Hyperferritinemia -cataract syndrome: Long-term ophthalmic observations in an Italian family

Background Hyperferritinemia-cataract syndrome (HCS) is a rare Mendelian condition characterized by bilateral cataract and high levels of serum ferritin in the absence of iron overload. Methods HCS was diagnosed in three adult siblings. In two of them it was possible to assess lens changes initially in 1995 and again in 2013. Serum ferritin, iron, transferrin concentrations and transferrin saturation percentage were also measured, and the Iron Responsive Element (IRE) region of the L-ferritin gene (FTL) was studied. Results Serum ferritin concentrations were considerably elevated while serum iron, transferrin and transferrin saturation levels were within the normal range in each sibling. Cataract changes in our patients were consistent with those previously reported in the literature. Progression of the cataract, an aspect of few studies in this syndrome, appeared to be quite limited in extent. The heterozygous +32G to T (-168G>T) substitution in the IRE of the FTL gene was detected in this family. Conclusions Ophthalmic and biochemical studies together with genetic testing confirmed HCS in three family members. Although the disorder has been extensively described in recent years, little is known regarding cataract evolution over time. In our cases, lens evaluations encompassed many years, identified bilateral cataract of typical morphology and supported the hypothesis that this unique clinical feature of the disease tends to be slowly progressive in nature, at least in adults.

Schoolman family papers, undated, 1889-1994

The Schoolman Papers reflect Dr. Albert P. and Mrs. Bertha Schoolmans' staunch dedication to Jewish education, Jewish causes, and Israel. Bertha Schoolman, a lifelong member of Hadassah, assisted thousands of Israeli youth as chairman of the Youth Aliyah Committee. Her diaries, photos, scrapbooks, and correspondence record her numerous visits to Israel on which she helped set up schools, met with Israeli dignitaries, and participated in Zionist Conferences and events. The collection includes a 1936 letter from Hadassah founder, Henrietta Szold, praising Mrs. Schoolman's work as well as a letter from the father of Anne Frank, thanking Mrs. Schoolman for naming a Youth Aliyah center the "Anne Frank Haven" after his later daughter.

Michaelson family papers, undated, 1892-1920, 1943-1944, 1965, 1992, 1994, 1999-2000.

The Michaelson family papers include early family correspondence, documents, and ephemera; genealogical research conducted by Ms. Appleby, Anna’s granddaughter; copies of New York City marriage certificates kept by Louis B. Michaelson, Rabbi, between 1906-1907; and Anna Michaelson’s copies of original birth records that she kept as midwife in the Lower East Side in New York City between 1892-1916.

Robison family papers, 1904-1995.

Robison family papers reflect various activities of Adolf C. and Ann Green Robison in civic organizations, Jewish communal life, Jewish national and international affairs, and individually in the arts. Contains information on the origins of the United Nations and on aid to Israel before, during, and after the War of Independence. The materials include correspondence, memoranda, minutes, reports, financial documents, newspaper clippings, photographs, diaries, scrapbooks, musical scores, and play scripts.

Seixas family papers, undated, 1746-1911, 1926, 1939.

The collection contains items relating to individual members of the family as well as the Seixas family in general. Included are papers of the following persons: Isaac Mendes Seixas (1708/9-1780/1), a copy of A voyage to Hudson's--Bay, by Henry Ellis, inscribed with his name on the title page, along with additional inscriptions on the end papers (1748); and a daily prayer book printed in Amsterdam (title page missing), with an inscription on the first page indicating that the book was owned by Seixas in 1758/9, and subsequently by his grandson, Theodore J. Seixas, in 1816/17.

Elihu Stone collection undated, 1913-1962.

Collection contains materials pertaining to the life and work of Stone.

Rhipicephalus microplus serine protease inhibitor family: annotation, expression and functional characterisation assessment

Background: Rhipicephalus (Boophilus) microplus evades the host's haemostatic system through a complex protein array secreted into tick saliva. Serine protease inhibitors (serpins) conform an important component of saliva which are represented by a large protease inhibitor family in Ixodidae. These secreted and non-secreted inhibitors modulate diverse and essential proteases involved in different physiological processes. Methods: The identification of R. microplus serpin sequences was performed through a web-based bioinformatics environment called Yabi. The database search was conducted on BmiGi V1, BmiGi V2.1, five SSH libraries, Australian tick transcriptome libraries and RmiTR V1 using bioinformatics methods. Semi quantitative PCR was carried out using different adult tissues and tick development stages. The cDNA of four identified R. microplus serpins were cloned and expressed in Pichia pastoris in order to determine biological targets of these serpins utilising protease inhibition assays. Results: A total of four out of twenty-two serpins identified in our analysis are new R. microplus serpins which were named as RmS-19 to RmS-22. The analyses of DNA and predicted amino acid sequences showed high conservation of the R. microplus serpin sequences. The expression data suggested ubiquitous expression of RmS except for RmS-6 and RmS-14 that were expressed only in nymphs and adult female ovaries, respectively. RmS-19, and -20 were expressed in all tissues samples analysed showing their important role in both parasitic and non-parasitic stages of R. microplus development. RmS-21 was not detected in ovaries and RmS-22 was not identified in ovary and nymph samples but were expressed in the rest of the samples analysed. A total of four expressed recombinant serpins showed protease specific inhibition for Chymotrypsin (RmS-1 and RmS-6), Chymotrypsin / Elastase (RmS-3) and Thrombin (RmS-15). Conclusion: This study constitutes an important contribution and improvement to the knowledge about the physiologic role of R. microplus serpins during the host-tick interaction.

Importance of non-conserved distal carboxyl terminal amino acids in two peptidases belonging to the M1 family: Thermoplasma acidophilum Tricorn interacting factor F2 and Escherichia coli Peptidase N

Enzymes belonging to the M1 family play important cellular roles and the key amino acids (aa) in the catalytic domain are conserved. However, C-terminal domain aa are highly variable and demonstrate distinct differences in organization. To address a functional role for the C-terminal domain, progressive deletions were generated in Tricorn interacting factor F2 from Thermoplasma acidophilum (F2) and Peptidase N from Escherichia coli (PepN). Catalytic activity was partially reduced in PepN lacking 4 C-terminal residues (PepNΔC4) whereas it was greatly reduced in F2 lacking 10 C-terminal residues (F2ΔC10) or PepN lacking eleven C-terminal residues (PepNΔC11). Notably, expression of PepNΔC4, but not PepNΔC11, in E. coliΔpepN increased its ability to resist nutritional and high temperature stress, demonstrating physiological significance. Purified C-terminal deleted proteins demonstrated greater sensitivity to trypsin and bound stronger to 8-amino 1-napthalene sulphonic acid (ANS), revealing greater numbers of surface exposed hydrophobic aa. Also, F2 or PepN containing large aa deletions in the C-termini, but not smaller deletions, were present in high amounts in the insoluble fraction of cell extracts probably due to reduced protein solubility. Modeling studies, using the crystal structure of E. coli PepN, demonstrated increase in hydrophobic surface area and change in accessibility of several aa from buried to exposed upon deletion of C-terminal aa. Together, these studies revealed that non-conserved distal C-terminal aa repress the surface exposure of apolar aa, enhance protein solubility, and catalytic activity in two soluble and distinct members of the M1 family.

Industrial Removal Office records undated, 1899-1922

Contains Board of Directors minutes (1903, 1907), Executive Committee minutes (1907), Removal Committee minutes (1903-1917), Annual Reports (1910, 1913), Monthly Reports (1901-1919), Monthly Bulletins (1914-1915), studies of those removed, Bressler's "The Removal Work, Including Galveston," and several papers relating to the IRO and immigration. Financial papers include a budget (1914), comparative per capita cost figures (1909-1922), audits (1915-1918), receipts and expenditures (1918-1922), investment records, bank balances (1907-1922), removal work cash book (1904-1911), office expenses cash account (1903-1906), and the financial records of other agencies working with the IRO (1906). Includes also removal case records of first the Jewish Agricultural Society (1899-1900), and then of the IRO (1901-1922) when it took over its work, family reunion case records (1901-1904), and the follow-up records of persons removed to various cities (1903-1914). Contains also the correspondence of traveling agents' contacts throughout the U.S. from 1905-1914, among them Stanley Bero, Henry P. Goldstein, Philip Seman, and Morris D. Waldman.

Jacobi-Schlossberg family papers, undated, 1870-2000.

The collection documents the lives Sarah Simon Jacobi (1857-1943), Freda Moritz Jacobi (1886-1939), Alice Jacobi Schlossberg (1912-1987) and Deda Schlossberg Miller (1940- ), through diaries, baby books, photographs, and correspondence. Also included in the collection are a silver card case, a silver coffee pot and creamer, and an etching of the Jacobi family home. For further information on these objects see the museum curator.

Rabb Family/Stop & Shop collection, 1912-1989.

The Rabinovitz/Rabb family arrived in Boston from Russia in the 1890s. Around 1914 they founded Economy Grocery Stores, which became Stop & Shop in 1946. In addition to building their grocery company into a successful business, the family is known for its philanthropy and active involvement in the Jewish community. The collection contains materials relating to the Rabb family and to the business operations of Stop & Shop until 1989. The materials in this collection include historical sketches, newspaper clippings, press releases, correspondence, memoranda, minutes, reports, advertisements, certificates, speeches, interviews, films, and photographs.

Israelson Family Collection

Genealogical tables for Israelson and Blum families, and a cover letter.

Strauss-Stern Family 1902-1942

Personal and official documents relating to the life of the Strauss family during the years 1902-1940: pre-marital agreement dated February 1902 and June 1904 (Ehe und Erbvertrag); partnership agreement dated on several dates in 1905; variety of Lehrvertraege, passports, documents necessary for emigration and immigration to Italy and USA. The Lehrvertrag is dated 1920, the other documents pertain to the period from 1938 to 1942. "Schulzeugnisse" from the early 1900s.

Fabian family collection 1827-1875

Three original documents: citizenship certificate and oath for Israel Fabian (June 23, 1827); certificate of family name and Prussian citizenship for Israel Fabian (December 21, 1838); appointment of widow Fabian as quartermaster (September 14, 1875).

Stillschweig Family Collection 1896-1989

Three page letter to Diane Spielman relating to resarch on Samuel Stillschweig and Jewish community in Heide.