Partial monosomy 11q. A new case]

Partial monosomy 11q due to a de novo 11q231 leads to 11qter deletion was detected in a patient who died at seven days of age with most malformations characteristic of monosomy 11q, including trigonocephaly, facial dysmorphia, and congenital heart disease. In this as in most previously reported cases, the break point was at 11q231.     

A new structural alternative in benzo[b]furans for antimicrobial activity

Two series of 2-substituted and three new diacetyl benzofurans were synthesized through palladium-catalyzed reactions and their in vitro antimicrobial spectra were assessed. The compounds demonstrated mild to significant growth inhibition against antibiotic-susceptible standard and clinically isolated strains of Gram-positive and Gram-negative bacteria as well as human fungal pathogens. Ampicillin and kanamycin were used as references for antibacterial screening; nystatin and amphotericin B were used for antifungal screening. Varying substitution at the benzofuran moiety and subsequent antimicrobial screening identified the C-3-acetyl functionality as a new structural alternative for optimal antimicrobial property in the benzofuran class of compounds.     

A new case of a syndrome including marfanoid phenotype and craniostenosis]

A new case of the syndrome with craniosynostosis and Marfanoid features is reported. The data presented and the analysis of relevant literature are suggestive of a community of the Marfanoid features with clinical and genetic heterogeneity. The possibility to delineate the Marfanoid syndrome with craniosynostosis as a nosologic unit and its etiology are discussed.     

A new anti-tubulin agent containing the benzo[b]thiophene ring system.

A new type of inhibitor of tubulin polymerization was discovered based on the 3-aroyl-2-arylbenzo[b]thiophene molecular skeleton. The lead compound in this series, 2-(4'-methoxyphenyl)-3-(3',4',5'-trimethoxybenzoyl)-6-methoxybe nzo[b]thiophene 1, inhibited tubulin polymerization, caused an increase in the mitotic index of CA46 Burkitt lymphoma cells, and inhibited the growth of several human cancer cell lines.     

A further case of Tn-polyagglutination]

Another case of Tn-polyagglutination is described where for 6 years those responses have been observed which are typical of the acquired erythrocyte changes, viz. mixed-field polyagglutination by normal adult sera of all blood groups, no response with anti-TAh, agglutination of a certain part of erythrocytes by anti-TnSs, anti-ADb, anti-AHP, agglomeration of the other part by protamin sulfate and A-like specificity. Papain treatment eliminates polyagglutination by human sera of adults. Sera of new-borns did not agglutinate Tn-erythrocytes. Mrs. B. B. 38 years old belongs to blood group 0 and shows latent signs of haemolysis as well as permanently lowered leukocyte and thrombocyte numbers. The difficulties in blood group serology in connection with polyagglutination are referred too.     

Characteristics of a new species of budding purple bacteria containing bacteriochlorophyll b]

A culture of phototrophic purple bacteria containing bacteriochlorophyll b has been isolated. The bacterium forms a sessile bud and, along with producing motile swarmer cells, it produces immobile oval cells surrounded with a slime capsule. It grows on media with simple organic substances in the presence of yeast extract or vitamins, under anaerobic conditions in the light or under microaerophilic conditions in the darkness. Besides organic substances, the culture assimilates hydrogen sulphide and thiosulphate as electron donors; it is incapable of assimilative sulphate reduction. In the light, the bacterium oxidizes thiosulphate to sulphates, without accumulation of molecular sulphur. The bacterium is classed as a new species of the genus Rhodopseudomonas--Rhodopseudomonas sulfoviridis nov. sp.     

A new case of familial hyperproinsulinemia

We reported a case with increased serum immunoreactive insulin (IRI) and C-peptide immunoreactivity (CPR). The molar ratio of IRI to CPR was also increased. The propositus was diabetic with background retinopathy and neuropathy. No antibody to insulin or insulin receptor was detected in his serum and his insulin resistance was not so remarkable. When the serum was fractionated by gel filtration, about 90% of total IRI was recovered in the fraction where biosynthetic human proinsulin was eluted. The major part of the CPR was also recovered in the same fraction as proinsulin-like material. His daughter, 28 years old, a non-obese female, also had high IRI, CPR and a high molar ratio of IRI to CPR. A gel filtration study demonstrated the same elution profile as the propositus. Tryptic digestion failed to convert the proinsulin-like material from the propositus to insulin in a sufficient quantity to convert human proinsulin to insulin. These data strongly suggest that this family is a new case of familial hyperproinsulinemia, and the defect resides in the proinsulin molecule, not in the converting enzymes.     

A new case of Martsolf syndrome

Martsolf syndrome is an autosomal recessive syndrome characterized by microcephaly, mental retardation, cataract, hypogonadism and short stature. A seven-year-old boy was admitted to the hospital with growth retardation and difficulties in walking. His parents were first cousins. Bilateral lens extraction was performed during infancy because of congenital cataract. On physical examination he had short stature, microcephaly, micropthalmia, hypogonadism, mental retardation. Brain magnetic resonance imaging revealed alterations in the white matter. Up to date very few cases with this syndrome have been reported. This is the first case described in the Turkish population and may add valuable information to the literature.     

A new case of DOOR syndrome

We present the case of a 9-year-old boy with DOOR syndrome recognized in the first year of his life because of a delayed development of speech. The diagnosis was based on characteristic abnormalities, including congenital deafness, nail and bone abnormalities, and mild mental retardation.     

A new class of cardiotonic steroids]

A series of 23-oxosteroid derivatives have been synthesized and tested for their inhibiting Na+, K(+)-dependent ATPase from rat brain in the 1 x 10(-6)-1 x 10(-4) M concentrations. Natural 23-oxogenins from sea star Asterias amurensis and synthetic monoesters showed the inhibiting activity upto 50-55%. These compounds caused heart contraction in frogs at the level of the known cardiotonic strophanthin G, and inotropic activity on isolated heart of mollusk Spisula sachalinensis.     

A new case of trisomy in cattle

The new type of trisomy (2n = 61, XX, +19) was found in the heifer with prognathia inferior syndrome. Correlations between trisomy of different types and phenotypic abnormalities are discussed.     

A new case of rhinosporidiosis in Chile

BackgroundRhinosporidiosis is a chronic, granulomatous, and non-contagious infection, in which highly vascularized polyps (mainly present in the nasal cavity) appear. These polyps usually bleed easily.AimsTo present the case of a 14 year-old male suffering from an obstruction and injury of the right nostril due to a polypoid shaped-lesion with a raspberry-like appearance.MethodsA wide surgery resection of the base of the lesion was performed, as well as a standard histopathology procedure, including microscopic analysis with haematoxylin-eosin and Grocott staining.Results and conclusionsThe histopathology report indicated that the chronic inflammatory polyp was compatible with rhinosporidiosis.     

A new case of pericentric inversion 20

A prenatal diagnosis from a chorionic villi biopsy revealed a pericentric inversion of chromosome 20. The child's father also carries the inverted chromosome. The breakpoints p13q11.2 differ for 4 of the 5 published cases of inversion 20.