1/11. Acquired gain of an x chromosome as the sole abnormality in the blast crisis of chronic neutrophilic leukemia.Chronic neutrophilic leukemia (CNL) is a rare myeloproliferative disorder characterized by sustained neutrophilic leukocytosis and absence of the philadelphia chromosome. Most patients with CNL have normal karyotypes, and no specific cytogenetic abnormality has been identified. We report here a patient with CNL that evolved to myeloid blast crisis. A 73-year-old man was admitted to the hospital because of marked leukocytosis (leukocyte count 112.5 x 10(9)/L with 91% segmented neutrophils) and massive hepatosplenomegaly that was diagnosed as CNL with a normal karyotype. After treatment with hydroxyurea for 7 months, the disease progressed to a blast crisis. Bone marrow showed myeloid hyperplasia with 21% myeloblasts, 15% promyelocytes, and marked dysplastic changes of neutrophils. Blastic cells were positive for CD10, CD13, CD14, CD33, CD34, and HLA-DR. Chromosome analysis of the bone marrow cells showed 46,XY, X in all 20 metaphase spreads. We reviewed 15 cases of CNL terminating in the blast crisis and confirmed that all cases transformed into myeloid crises and had poor prognoses. Furthermore, to our knowledge, this is the first case showing the acquired gain of an extra x chromosome as a sole abnormality in CNL. The gain of an extra x chromosome may play an important role in the progression from chronic phase to the blast crisis of CNL.- - - - - - - - - - ranking = 1keywords = progression (Clic here for more details about this article) |
2/11. Anderson-fabry disease in austria.fabry disease is an X-linked inherited inborn error of glycosphingolipid catabolism. The deficiency of alpha-galactosidase A leads to the deposition of glycosphingolipids primarily in lysosomes of blood vessel cells. In classically affected hemizygotes clinical manifestations include pain in the extremities, vessel ectasia (angiokeratoma) in skin and mucous membranes, ophthalmological abnormalities, and hypohidrosis. As disease progresses there is renal, cardiac, cerebral and vascular involvement, with most patients experiencing renal insufficiency, cardiac hypertrophy or stroke. Many female carriers of fabry disease also have symptoms. Recently available enzyme replacement therapy has the potential to control or even reverse disease progression. The present analysis reports on five Austrian families with fabry disease, cared for by nephrologists in June 2002. Furthermore we discuss potential indications for enzyme replacement therapy in patients maintained on renal replacement therapy.- - - - - - - - - - ranking = 1keywords = progression (Clic here for more details about this article) |
3/11. An isolated case of Duchenne muscular dystrophy (DMD) in a female with a deletion of DMD cDNA.An isolated case of Duchenne muscular dystrophy (DMD) in a female who has a deletion of the DMD locus is described. This patient was a 26-year-old woman born to unrelated, healthy parents. She was initially examined at age 6 because of a waddling gait. At age 15, pseudohypertrophy of calves and pes equinus were observed along with proximal muscular weakness and wasting. Her serum creatine kinase level was high and histological evidence of muscular dystrophy was apparent on muscle biopsy. The patient was ambulant at age 15 and progression of motor disability has been slow. Chromosomal studies revealed a normal karyotype, and mental retardation is moderate. dna analysis at age 26 revealed that she has a deletion of DMD cDNA 8 mapped within Xp21 and is heterozygous for the deletion. Since diagnosis of DMD is now dependent on the evidence of mutation or deletion at Xp21, this patient is thought to have a form of DMD. Expression of the DMD gene in the heterozygous state might be due to random but unequal lyonization.- - - - - - - - - - ranking = 1keywords = progression (Clic here for more details about this article) |
4/11. Progressive retinal changes observed in juvenile X-linked retinoschisis.Juvenile X-linked retinoschisis (JXR) is a vitreoretinal dystrophy affecting males only. The macular and peripheral retinal alterations associated with this disorder are very specific. Initially, a stellate-shaped foveal schisis forms; as the patient becomes older, chronic retinal pigment epithelial disturbance leads to macular degeneration. Peripheral retinoschisis may also occur, but is only identified in about half of all patients with JXR. These changes, which represent degenerating vitreous, may be complicated by retinal breaks due to the thin layer of the schisis. This paper presents five cases of JXR in patients ranging from ages 4-70 years and discusses and photodocuments the progression of related retinal changes. A table of differential diagnoses is also included.- - - - - - - - - - ranking = 1keywords = progression (Clic here for more details about this article) |
5/11. X-linked myopathy with excessive autophagy: a new hereditary muscle disease.We report on 3 brothers with a myopathy that also affected their maternal grandfather and great-uncle. Characteristic features are onset in early childhood, very slow progression, normal life expectancy, weakness of proximal limb muscles, especially in the legs, elevation of serum creatine kinase, and no cardiac or intellectual involvement. In biopsy material muscle fibers are almost never necrotic but show excessive autophagic activity and exocytosis of the phagocytosed material. We suggest that this family has an undescribed type of congenital myopathy, for which we propose the name X-linked myopathy with excessive autophagy.- - - - - - - - - - ranking = 1keywords = progression (Clic here for more details about this article) |
6/11. Endocrine studies in primary hypogonadism.Two 15-year-old boys with primary hypogonadism had evaluation of their hypothalamic-pituitary-gonadal axis. Testicular biopsies and chromsomal studies were also performed. Both patients presented with delayed puberty and short stature and had prepubertal LH, FSH and testosterone concentrations. Serial 24-hour frequent-interval blood studies over a 2-year period in one patient (R.F.) showed a gradual progression from a normal early pubertal LH secretory pattern to one characteristic of 'primary' testicular failure. The testicular biopsies showed prepubertal tests with no significant germinal cell maturation. Although both patients had some somatic stigmata of Noonan's syndrome, they had different karyotypes (XY and xyq-). These studies show that elevated levels of LH and FSH in primary hypogonadism syndrome may not become apparent until after the onset of CNS puberty.- - - - - - - - - - ranking = 1keywords = progression (Clic here for more details about this article) |
7/11. Loss of the y chromosome in a cultured human salivary-gland adenocarcinoma.Using in vitro methods, the G-banding pattern in a highly differentiated adenocarcinoma of the parotid gland is described. Results from two consecutive preparations of the carcinoma indicated that it had originated with a normal diploid stemline and, subsequently, during progression had developed an aneuploid stemline deviating from the normal only by loss of the y chromosome. From this hypodiploid stemline some clones and variant cells had been generated, all of them characterized by numerical deviations, particularly various trisomies. Important cytogenetic similarities were found between the present adenocarcinoma and other types of salivary gland neoplasms, in particular pleomorphic adenomas.- - - - - - - - - - ranking = 1keywords = progression (Clic here for more details about this article) |
8/11. X-linked spinal and bulbar muscular atrophy of late onset (Kennedy-Stefanis disease?).X-linked spinal and bulbar muscular atrophy of late onset is a rare variety of motor neuron disease. In this report a Greek family with 2 affected brothers is described. It is interesting that all Greek cases of this disease originate from a small group of Greek islands. Transient fatigue is an additional feature of the disease which is manifested sometimes before other symptoms are apparent. The progression of the disease appears to be faster than in spinal muscular atrophy of Wohlfart-Kugelberg-Welander. Regarding the name of this disorder, we propose the descriptive term, 'X-linked spinal and bulbar atrophy of late onset' or 'Kennedy-Stefanis disease.- - - - - - - - - - ranking = 1keywords = progression (Clic here for more details about this article) |
9/11. Localised proton magnetic resonance spectroscopy in X-linked adrenoleukodystrophy.We have performed localised proton magnetic resonance spectroscopy (MRS) of the brain on four patients with X-linked adrenoleukodystrophy (X-ALD). The spectrum is characterised at the beginning of the disease by a decrease in N-acetylaspartate and phosphocreatine-creatine content. choline is strongly increased, and lactate can be detected in some cases. A proton signal from the CH2 groups borne by free intracellular very long chain fatty acids can also be observed. Later in the disease, the levels of all metabolites, in particular NAA, decrease significantly. The progression of neurometabolism documented by MRS correlates well with MRI and clinical progression on follow-up study. In one case, the metabolic profile recorded by proton MRS was abnormal before any change occurred on MRI. Proton MRS of the brain might be the method of choice for monitoring patients with X-ALD, to screen presumed cases and to study the effects of treatment.- - - - - - - - - - ranking = 2keywords = progression (Clic here for more details about this article) |
10/11. Premutation for the Martin-Bell syndrome analyzed in a large Sardinian family: III. Molecular analysis with the StB12.3 probe.This report complements a series of clinical, cytogenetical, and psychological studies previously reported on a large Sardinian pedigree segregating for premutations and full mutations associated with the Martin-Bell syndrome (MBS). Using the StB12.3 probe, we report now the molecular classification of all of the critical members of the pedigree. These molecular findings are evaluated against the variable phenotypic manifestations of the disease in the course of a six-generation segregation of an MBS premutation allegedly present in a common female progenitor of 14 MBS male patients and 9 female MBS heterozygotes seen in the last two generations. The nature and stepwise progression of MBS-premutations toward the fully manifested Martin-Bell syndrome and the possibility of reverse mutational events toward the normal allele are discussed with respect to the application of the presently available diagnostic tools in genetic counselling.- - - - - - - - - - ranking = 1keywords = progression (Clic here for more details about this article) |
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