The effect of alpha-hemoglobin gene deletions on the red blood cells' mean cell volume and hemoglobin levels.
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Adult↗
Biomedical subjects
M A Ali
Publications and source records attributed to M A Ali.
Long-term follow up of clear cornea trabeculectomy.
We evaluated the long-term results of Cairns' clear cornea "trabeculectomy" performed on the Glaucoma Service of the Wills Eye Hospital in six patients with serious glaucoma. Although postoperative pressures initially were lower in all six, these lower pressures were not maintained. Pressure in three of the patients finally was controlled only after instituting medical treatment, including carbonic anhydrase inhibitors in two. The operation failed in the other three, two of whom underwent further surgeries. We conclude that Cairns' clear cornea trabeculectomy, in itself, is not adequate to control intraocular pressure in cases of serious glaucoma.
Adolescent↗
Trabeculectomy for glaucoma associated with Sturge-Weber syndrome.
We reviewed the results of trabeculectomy performed in six patients (seven eyes) with glaucoma associated with the Sturge-Weber syndrome. After follow-up periods ranging from 9 months to 9 years, intraocular pressure control was adequate in two eyes without the use of antiglaucoma medication; control was good in four eyes with mild medication. One eye required three trabeculectomies and postoperative medication to achieve control. There was no further deterioration of visual acuity or of the optic nerve in any of the eyes.
Adolescent↗
Positional effect of cis/trans alpha globin gene deletions on the formation of "H" bodies.
Normal individuals have four alpha-globin genes, two on each member of the chromosome 16 pair (alpha alpha/alpha alpha). The alpha-thalassemia trait phenotype associated with deletions of two alpha-genes can be either on the same chromosome, the cis type (alpha alpha/--), or on opposite chromosomes, the trans type (alpha-/alpha-). Traditionally, the observation on vitally stained smears of occasional cells containing "H" bodies has been used as an important diagnostic criterion for alpha-thalassemia trait. These "H" bodies are thought to be precipitated beta tetramers because of the presence of excess beta-globin chains. Our study in patients with various alpha-genotypes indicates that normal subjects (alpha alpha/alpha alpha) and patients with silent alpha-thalassemia trait (alpha alpha/alpha-) generally have no "H" bodies. However, patients with the two-gene deletion of the cis type alpha-thalassemia (alpha alpha/--) show the occasional "H" body, and those with Hb "H" disease (alpha-/-- or alpha cs-/--) show many such bodies. On the other hand, patients with two-gene deletion of the trans type (alpha-/alpha-) do not show "H" bodies. The number of "H" bodies found does not appear to correlate directly with the degree of imbalance in alpha- and beta-chain production among the various alpha-genotypes examined. The chemical nature of "H" bodies is discussed, and an alternative hypothesis that embryonic zeta chains expressed in the cis type but not in the trans type of alpha-thalassemia are involved in the formation of "H" bodies is proposed.
Blotting, Southern↗
Fine-needle biopsy: comparison of cellular yield with and without aspiration.
Fine-needle biopsies with and without aspiration were performed on 103 lesions, and the cellular yields obtained by the two techniques were compared. A scoring system was devised by which the amount of material obtained in each needle stick was estimated. The mean score/stick for fine-needle biopsy with aspiration was 2.7; for biopsy without aspiration, it was 2.9. The results of this study indicate that there is no significant difference in the amount of cellular material obtained by the two techniques. It is concluded that needle biopsy without aspiration may be performed routinely with good results.
Biopsy, Needle↗
Fine-needle aspiration biopsy of clear-cell sarcoma of the kidney: light and electron microscopic features.
Smears from seven fine-needle aspiration biopsies from three patients with clear-cell sarcoma of the kidney were reviewed, and the findings were correlated with corresponding histopathologic appearances. In two cases, the tumor cells were polygonal to spindle-shaped and were loosely arranged in a matrix of mucoid material. The histopathologic examination of the resected tumors in these cases revealed a classic pattern. In the third case, the aspiration smears revealed round to polygonal cells with moderate to abundant cytoplasm but without the mucoid matrix. The predominant histologic appearance of this tumor was an epithelioid trabecular pattern. Electron microscopic findings were similar to those described in published studies.
Biopsy, Needle↗
Aspiration cytology of Wilms' tumor: correlation of cytologic and histologic features.
We examined the cytomorphologic features of fine-needle aspiration biopsy (FNAB) specimens from 23 Wilms' tumor patients. The findings were correlated with histopathologic patterns from these tumors. The study revealed a close resemblance between the cytologic and histopathologic appearance of various cellular elements in Wilms' tumors. The major cellular patterns seen in Wilms' tumor include blastemal cells, blastemal cells with epithelial differentiation, blastemal cells with tubular differentiation, and stromal elements. It is hoped that recognition of these cellular components in aspiration smears will be helpful in establishing an FNAB diagnosis of Wilms' tumor.
Biopsy, Needle↗
Large meningioma of the foramen magnum in a 4-year-old child.
The case of a 4-year-old boy with 4 months' history of progressive quadriplegia is presented. The neuroradiological work-up, which included computed tomography scanning and magnetic resonance imaging, showed changes consistent with the diagnosis of a large mass lesion in the area of the foramen magnum. At operation a meningioma was completely excised. There was a gradual and almost complete neurological recovery.
Child, Preschool↗
Chronic gamma-radiation sensitivity of skin fibroblasts from patients with non-Hodgkin's lymphoma (NHL).
Cultured skin fibroblasts from 11 patients with non-Hodgkin's lymphoma (NHL), 3 with ataxia telangiectasia (AT), 3 AT heterozygotes and 6 healthy subjects were studied for impaired colony-forming ability upon chronic exposure to gamma-radiation. A comparison of survival curves of the different cell lines revealed an AT heterozygote-like response (intermediate radiosensitivity) in 8 (73%) out of 11 NHL patients. These results suggested that the majority of the NHL patients may have an underlying abnormality of DNA repair.
Adolescent↗
Serum levels of CA 125 in patients with gastrointestinal cancers.
Serum levels of CA 125 and markers reputed as specific for cancers in relevant locations (squamous cell carcinoma, SCC, carcinoembryonic antigen, CEA, CA 19.9, alpha-fetoprotein, AFP) were determined in 107 patients with gastrointestinal (GI) carcinomas. The aim of this study was to assess their individual and combined sensitivities, and the power of CA 125 in excluding primary ovarian epithelial cancer from GI primary. Serum CA 125 levels (in U/ml) ranged from nondetectable to 400 in patients with esophageal, to 570 in those with gastric, and to 300 in patients with colorectal carcinoma. The levels for liver secondaries, pancreatic, and hepatocellular carcinoma were 480, 2,720 and 1,100 U/ml, respectively. Serum SCC antigen was elevated in all patients with esophageal cancer, CEA or CA 19.9 in 52% of patients with gastric cancer and in 63% with liver secondaries, and CEA in 95% of patients with colorectal cancer; whereas serum CA 125 above 65 U/ml was found in 25% of this subgroup, but only in those with already an elevated concentration of specific marker(s). Serum CEA or CA 19.9 was elevated in 71%, CA 125 in 59% of patients with pancreatic cancer; the latter mostly in those with already elevated CEA or CA 19.9. Serum AFP was elevated in 84% and CA 125 in 40% of patients with hepatoma; the latter mostly in those with already an elevated AFP. CA 125 values exceeding 1,000 U/ml were found in 1 patient with pancreatic cancer (2,720 U/ml) and in 2 with hepatoma (1,050 and 1,100 U/ml). These findings illustrate the nonspecificity of the CA 125 antigen, its small if any advantage compared to the specific markers, and they diminish its role as a marker for primary ovarian cancer from GI primary unless it exceeds 2,800 U/ml.
Antigens, Neoplasm↗
The interaction of anti 3.7 type quadruplicated alpha-globin genes and heterozygous beta-thalassemia.
Human alpha-globin gene mapping was carried out using a variety of restriction endonucleases (Bgl II, Bam HI, Hind III, Eco RI, Hpa I, Pvu II and Rsa I) on members of a family from El Salvador and a female from Hawaii, of Chinese descent, whose hematological and clinical parameters were those of beta-thalassemia intermedia. Southern blot DNA analysis showed that the beta-thalassemia intermedia patients from the above two families had the same anti 3.7 type quadruplicated alpha-genes on the one chromosome, and that they had the alpha genotype alpha 2, alpha 1 alpha 2, alpha 1 alpha 2, alpha 1/alpha 2, alpha 1. The alpha/beta globin synthesis ratios of the three affected Salvadoran patients were around 2.5, and the affected Hawaiian patient was 2.9. These ratios strongly suggest that the additional alpha-genes in the anti 3.7 type rearrangement are biologically active, thus accounting for the severity of the heterozygous beta-thalassemia observed among these patients.
DNA↗
Structure of the external retina of the oviparous, hermaphroditic fish Rivulus marmoratus Poey.
The external retina of the oviparous, hermaphroditic fish Rivulus marmoratus was examined ultrastructurally. The outer nuclear layer is about half as thick as the inner nuclear layer, and a single layer of ganglion cells is present. Single and double cones are present and these are arranged in a square mosaic. The pigment epithelium is not very well developed and extends only to the level of the cone ellipsoids in the light-adapted retina. However, the sparse pigment granules do migrate in response to light and are capable of isolating cone outer segments. Cone synaptic ribbons show extreme changes in length. The pigment epithelium contains myeloid bodies, which show variations with the photic state; and structures reminescent of phagosomes but without the limiting membrane. The structure of the external retina of R. marmoratus is discussed in relation to its behaviour and habitat.
Animals↗
Aspiration cytology of retinoblastoma: light and electron microscopic correlations.
A series of 16 cases of retinoblastoma diagnosed by fine-needle aspiration biopsy (FNAB) and confirmed by histologic examination is reviewed, and the salient cytomorphologic features are described. Two types of cells were encountered in the aspiration smears; type I cells were undifferentiated while type II cells showed more differentiation and frequently revealed cytoplasmic processes that are probably indicative of early photoreceptor differentiation. Flexner-Wintersteiner rosettes characteristic of retinoblastoma were found in 10 of 16 cases. These findings were further correlated with ultrastructural examination of the tumors in nine cases. It is concluded that the presence of rosettes and type II cells with cytoplasmic processes are the two features that are most helpful in the FNAB diagnosis of retinoblastoma.
Biopsy, Needle↗
Aspiration cytology of neuroblastoma: light microscopy with transmission and scanning electron microscopic correlations.
Fine-needle aspiration biopsies from three patients with neuroblastoma were studied by light microscopy, and the morphologic findings were correlated with those from transmission and scanning electron microscopy. Light microscopic examination of the aspiration smears from all three cases revealed small and large round cells with variable numbers of intertwining cytoplasmic processes. Transmission electron microscopy confirmed the light microscopic finding of cytoplasmic processes; in addition, it revealed the presence of other diagnostic morphologic features, including neurosecretory granules, microtubules, and synaptic cell junctions. Scanning electron microscopy demonstrated that the tumors were composed of a mixture of undifferentiated round cells and more differentiated cells with long cytoplasmic processes. The morphologic spectrum of these processes and their interrelationships with one another and with other cells could be studied in detail. These findings indicate that scanning electron microscopy may be used effectively in the morphologic evaluation and pathologic diagnosis of neuroblastoma.
Biopsy, Needle↗
Structural changes in retinal pigmented epithelium of Rivulus marmoratus Poey embryos during development.
In Rivulus marmoratus development of retinal pigmented epithelium (RPE) parallels that of retinal photoreceptors. Although structurally functional by mid-incubation the full complex structure is not achieved even when the yolk-sac is absorbed (3-days post-hatched). Melanogenesis is evident at 0.2 incubation with premelanosomes present up to three days after hatching. The distribution of junctional complexes, basal membrane foldings and coated-pits throughout development is noted. Myeloid bodies, already present at mid-incubation, appear initially as single lenticular-shaped structures which later may form whorls, or coalesce around oil droplets, glycogen clusters or phagosomes thereby giving rise to myeloid patterns characteristic of a mature RPE. The functional significance of these changes is discussed.
Animals↗
Bile-plug syndrome.
A case of bile plug syndrome in a 6-week-old male infant is described. The clinical, radiological and pathological appearances suggested the preoperative diagnosis. Confirmation and correction of this condition was made surgically.
Bile↗
Colonoscopic diagnosis and medical treatment of ten patients with colonic tuberculosis.
Ten patients with tuberculous enterocolitis were diagnosed colonoscopically. In four, the diagnosis was confirmed by positive acid fast stain or the presence of caseating granuloma in colonic biopsy material or ileal washings. In one other patient a cervical lymph gland revealed acid-fast bacilli. He was the only patient with extraintestinal disease, indicating that primary tuberculous colitis is probably more common than secondary in Saudi Arabia. In the other five patients the colonoscopic diagnosis was confirmed by a complete response to antituberculous triple therapy. Six patients had hypertrophic, two ulcerohypertrophic and two widespread ulcerative lesions. Colonoscopy with biopsies has definite advantages over barium enema in diagnosis. After thus excluding malignancy, Crohn's disease remains the most important differential diagnosis. A ten-week therapeutic trial of antituberculous treatment is recommended in patients from high-risk populations with a typical history and colonoscopic picture to avoid the morbidity and mortality of diagnostic laparotomy.
Adult↗
Some rare hemoglobin variants with altered oxygen affinities; Hb linkoping [beta 36(C2)Pro----Thr], Hb Caribbean [beta 91(F7)Leu----Arg], and Hb Sunnybrook [beta 36(C2)Pro----Arg].
A few rare hemoglobin variants with altered functional properties have been observed in Canadian subjects with either an erythrocytosis or mild anemia. These variants were Hb Alberta [beta 101(G3)Glu----Gly], Hb Linkoping [beta 36(C2)Pro----Thr], a new variant Hb Sunnybrook [beta 36(C2)Pro----Arg], and Hb Caribbean [beta 91(F7)Leu----Arg]. Short clinical descriptions of the subjects are given, the characterization of the variants is described in detail (except for Hb Alberta), while data from some functional analyses are provided. Comparisons with previously published data have been made and the unusual chromatographic property of two abnormal beta chains in a reversed phase high performance liquid chromatographic system is reviewed.
Aged↗