzore, P., Rocchett, L., Roncoron, R., Rossi, G., Sala, E., Salvatoni, A., Salvini, F., Secc, A., Segni, M., Selice, R., Sgaramella, P., Sileo, F., Sinisi, A. A., Sirchia, F., Spada, A., Tresoldi, A., Vigneri, R., Weber, G., Zucchini, S., Marco Bonomi, Valeria Vezzoli, Csilla Krausz, Fabiana Guizzardi, Silvia Vezzani, Manuela Simoni, Ivan Bassi, Paolo Duminuco, Natascia Di Iorgi, Claudia Giavoli, Alessandro Pizzocaro, Gianni Russo, Mirella Moro, Letizia Fatti, Alberto Ferlin, Laura Mazzanti, Maria Chiara Zatelli, Salvo Cannavò, Andrea M Isidori, Angela Ida Pincelli, Flavia Prodam, Antonio Mancini, Paolo Limone, Maria Laura Tanda, Rossella Gaudino, Mariacarolina Salerno, Pregnolato Francesca, Mohamad Maghnie, Mario Maggi, Luca Persani, Italian Network on Central Hypogonadism […, A. Cassio, …, S. Zucchini, ], Isidori, Andrea M, Weber, Giovanna, and Italian Network on Central, Hypogonadism

Subjects
0301 basic medicine, Male, Pediatrics, Synkinesis, Kallmann syndrome, diagnosis, genotype, Endocrinology, Diabetes and Metabolism, Gonadal Steroid Hormone, Cohort Studies, Olfaction Disorders, 0302 clinical medicine, Endocrinology, Olfaction Disorder, Young adult, Age of Onset, Gonadal Steroid Hormones, Gonadotropin, Pituitary Hormone, Isolated hypogonadotropic hypogonadism, General Medicine, isolated hypogonadotropic hypogonadism, pubertal delay, genetic-basis, gonadotropin-deficiency, Diabetes and Metabolism, Phenotype, Italy, Cohort, Female, complex, Cohort study, Human, Adult, medicine.medical_specialty, Adolescent, Gonadotropins, Humans, Hypogonadism, Obesity, Overweight, Pituitary Hormones, Young Adult, 030209 endocrinology & metabolism, NO, 03 medical and health sciences, Hypogonadotropic hypogonadism, Adolescent, Adult, Age of Onset, Cohort Studies, Female, Gonadal Steroid Hormones, Gonadotropins, Humans, Hypogonadis, Italy, Male, Obesity, Olfaction Disorders, Overweight, Phenotype, Pituitary Hormones, Synkinesis, Young Adult, Endocrinology, Diabetes and Metabolism, Endocrinology, Internal medicine, medicine, Isolated hypogonadotropic hypogonadism, Kallmann syndrome, Observational cohort study, gnrh deficiency, disease, business.industry, Settore MED/13 - ENDOCRINOLOGIA, isolated Hypogonadotropic hypogonadism, kallmann syndrome, medicine.disease, body regions, 030104 developmental biology, Sex steroid, linked kallmann-syndrome, heterogeneity, phenotype, Observational cohort study, Synkinesi, Age of onset, Cohort Studie, business
Abstract

Objective Isolated hypogonadotropic hypogonadism (IHH) is a rare disorder with pubertal delay, normal (normoosmic-IHH, nIHH) or defective sense of smell (Kallmann syndrome, KS). Other reproductive and non-reproductive anomalies might be present although information on their frequency are scanty, particularly according to the age of presentation. Design Observational cohort study carried out between January 2008 and June 2016 within a national network of academic or general hospitals. Methods We performed a detailed phenotyping of 503 IHH patients with: (1) manifestations of hypogonadism with low sex steroid hormone and low/normal gonadotropins; (2) absence of expansive hypothalamic/pituitary lesions or multiple pituitary hormone defects. Cohort was divided on IHH onset (PPO, pre-pubertal onset or AO, adult onset) and olfactory function: PPO-nIHH (n = 275), KS (n = 184), AO-nIHH (n = 36) and AO-doIHH (AO-IHH with defective olfaction, n = 8). Results 90% of patients were classified as PPO and 10% as AO. Typical midline and olfactory defects, bimanual synkinesis and familiarity for pubertal delay were also found among the AO-IHH. Mean age at diagnosis was significantly earlier and more frequently associated with congenital hypogonadism stigmata in patients with Kallmann’s syndrome (KS). Synkinesis, renal and male genital tract anomalies were enriched in KS. Overweight/obesity are significantly associated with AO-IHH rather than PPO-IHH. Conclusions Patients with KS are more prone to develop a severe and complex phenotype than nIHH. The presence of typical extra-gonadal defects and familiarity for PPO-IHH among the AO-IHH patients indicates a common predisposition with variable clinical expression. Overall, these findings improve the understanding of IHH and may have a positive impact on the management of patients and their families.

Published
2018

4. Alterations of Ballistic Movements in Epileptic Patients with Phenytoin Intoxication

Author

M. A. Mencarelli, Gaetano Zaccara, S. Bandinelli, Francesco Benvenuti, Tito Pantaleo, M. L. Lunardelli, and R. Campostrini

Subjects
Adult, Male, medicine.medical_specialty, Electrodiagnosis, Basal Ganglia, Phenytoin intoxication, Basal Ganglia Diseases, Cerebellar Diseases, Cerebellum, Reaction Time, medicine, Humans, Gynecology, Epilepsy, Movement Disorders, medicine.diagnostic_test, Electromyography, business.industry, Middle Aged, Neurology, Phenytoin, Arm, Female, Neurology (clinical), Drug Overdose, business
Abstract

Summary: We assessed the effects of phenytoin (PHT) overdosage on ballistic arm abduction movements in nine epileptic patients receiving long-term PHT treatment. During the overdosage period, all but one showed clinical abnormalities referable to impaired cerebellar function; one also had slowness of movement. Ballistic movements showed abnormalities in all of the patients although a great variability was present in the type and severity of abnormalities. In four patients, kinematic and EMG recordings differed least from the normal, in four they resembled those described in patients with cerebellar deficits, and in one those described in patients with Parkinson disease. The type and severity of clinical disturbances of voluntary motor control as well as alterations of ballistic movements were not related to specific PHT plasma concentrations. One month after the adjustment of PHT dosage, the patients who had clinical abnormalities completely recovered or markedly improved. Previously observed kinematic and EMG abnormalities completely disappeared or improved markedly. RESUME Nous avons evalue les effets du surdosage de la diphenylhydantoine (PHT) sur les mouvements balistiques d'abduction du bras chez neuf patients epileptiques sous traitement au long cours avec PHT. Pendant la periode de surdosage tous les patients sauf un ont montre anomalies cliniques a mettre sur le compte de function cerebelleuse compromise; un patient avait ralentissement moteur. Les mouvements balistiques etaient alteres chez tous les patients mais on a observe une grande variabilite dans le type et dans la severite des anomalies. Chez quatre patients les enregistrements cinematiques et electromyographiques n'etaient pas tres differents de ceux des normaux; chez quatre ils ressemblaient a ceux decrits chez des patients avec des deficits cerebelleux; chez un autre patient les enregistrements ressemblaient a ceux decrits dans la maladie de Parkinson. Le type et la severite des anomalies cliniques du controle du mouvement volontaire et les alterations des mouvements balistiques n'etaient pas en rapport avec une concentration plasmatique specifique de la PHT. Un mois apres l'ajustement du dosage de la PHT, les patients qui avaient des anomalies cliniques ont completement recupere ou ils etaient tres ameliore. Les anomalies cinematiques et electromyographiques observees pendant la periode de surdosage ont disparu conpletement ou elles one ete tres ameliores. RESUMEN Hemos estudiado 10s efectos de la sobredosis de difenilhidantoina (PHT) en nueve pacientes epilepticos que eran sometidos a tratamiento cronico con este farmaco. Durante todo el periodo de la sobredosis, todos los pacientes excepto uno presentaron sintomas de leves o graves alteraciones de la funcion del cerebelo. Uno de ellos presento enlencimiento motorio. Los movimientos balisticos mostraban alteraciones en todos los pacientes si bien bas alteraciones eran diversas en tipo y gravedad. Las variables cinematicas y EMG se presentaron en cuatro pacientes con diferencias minimas en relacion a individuos normales. Cuatro pacientes presentaron alteraciones similares a las descritas en pacientes con enfermedad del cerebelo y un paciente tenia alteraciones parecidas a quellas observadas en pacientes con enfermedad de Parkinson. El tipo y gravedad de los disturbios del control del movimiento voluntario asi como las alteraciones de los movimientos balisticos no estaban relacionados con las concentraciones plasmaticas de la PHT. Despues de un mes de haber reducido el dosaje de PHT, en los pacientes se observo un notable mejoramiento o completa desaparicion de los sintomas. Paralelamente, las alteraciones cinematicas y EMG de los movimientos balisticos desaparecieron o mejoraron notablemente. ZUSAMMENFASSUNG Wir haben die Auswirkungen der uberdosierung von Difenylidantoin (PHT) in epileptischen Patienten, die mit diesem Pharmakurn auf lange Zeit behandelt wurden, untersucht. Wahrend der Zeit der uberdosierung zeigten alle Patienten, bis auf einen, eine Symptomatik, die auf veranderte cerebellare Funktion zuruckzufuhren ist; bei einem Patienten wurde auch eine motorische Verlangsamung festgestellt. Die ballistischen Bewegungen waren, trotz der groβen Unterschiede der Art und der Schwere der Veranderungen, in allen Patienten abnormal. Die kinetischen Aufzeichnungen und das EMG zeigten bei vier Patienten minimale Unterschiede im Vergleich zu normalen Patienten, bei weiteren vier Veranderungen, wie sie bei Patienten mit cerebellaren Storungen beschrieben werden und bei einem Veranderungen, wie man sie bei Patienten mit Parkinson'scher Krankheit beobachtet. Art un Schweregrad der Storungen der willkurlichen motorichen Kontrolle wie auch die Veranderungen der ballistichen Bewegungen waren nicht an eine spezifische Plasmakonzentration des PHT gebunden. Einen Monat nach der Verringerung der Dosis von PHT konnte bei den Patienten ein volliges Verschwinden oder eine beachtliche Besserung der Symptomatik festgestellt werden. Die kinematischen Veranderungen und die Abnormalitaten des EMG waren vollig verschwunden oder weitgehend verbessert.

Published
1992
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5. Effects of expected perturbations on the velocity control of fast arm abduction movements

Author

Alberto Baroni, S. Bandinelli, Francesco Benvenuti, Tito Pantaleo, and M. A. Mencarelli

Subjects
Agonist, Adult, Male, medicine.medical_specialty, medicine.diagnostic_test, medicine.drug_class, Electromyography, Movement, Body movement, Kinematics, Motor Activity, Surgery, Biomechanical Phenomena, Amplitude, Developmental Neuroscience, Neurology, Duration (music), medicine, Arm, Muscular force, Humans, Female, Psychology, Neuroscience
Abstract

A triphasic electromyographic pattern of sequential activation of agonist, antagonist, and again agonist muscles underlies rapid or ballistic limb movements in humans. The first agonist burst reflects muscular force accelerating the limb, the antagonist burst is mainly related to the braking process of movement, while the second agonist burst is considered a reactive adjustment to the deceleration. The duration of the first agonist burst has been reported to be constant for movements of different amplitudes, thus suggesting that only changes in its amplitude contribute to the velocity control of movement. The present research has been undertaken to investigate the strategy whereby the nervous system increases agonist impulsive force for ballistic performance in response to experimental conditions requiring perceptual and/or previsional processes related to expected changes in load or accuracy constraints. The effects of expected perturbations of different strengths on some kinematic and electromyographic variables of fast arm abduction movements performed in a step-tracking task and in an outer-stop terminated task were analyzed in normal subjects. All motor performances were characterized by triphasic electromyographic patterns. In the absence of expected perturbations, the mean velocity of the movements was markedly higher in the outer-stop terminated task. Correspondingly, greater amplitudes and durations of the first agonist burst were observed. In both types of motor tasks, when expected perturbations were inserted, the velocity of the movement increased as well as the amplitude and the duration of the first agonist burst. These results, in aggrement with previous observations, indicate that the normal mechanism, whereby the nervous system increases agonist impulsive force in rapid movements, comprises changes not only in the amplitude but also in the duration of the first agonist burst.

Published
1988

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