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At least 1,171 records · Page 65Linked to original sources
PubMed1980

[Partial 11q trisomy due to missegregation of maternal t(11;22) (q23;q11.1) translocation (author's transl)].

In a 4-month-old female infant with multiple congenital abnormalities karyotyping revealed a 47,XX, + der (22), t (11;22) (q23.1;q11.1) mat pattern, resulting from a maternal translocation, which was also found in other members of the mother's family. The phenotype was consistent with the physical abnormalities described in previously reported cases of partial 11 q trisomy. The apparently high incidence of this type of translocation is surprising.

Abnormalities, Multiple↗
PubMed1995

Incontinence and anorectal dysfunction in patients with diabetes mellitus.

The elucidation of the pathogenesis of faecal incontinence in patients with advanced diabetes mellitus has progressed during the last 15 years. In contrast to earlier concepts which promoted the concept that high stool volumes overwhelm normal continence mechanisms, recent studies indicate that the vast majority of diabetic patients with faecal incontinence have normal or only moderately increased daily stool volumes, but also exhibit multiple abnormalities of anorectal sensory and motor functions. These changes are not observed in continent diabetic patients. Treatment consists of pharmacologic and dietary interventions to modulate diarrhoea, and biofeedback techniques to improve rectal sensory thresholds and striated muscle responsiveness of continence mechanisms. This dual approach is often successful and is free of risks.

Anal Canal↗
PubMed1994

Aneuploidy and aneusomy of chromosome 7 detected by fluorescence in situ hybridization are markers of poor prognosis in prostate cancer.

Fluorescence in situ hybridization is a new methodology which can be used to detect cytogenetic anomalies within interphase tumor cells. We used this technique to identify nonrandom numeric chromosomal alterations in tumor specimens from the poorest prognosis patients with pathological stages T2N0M0 and T3N0M0 prostate carcinomas. Among 1368 patients treated by radical prostatectomy, 25 study patients were ascertained who died most quickly from progressive prostate carcinoma within 3 years of diagnosis and surgery. Tumors from 25 control patients who survival for more than 5 years and who were matched for age, tumor histological grade, and pathological stage also were evaluated. The tumors from all 25 (100%) poor prognosis patients and from 11 of 25 (44%) control patients were found to be aneuploid by fluorescence in situ hybridization (P < 0.0001). Alterations of chromosome 7 were observed in 24 of the tumors (96%) from the poor prognosis patients versus 3 tumors (12%) from the control group (P < 0.0001). Moreover, a characteristic aneuploidy pattern with multiple abnormal chromosomes and a hypertetrasomic population was generally found in tumors from the poor prognosis patients. This preliminary study suggests that fluorescence in situ hybridization studies of prostate cancer specimens may help to identify those patients at highest risk for early cancer death.

Aged↗
PubMed1995

[Allogenic bone marrow transplantation for Fanconi's anemia with leukemic transformation from an HLA identical father].

We report a case of a 19-year-old male with congenital aplastic anemia and multiple abnormalities; short stature, hypoplastic thumb, skin pigmentation and mental retardation. He was admitted to our hospital because of severe pancytopenia. Bone marrow aspiration showed markedly hypocellular marrow with 42% myeloblasts. He was diagnosed as AML (M2) transformed from Fanconi's anemia and underwent allo-BMT from an HLA-identical father. The conditioning regimen consisted of high dose Ara-C, high dose etoposide and 12Gy fractionated total body irradiation. Severe toxicity associated with the conditioning regimen was not observed. Cyclosporin A and short-term methotrexate were administered for prophylaxis of acute GVHD. Neither acute nor chronic GVHD were observed. He is well and free of disease for 15 months since BMT. Very few cases of Fanconi's anemia with leukemic transformation treated by BMT have been reported. Long-term observation will be necessary to evaluate our conditioning regimen for Fanconi's anemia with leukemic transformation.

Adult↗
PubMed1994

Fetus with features of Crane-Heise syndrome and aminopterin syndrome sine aminopterin (ASSAS).

A male fetus with multiple congenital abnormalities is reported. The parents of the fetus are consanguineous. There were unusual facial features, digital anomalies, cleft palate, a malformed tongue that prevented swallowing, absent clavicles and genital hypoplasia. The fetus had features suggestive of both Crane-Heise syndrome and aminopterin syndrome sine aminopterin (ASSAS), and may represent part of a spectrum of abnormalities including these conditions.

Abnormalities, Multiple↗
PubMed1994

Hypomelanosis of Ito associated with West syndrome: report of a case.

Hypomelanosis of Ito (HI) is a rare neurocutaneous disorder characterized by hypopigmented macules along the Blaschko line and multiple abnormalities, including seizures, developmental retardation, ophthalmologic defects, and chromosome mosaicism. We report a four-month-old female baby with typical skin lesions on the right upper limb, chest, and scalp, noted at the age of one week. She also had a seizure disorder which manifested as neck flexion and hand gripping with series formation from the age of three months. Electroencephalogram (EEG) demonstrated modified hypsarrhythmia. The characteristic clinical and electroencephalographic features favored the diagnosis of West syndrome. Magnetic resonance imaging revealed an absence of abnormal neuronal migration. The auditory brainstem evoked response, nerve conduction velocity, and ophthalmologic examinations were all within normal limits. The seizure responded to adrenocorticotropic hormone therapy on the 12th day of initial therapy, and the EEG became normal. However, another different pattern of seizures characterized by staring and lateral gaze in a right upward direction occurred two weeks later. Carbamazepine and phenobarbital were added to the therapeutic regimen. She was regularly followed up at the outpatient department every two weeks after one-and-a-half months of hospitalization. Infantile spasms with evidence of hypsarrhythmias in the EEG recurred at seven months of age. Oral steroid therapy reduced seizure frequency by 80%. As far as we know, this is the first case report of HI combined with infantile spasms in Taiwan.

Female↗
PubMed1994

Phenotypic variability of del(2) (q22-q23): report of a case with a review of the literature.

An interstitial deletion of 2q22-q23 was found in a 2.5 year old boy with multiple congenital abnormalities (including Hirschsprung's disease) and severe mental retardation. Comparison with seven additional cases of 2q deletions from the literature does not allow the delineation of a clinically recognizable syndrome. Some of the previously reported patients had features rarely observed in chromosomal syndromes (i.e., occipital encephalocele and tracheo-esophageal fistula). Possible reasons for such phenotypic variability are briefly discussed.

Abnormalities, Multiple↗
PubMed1994

Lysosomal enzyme activities in Chediak-Higashi syndrome: evaluation of lymphoblastoid cell lines and review of the literature.

Chediak-Higashi syndrome (CHS) is an inherited immunodeficiency disorder characterized by giant lysosomal granules in all granule-containing cells. Prior examination of lysosomal enzyme activities in granulocytes and other cells derived from patients with CHS have revealed multiple abnormalities, with the predominant finding being diminished activity of many of the enzymes tested. Abnormalities in lysosomal enzyme activity are also found in animal models of CHS (cattle, aleutian mink, and beige mice). In this study, we have examined lymphoblastoid cell lines derived from a patient with CHS and from an individual heterozygous for the CHS gene for acid phosphatase, beta-glucuronidase, and alpha-mannosidase activity. These cell lines have recently been shown to be satisfactory in vitro models for the disease. Acid phosphatase activity was increased in the heterozygous-derived cell line when compared to control while other enzyme activities were normal both in the CHS- and heterozygous-derived cell lines. We have reviewed the literature and summarized published abnormalities of lysosomal enzyme activities in humans and animals with CHS.

Acid Phosphatase↗
PubMed1994

[Early prenatal diagnosis of asymmetric cephalothoracopagus twins].

The authors report on one case of cephalothoracopagus Janiceps conjoined twins discovered by echography at 18 weeks' gestation. Conjoined twins have been said to occur with a frequency of 1/50,000 to 1/100,000 deliveries. The incidence of the cephalothoracopagus variety is one in three million births or one in 58 conjoined twins. Three different mechanisms that may have played a role in the abnormal development of these twins are discussed. The risk that the condition recurs in a subsequent pregnancy are to be considered negligible.

Abnormalities, Multiple↗
PubMed1994

Idiopathic fetal ascites associated with pregnancy from father-daughter incest. A case report.

A 15-year-old primigravida registered late for antenatal care (23 weeks). Ultrasound examination revealed massive idiopathic fetal ascites necessitating in utero paracentesis at 27 weeks. The family was socially dislocated, and the patient's alcoholic father doted on her. A live female fetus with ascites and multiple congenital abnormalities was delivered at 34 weeks. Following repeated hospitalization, the infant died of pneumonitis, at 5 months of age; autopsy could not determine the cause of the ascites. Young pregnant teenagers from broken homes with doting behavior from an alcoholic father should be suspected of being incest victims.

Abnormalities, Multiple↗
PubMed1993

Mechanisms of endothelial cell damage in systemic sclerosis and Raynaud's phenomenon.

OBJECTIVE: To investigate tumor necrosis factor (TNF), circulating immune complexes (CIC) and oxidized lipoproteins [measured as thiobarbituric acid reactive substances (TBARS)] as mediators of damage to endothelial cells (EC) in systemic sclerosis (SSc) and Raynaud's phenomenon (RP). METHODS: In addition to CIC, TBARS and TNF, von Willebrand factor (vWF), angiotensin converting enzyme (ACE) and EC cytotoxicity were measured as markers of EC damage. C-reactive protein (CRP) and rheumatoid factor (RF) were measured as indicators of inflammation. RESULTS: There were increases in TBARS and CIC, vWF and EC cytotoxicity, and CRP, with reduced levels of ACE. There were no correlations between any possible mediator of damage (TNF, TBARS, CIC) and indicators of such injury to the endothelium (vWF, ACE, EC cytotoxicity) except an inverse correlation between vWF and ACE. When patients with SSc were classified into those with limited disease (ISSc) or diffuse disease (dSSc), only wWF was different, being higher in patients with dSSc. In RP, vWF, RF and TBARS were again raised and ACE was lower. The only correlation was inversely between vWF and ACE. CONCLUSION: Our results are suggestive of injury to the endothelium in both SSc and RP, with greater damage in patients with dSSc. Although there were multiple abnormalities in biochemical and immunological indices, there were no consistent correlations to explain the clear damage to the vasculature. We conclude that additional mechanisms other than TNF, CIC and lipid peroxides may be responsible for the insult to the vascular tree so evident in these patients.

Adult↗
PubMed1993

[Partial 12q trisomy and chylothorax].

The authors present a case of partial trisomy 12q associated with chylothorax, diagnosed at 30 weeks of pregnancy. Cordocentesis for the karyotype as well as thoracocentesis were carried out. In spite of the administration of tocolytic drugs the patient delivered a girl with multiple clinical abnormalities, who died at 7 days of age. From this case, the authors report 6 other cases of partial trisomy 12q in the literature, and, in the discussion they suggest the management after the diagnosis of hydrothorax has been made by ultrasound.

Abnormalities, Multiple↗
PubMed1993

New syndrome with features overlapping the Baller-Gerold and Roberts syndromes.

A male fetus is described with multiple congenital abnormalities including craniosynostosis and bilateral radial aplasia. There are many similarities to the case recently reported by Imaizumi and Kuroki (Am J Med Genet 41: 162-163). These cases may represent a new syndrome with overlapping features of the Baller-Gerold and Roberts syndromes.

Abnormalities, Multiple↗
PubMed1976

Cebo-anancephaly.

A case of cebocephaly associated with anencephaly, preauricular appendages and single umbilical artery in a stillborn full term female fetus is described. The changing nomenclature of the median faciocerebral defects, which has led to an apparent confusion, is discussed. It is felt that paucity of literature on cebocephaly is partly due to missed diagnosis of these cases in the absence of a competent teratologist.

Abnormalities, Multiple↗