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Usher syndrome

Usher syndrome is a genetic disease causing deaf-blindness. It is essentially progressive retinitis pigmentosa combined with congenital hearing impairment. It is almost always inherited in an autosomal recessive pattern and is estimated to occur in 1 in 10,000 people. Whilst this is a rare genetic condition, it represents the major cause of syndromic deafness with blindness. The condition gets its name from British ophthalmologist, C.H. Usher, who in 1914 wrote a paper describing several cases in which the link between congenital deafness and retinitis pigmentosa was stressed. more...

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Usher syndrome

Usher syndrome is divided into three types, I, II and III. Children with type I syndrome are born profoundly deaf, and eyesight usually begins degrading after the first decade of life, beginning with night-blindness. If identified at a young age, children usually receive a cochlear implant, and generally learn spoken language. Sign language is also sometimes used, though when vision loss becomes severe one must revert to tactile signing. Problems with balance are usually present, due to the failure of the hair cells of the inner ear. Type II children are hard-of-hearing, and changes in sight usually begin later, first becoming noticeable after the second decade of life. In the type III syndrome, hearing loss as well as retinitis pigmentosa can occur later in life.

Usher syndrome I

Worldwide, the estimated prevalence of Usher syndrome type I is 3 to 6 per 100,000 people in the general population.

Mutations in the CDH23, MYO7A, PCDH15, Usher 1C (also known as Harmonin), and USH1G (now identified as SANS) genes cause Usher syndrome type I. Usher syndrome type I can be caused by mutations in one of several different genes. These genes function in the development and maintenance of inner ear structures such as hair cells (stereocilia), which transmit sound and motion signals to the brain. Alterations in these genes can cause an inability to maintain balance (vestibular dysfunction) and hearing loss. The genes also play a role in the development and stability of the retina by influencing the structure and function of both the rod photoreceptor cells and supporting cells called the retinal pigmented epithelium. Mutations that affect the normal function of these genes can result in retinitis pigmentosa and vision loss.

Usher syndrome II

Usher syndrome type II occurs at least as frequently as type I, because type II may be underdiagnosed or more difficult to detect, it could be up to three times as common as type I.

Mutations in the MASS1 (also called VLGR1) and USH2A genes cause Usher syndrome type II. Usher syndrome type II may be caused by mutations in any of three different genes, two of which have been identified to date. These genes are called USH2A and MASS1. Usherin, the protein made by the USH2A gene, is located in supportive tissue in the inner ear and retina. Usherin is critical for the proper development and maintenance of these structures, which may help explain its role in hearing and vision loss. The precise function of the protein made by the MASS1 gene is not yet known.

Usher syndrome III

The frequency of Usher syndrome type III is highest in the Finnish population, but it has been noted rarely in a few other ethnic groups.


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A serendipitous traveler in Rome
From International Travel News, 7/1/03 by Pat Mitchell

Forget that it may take an eternity to plumb the depths of Rome. My husband, Paul, and I now live with chronic "next time" syndrome.; On earlier trips we had failed to investigate some places. Our trip in early 2001 was an excursion to fill in some blanks.

Piazza Sforza Cesarini

Little was changed in Piazza Sforza Cesarini, where we had again rented an apartment. The bronze sculpture of Nicola Spedalieri, philosopher and writer, still ruled its domain, bordered by Palazzo Sforza Cesarini, a snack bar, two restaurants, a upholstery shop and a jewelry shop.

This small square on a popular. tourist path has historic significance reaching back at least as far as the Roman altar dedicated to Dis and his wife, Proserpina, time-interred beneath the palazzo. This was the Renaissance center of Rome. During the 15th century, the building that today houses the Trattoria Polese was the home, of Vannozza Cattanei -- mistress of Rodrigo Borgia (Pope Alexander VI) -- and her daughter; Lucrezia Borgia.

Our rental apartment on the inside corner of the piazza was in what was once the Hospice of the Bohemians, founded in 1338. From there it was a short walk to the Castel Sant' Angelo, originally constructed as Hadrian's mausoleum.

On Sunday mornings streams of visitors walked down the street and across the Tevere (Tiber) River to connect with Via della Conciliazione and St. Peter's Basilica.

Area attractions

Today's piazza is a source of sustenance and offers rest for tired feet. Once refreshed, visitors will find the Piazza Navona nearby, and beyond that is the museum at Palazzo Altemps. In other directions are Campo de' Fiori, the Pantheon and Santa Maria sopra Minerva fronted by a statue of an elephant bearing an obelisk on his ample back.

Within our neighborhood we visited examples of Baroque art missed on earlier trips. The churches of Sant' Ignazio and Gesu, impressive enough in their architecture, were overwhelming with their illusionistic ceilings. Body parts appeared to dangle as the chosen levitated heavenward and the damned plunged to nether regions. Even more' delightful was Borromini's church of Sant'Ivo with its dizzying cupola.

From Sant'Ivo it was not far to Piazza delle Cinque Lune and Ai Monasteri. In rooms evocative of their origin was an array of products made in the ancient monastic tradition. Cosmetics, elixirs of long life, youth and dell'amor (of love) as well as liqueurs made from ancient recipes were almost as tempting as the sweets, like the hazelnut tartufa (truffles) that we devoured. When I left, a good portion of Ai Monasteri filled my shopping bag.

Church of Sant'Eustachio

From Ai Monasteri I continued to the Pantheon before revisiting the church of Sant'Eustachio, a structure of mixed vintage facing onto a piazza of the same name.

While spooning refreshing coffee granita served at Caffe Sant'Eustachio, I puzzled over the church's facade. Crowning it was a stag's head, its horns embracing a crucifix. An Italian lady explained the symbolism: Eustachio was the commander-in-chief of Trajan's armies. While hunting one day, he was confronted by Christ in the form of a stag. Eustachio promptly converted to Christianity, which displeased Trajan and ultimately led to the saint's demise as well as that of his family.

Exploring the streets of Rome

A book by Georgina Masson ("The Companion Guide to Rome") provides absorbing details about Rome's tiny neighborhood streets, including Via del Cappellari (street of the hat makers), Via del Pellegrino (of the pilgrim), Via dei Banchi Vecchi (old banks) and Vicolo del Bollo, a short connection between Pellegrino and Cappellari which takes its name from the word bollo, signifying the hallmark of goldsmiths and silversmiths.

Under an arch on Via Cappellari I noticed a plaque dated 1682 identifying the house where the poet and librettist Metastasio was born. Small furniture and restorers' shops spilled wares onto the ragged surface of the street while ferns, geraniums and laundry dripped from the windows above.

Cappellari joins Via Pellegrino, which later meets Banchi Vecchi at an undisciplined intersection with Via Monseratto and Via Giulia. Sculptor Benvenuto Cellini murdered one of his enemies at a pharmacy in the area' and made his escape through the same warren of streets that also served the Resistance during World War II.

From behind the Palazzo Sforza Cesarini, originally the residence of Cardinal Rodrigo Borgia, on Banchi Vecchi, I walked through Vicolo Sugareili to Via Giulia where, thanks to Masson's book, I was able to identify' a house believed to have been that of Raphael. Masson also solved the riddle of the marble blocks That look a bit like benches located at the base of one of the nearby buildings -- they are the remains of an uncompleted structure begun by Bramante for Pope Julius II and are now referred to as "sofas of Via Giulia."

Off Via Giulia on Via Sant'Eligio is the 'small church of Sant'Eligio. degli Orefici, designed by Raphael. After Sunday Mass it was open for a tour of the tiny cloister and the adjoining classrooms of a school for goldsmiths.

Continuing almost to the end of Via Giulia, an arch spans the street from the rear of Palazzo Farnese. It Was designed by Michelangelo to connect with the Villa Farnesina, across the river, where Raphael's "Triumph of Galatea" adorns one of the galleries, but the connection was never completed.

Close by, the 'church of Santa Maria dell'Orazione e Morte was open. Its Baroque interior gave no clue to the grim crypt beneath. Strains of "Danse Macabre" rattled through my brain as I viewed the ossuary of crucifixes and chandeliers fashioned of skulls and other bones.

The Palazzo Massimo

I walked up Via del Mascherone and through Piazza Farnese and Campo de' Fiori to Corso Vittorio Emanuele II. On my left was the Museo Barracco, where years before we had visited an interesting collection and the remains of a Roman house beneath. Located diagonally across, from the museum was what had long seemed to me the architectural "gray lady" of Corso Emanuele, the Palazzo Massimo alla Colonne:

Designed by Baldassare Peruzzi, it is a private residence -- unlike the Palazzo Massimo near the Termini, which is now a museum. Thanks to Masson's book, I learned that the pa1azzo is open to the public on March 16 each year when, in memory of the miracle that S. Filippo Ned performed there on that day in 1583, Masses are held all day.

Fortunately, I arrived early. Men in brilliant, well-worn, red-and-gold Renaissance livery stood at the' entrance to usher visiting dignitaries through the crowd. Beyond the columned facade, statues guarded the portal leading to a hail, courtyard and fountain. After climbing three floors on the grand stone staircase, I walked through a series of richly decorated small rooms leading, to a chapel.

Altars were centered on each of three walls covered in red damask. Golden reliquaries hung from them above a rainbow of snapdragons. Vestments shimmered with gold. The missal was an ancient manuscript held by a server.

Remnants of mosaics

Later in the week, my husband found notice of a tour to be held at the house and gardens of the Roman historian Sallust near Via Settembre and Via Piave. We arrived at a fence surrounding an ancient excavation off Via Collina.

At the entrance was a locked iron gate and behind it a steep walkway leading through a wisteria-lined pit to Roman ruins. We felt like interlopers among the Roman aesthetes waiting there, but they welcomed us and even translated some of the Italian lecture.

When the gate was opened, we made our way into the pit and lecture hall -- a retrofitted, vast, domed room with the barest hint of the glittering mosaics that had once decorated the domus. This, with a few satellite rooms, was all that remained of what had been the residence of such notables as Sallust and Julius Caesar.

According to our guide, it was from this pit that several sculptures of the Ludovisi Collection, including the Ludovisi sarcophagus and "Dying Gaul," were excavated -- all of which are now on view in the Palazzo Altemps.

Moving on

At the end of March we made one last foray into caverns beneath Rome to find the Hertz Rent A Car office. The street address was useless, and we became much too familiar with the area's surface features before we learned we would have to burrow, once more, from the top of Via Veneto.

Having completed our "in-depth" study of Rome, we set out for our final destination; driving through sunny Sorrento, Paestum, Capri, Arezzo and Siena before finally reaching our rental apartment in Florence.

RELATED ARTICLE: Planning a trip to Rome?

The following information may help you prepare.

Ai Monasteri (No. 72 Corso rinascimento, which runs from the church of Sant' Andrea della Valle on corso Vittorio emanuele II to P. Cinque Lune) -- if you can't go in person, check out this shop's products at their website,

Italiaidea (Via dei due Macelli, 47; fax [39] 06-692 02 174, e-mail or visit offers classes in Italian plus field trips. Paul's class was invited to attend to showing of the restored "Mama Roma" starring Anna Magnani.

"The Companion Guide to Rome," by Georgina Masson is available at for $24.95. (It can be found as a "special order title"; a new edition will be released in December '03.) I broke my copy into sections to carry with me on the tours I took while Paul was in class.

We also liked the pocket-sized "City Secrets Rome," part of a series edited by Robert Kahn and published by The Little Bookroom (New York.) It is a good read, even if you are not going to Rome. At $13.96, it too is available at


In Rome, outside chairs and tables are filled at the first hint of sun. The Piazza Cesarini is no exception; it is a favorite with local families for Sunday meals.

Our meals never approached the size of a traditional multicourse Italian pranzo; usually, we had bread, salad, main course and dessert plus water or wine. We liked the following restaurants:

Trattoria Polese (No. 40, at the back of Piazza Sforza Cesarini) has an outstanding table of antipasti. They also serve the traditional Roman supper: salad and pizza on a crisp, thin crust. (Pizza at lunch is not traditional.) With bread and dessert plus water or wine, we usually spent about $35-$40 for two.

Da Luigi (No. 23-24, next to the Bar) is a typical community restaurant serving good antipasti and meals. With bread, dessert and water or wine, meals cost $25-$30. The Bar serves excellent tramezzini (diagnally sliced sandwiches), and their ice cream concoctions (about $3) are worth any price.

Ristorante Pier Luigi (off Via Pellegrini at Piazza de' Ricci, 144; phone 06/68.61.302 or 06/68.68.717) is popular with visitors and locals. Reservations are recommended. $55-$60.

La Carbonara in the Campo de' Fiori is very popular and serves excellent food. I am partial to their Saltimbocca alla Romana. $45-$50.

Hostaria la Piccola Roma (No. 36 Via Uffici del Vicario) -- we stumbled onto this one two years previously. The food is excellent, the decor attractive and the ambiance delightful; rushing waiters burst into song just because they feel like it. Located near the Camera, it is popular with locals for the midday meal. Antipasti are unmatched, and macedonia di frutta (sectioned fresh fruit in its juices) served from a bowl made of ice on a hot day is supremely refreshing. $30-$35.


Because my return flight was from Rome, I took the opportunity to stay at Casa di Santa Brigida in the Piazza Farnese for a few nights before moving to a hotel in Fiumicino on my last night.

Casa di Santa Brigida (phone 0039-06-688-92-596, fax 0039-06-688-91-573 or e-mail is the motherhouse of the Bridgettine Order of nuns and the convent of its founder, St. Bridget. Facing the piazza is the entrance to a beautiful small chapel. Around the corner, at Via Monserrato, 54, is the entrance to the convent hostelry. In St. Bridget's apartment is Bernini's sculpture of "St. Bridget in Ecstasy."

Apartments are clean and well furnished and there is an elevator. The dining room serves three excellent meals a day. The current rate for a single room is [euro]95 including breakfast, with half board [euro]110 and full board [euro]120.

Hotel Riviera (Via Licio Visintini, 30-32, Fiumicino; phone [39-6] 658-0302 or e-mail -- clean and basic, with an elevator. The current rate is [euro]68 single or [euro]93 double including breakfast. A short can ride to the airport cost $12.

The hotel is located two blocks from a pretty beach and Lo Scoglio restaurant, where I enjoyed excellent pizza ($5). The grilled scampi were good too.

COPYRIGHT 2003 Martin Publications, Inc.
COPYRIGHT 2003 Gale Group

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