Reconstruction of filtering blebs with free conjunctival autografts

BACKGROUND: Situations arise in which the surgical repair or revision of filtering blebs is either technically impossible or inadequate, and total reconstruction becomes necessary. This is most frequently encountered in eyes that have undergone multiple procedures, resulting in significant bulbar conjunctival scarring and episcleral fibrosis. METHODS: To preserve the pre-existing filtration site, the authors successfully treated five such patients in whom conjunctival scarring adjacent to and surrounding the blebs precluded local revision, by transplanting free conjunctival autografts. Two patients required grafting from the fellow eye. Specific modifications from previously reported conjunctival flap techniques were used to enhance graft healing and continued filtration. RESULTS: Satisfactory intraocular pressure control was maintained in all patients receiving minimal to no anti-glaucomatous medications with an average follow-up of 42.6 months (range, 7-90 months). No patient had a significant decrease in visual acuity or surgical complications. CONCLUSION: Free conjunctival autografting techniques are a useful adjunct in the surgical revision of leaking, failed, or migrating filtration blebs.     

The syndrome of thrombosis, thrombocytopenia, and recurrent spontaneous abortions associated with antiphospholipid antibodies: Hughes syndrome

aPL-associated thrombosis (Hughes syndrome) is widely recognized as a major cause of organ damage in autoimmune diseases. Beginning with the first symposium in 1984, international aPL symposia have facilitated research on aPL antibodies, and the clinical standardization of aPL tests. It is hoped that the present symposium will continue this tradition, because much remains to be learnt about the origin and pathogenicity of aPL antibodies. In addition, new insights are needed for more effective therapies to be developed.     

Developmental delay, expressive aphasia, hypotonia and dysmorphism in two brothers: an X-linked mental retardation syndrome?

Five 72-86 years old women complaining of vaginal bleeding and genital discomfort during the last three weeks. Physical examination show an urethral mass of 1 cm diameter with a black, hard and painful area inside. Blood test was normal, and clinical diagnosis of caruncle urethral thrombosis was done. Topic treatment was develop with good results. We discuss the pathogenic and clinical presentation as well as the treatment of this unusual lesion.     

Genotype-phenotype analysis of a newly discovered family with Liddle's syndrome

OBJECTIVE: To investigate the clinical, biologic, and molecular abnormalities in a family with Liddle's syndrome and analyze the short- and long-term efficacies of amiloride treatment. PATIENTS: The pedigree consisted of one affected mother and four children, of whom three suffered from early-onset and moderate-to-severe hypertension. METHODS: In addition to the biochemical and hormonal measurements, genetic analysis of the carboxy terminus of the beta subunit of the epithelial sodium channel (beta ENaC) was conducted through single-strand conformation analysis and direct sequencing. The functional properties of the mutation were analyzed using the Xenopus expression system and compared with one mutation affecting the proline-rich sequence of the beta ENaC. RESULTS: Mild hypokalemia and suppressed levels of plasma renin and aldosterone were observed in all affected subjects. Administration of 10 mg/day amiloride for 2 months normalized the blood pressure and plasma potassium levels of all of the affected subjects, whereas their plasma and urinary aldosterone levels remained surprisingly low. A similar pattern was observed after 11 years of follow-up, but a fivefold increase in plasma aldosterone was observed under treatment with 20 mg/day amiloride for 2 weeks. Genetic analysis of the beta ENaC revealed a deletion of 32 nucleotides that had modified the open reading frame and introduced a stop codon at position 582. Expression of this beta 579del32 mutant caused a 3.7 +/- 0.3-fold increase in the amiloride-sensitive sodium current, without modification of the unitary properties of the channel. A similar increase was elicited by one mutation affecting the carboxy terminus of the beta ENaC. CONCLUSIONS: This new mutation leading to Liddle's syndrome highlights the importance of the carboxy terminus of the beta ENaC in the activity of the epithelial sodium channel. Small doses of amiloride are able to control the blood pressure on a long-term basis in this monogenic form of hypertension.     

Laurence-Moon-Biedl syndrome (?) and Prader-Willi syndrome (?) in a single family

Mental retardation, hypogonadism, obesity, and abnormal blood sugar regulation were common findings in two siblings. In addition, the 17-year-old female patient showed short stature, muscular hypotonia in infancy, and small hands with tapering fingers suggesting Prader-Willi syndrome, and the 12-year-old male patient showed retinitis pigmentosa, normal height, and normal muscular tonicity suggesting Laurence-Moon-Biedl syndrome, though polydactyly was absent. Possible consideration was discussed.     

Aarskog syndrome: report of a family with review and discussion of nosology

Five individuals in one family, including dizygotic male twins, a half brother and their mother, had Aarskog syndrome (AS). Phenotypic variability is wide not only between mother and sons but also between sibs. Collectively, the affected relatives have the full spectrum of findings seen in AS. Based on analysis of this family and others from the literature, we derive primary and secondary diagnostic criteria for AS. Primary criteria include: short stature, hypertelorism, short nose with anteverted nares, maxillary hypoplasia, a crease below the lower lip, mild interdigital webbing with short and broad hands, short fifth finger with clinodactyly, and shawl scrotum. Secondary criteria include: abnormal auricles with fleshy lobules, posteriorly angulated ears, widow's peak, ptosis, downward slant of palpebral fissures, joint hyperextensibility, broad feet with bulbous toes, cryptorchidism, inguinal hernia, and prominent umbilicus. Literature pertaining to the clinical manifestations and genetics of AS is reviewed and nosology of similar syndromes is discussed.     

Activity, talking time, and spontaneous agreement in disturbed and normal family interaction.

Compared 28 disturbed and normal family triads (ftaher, mother, and child) in their time spent talking during family discussions, number of action units initiated during these discussions, and agreements over questionnaire items independently completed prior to discussion. Normal families manifested significantly longer discussion times, and the individual family members could be more clearly differentiated from each other in their time spent talking. Number of action units initiated did not differentiate the family systems, but normal family members could again be discriminated more clearly from each other. Normal families also achieved significantly higher agreement scores on the prediscussion questionnaire. The relationship of these findings to earlier results reported by this author and comparisons with other evolving models of family interaction processes are discussed. (15 ref.) (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Management of spontaneous abortion in family practices and hospitals

The results of a greenhouse experiment on the translocation rate of 134Cs from potato leaves to tubers were compared with calculations of the radioecological model ECOSYS-87 and other literature values. The 134Cs activities applied at three development stages (three pinnate leaves fully developed, onset of flowering, onset of yellowing) to leaves of the plant were taken as starting points for the model to calculate the activity in the tubers at harvest. The default yield in the model was replaced by the experimentally obtained values. The translocation rate measured in the greenhouse experiment was 4 to 14 times higher than the calculations of the model. Some possible reasons for such a high translocation rate, compared with the literature data, are discussed. Based on these comparisons, it is concluded that maximal translocation occurs at the growth stage of flowering of a crop and that the development stage of a crop might be a stronger parameter to describe the time dependency of translocation than the usually applied parameter 'days before harvest'.     

A case pf spontaneous deletion in the FMR1 gene in a patient with the Martin-Bell syndrome]

Current models of Cr(VI) carcinogenesis suggest an important role for Cr(IV) as an intermediate, toxic, carcinogenic species, but direct chemical evidence has been lacking. This is because Cr(IV) is a highly reactive oxidation state of Cr and few Cr(IV)-based compounds are known that can be used as a model compound containing a biological ligand. This study reports the isolation of such a stable Cr(IV) complex. The Cr(IV)-GSH complex has been synthesized through the reaction of Cr(VI) with GSH. Its electron paramagnetic resonance (EPR) spectrum exhibits g = 1.9629 and a peak-to-peak line width of 480 G in aqueous medium as well as in the powder form. Magnetic susceptibility measurements showed that the compound has a magnetic moment of 2.53 Bohr magneton per Cr, establishing that the Cr ion has two unpaired electrons, hence its identity as Cr(IV). The Cr(IV)-GSH complex is able to generate hydroxyl (.OH) radical in the presence of molecular oxygen in aqueous medium. Catalase inhibited the .OH radical generation while H2O2 enhanced it, indicating that the .OH radical was generated via a Fenton-like reaction, H2O2 being generated as an intermediate in the reduction of molecular oxygen. Metal ion chelators, deferoxamine and 1,10-phenanthroline, attenuated the generation of Cr(IV)-mediated .OH radical. In the case of deferoxamine, a deferoxamine-derived free radical was generated as shown by EPR measurements. The results imply that Cr(IV) may play an important role in the mechanism of Cr(VI)-induced carcinogenesis and Cr(IV)-GSH can be used as a model compound to study the role of Cr(IV) in this mechanism.     

A rare case of spontaneous esophageal rupture (Boerhaave's syndrome) associated with pulmonary rupture

Spontaneous esophageal rupture (Boerhaave's Syndrome) is a life-threatening condition that requires early diagnosis and effective treatment. The authors describe a rare case of spontaneous rupture of the esophagus associated with pulmonary rupture in a 54-year-old man. The anatomical basis for the occurrence of a spontaneous esophageal rupture associated with pulmonary rupture is discussed.     

5 children with hypokalemia, hypomagnesemia and hypocalciuria (Gitelman syndrome) in one family

Gitelman's syndrome was diagnosed in five siblings. The parents were relatives in the third remove. Gitelman's syndrome is a rare autosomal recessive hereditary magnesium reabsorption defect in the distal tubule. It is characterized by episodes of muscle weakness, usually accompanied by abdominal pain and vomiting. Tetany may occur during a febrile illness. Patients are of normal height and weight and have normal blood pressures. Sometimes eczematous skin lesions are found. Biochemically there is hypokalaemia, hypomagnesaemia and alkalosis. Urinary excretion rates of potassium and magnesium are elevated, the excretion of calcium is diminished. Treatment consists of oral suppletion of magnesium, sometimes also with oral potassium. A potassium-sparing diuretic may be used. The prognosis appears to be good.     

Different manifestations of the antiphospholipid antibody syndrome in a family with systemic lupus erythematosus

OBJECTIVE: Familial associations of the antiphospholipid antibody syndrome (APS) offer the opportunity to study genetic mechanisms of autoantibody production and disease, but are unusual. We identified a family, including identical twins and their mother, in which all members had systemic lupus erythematosus (SLE) and presented with different manifestations of the APS. METHODS: Review of case histories and clinical laboratory results, antiphospholipid antibody (aPL) studies, complement C4 protein and gene analysis, and HLA typing of family members were performed. RESULTS: Each of the 3 family members presented with a different clinical association of the APS. These various clinical presentations were closely temporally related. No particular aPL activity could be separated out that would account for the different manifestations, although the twin with thrombocytopenia and livedo reticularis had a strikingly high IgM anticardiolipin antibody level. C4A or C4B deficiencies could not be implicated in the autoimmune process. However, the mother and the twins shared the HLA haplotype that included the class II antigens DR4, DRw53, and DQw7, which has previously been associated with aPL production. CONCLUSION: This family study emphasizes the different clinical associations of aPL production in SLE. In addition to genetic influences that appear to include HLA class II antigens, the clinical presentations also suggest an environmental trigger.     

A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: a patient with Wilms'' tumour is not a mutation carrier

The authors describe the case of a patient with treatment-resistant schizophrenia who became pregnant after switching from conventional neuroleptic medications to clozapine, an atypical antipsychotic medication that does not cause hyperprolactinemia. Gestational diabetes, possibly exacerbated by clozapine, complicated management of her pregnancy. Comprehensive community support and psychiatric rehabilitation, combined with a positive response to clozapine, contributed to satisfying the patient's goal of having a healthy baby and being able to take the baby home to live with her and her husband.     

Crossed ectopia of seminal vesicles, renal aplasia and ectopic ureter

A unique case of left ureteral opening into a seminal vesicle, ipsilateral renal hyperplasia and crossed ectopia of the seminal vesicles is reported. This 24-year-old white man underwent a nephroureterectomy for relief of symptoms of lower urinary tract infection. The embryological development of this abnormality is discussed briefly.     

Pfeiffer syndrome: report of a family and review of the literature

A 5-year-old boy and his father with Pfeiffer syndrome are described. They had acrocephaly, hypertelorism, antimongoloid slant of the palpebral fissures, protrusion of the eyes, large and broad nose, small mandible, irregularly placed teeth, additional upper canine, high-arched palate, partial syndactyly of fingers and toes, brachydactyly of toes, valgus deformity of hypertrophied triangular great toes, broad phalanges of the great toes and broad first metatarsals, accessory epiphyses lateral to the interphalangeal joint of the great toes, and normal intelligence. To our knowledge, this is the first family in which the syndrome is almost totally confined to the head and feet--it spares the upper limbs except for partial skin syndactyly between the fingers--and the third family showing inheritance through three successive generations suggesting an autosomal dominant mode of inheritance. The published papers are reviewed and the clinical and x-ray signs are tabulated.