Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fourteen infants and children, 6 males & 8 females, with lipomyelomeningoceles were reviewed from October 1982 to December 1991 at Taichung Veterans General Hospital. The age at diagnosis ranged from 3 days to 5 years. The chief problems included mass on the back, urinary distention, weakness of lower limbs and poor bowel control. The cutaneous lesions over the lumbosacral region were subcutaneous lipoma, dimples and hemangioma. There were several associated anomalies, such as occult spina bifida, syringomyelia, sacrococcygeal dysgenesis, high-types imperforate anus, genitourinary anomalies, congenital heart disease, talipes equinovarus and annular pancreas. Among the 12 cases who were operated on, 8 had preoperative neurological deficits, but there was only little postoperative improvement in 2. It is important to recognize at an early stage the defect underlying skin lesions and its associated anomalies, rather than to be concerned about cosmetic factors. Early surgical repair before the appearance of neurological deficits is recommended.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Lipomyelomeningocele: a 9-year review. 817 44

Deletion of the short arm of chromosome 18 is more difficult to diagnose than most of other chromosomal abnormalities as the phenotypic picture is not specific enough to establish the diagnosis. Mental retardation, short stature, and hypertelorism were some of the prominent features of the syndrome. Some systemic diseases, such as congenital heart disease, hypothyroidism, IgA deficiency, were reported to be associated with this syndrome. We present a 14-month-old male baby with a round face, protruding tongue, hypertelorism, epicanthal folds, short stature, and psychomotor retardation to be a case of chromosome 18 p-. This was a de novo deletion and was not detected till the patient's second admission to our hospital. However, there was no other systemic disease could be found. The experience learned from this patient suggests that individuals with multiple congenital anomalies and psychomotor impairment, regardless of the severity, may warrant cytogenetic analysis.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:The 18 p- syndrome: report of one case. 817 47

Fourteen patients (10 boys, 4 girls) aged from 4 months to 14 years old were diagnosed with mitochondrial disease based on the clinical manifestations together with abnormal muscle mitochondrial morphologies. Their clinical diagnoses included Leigh syndrome, three; Menkes' syndrome, three; Kearns-Sayre syndrome, two; myoclonic epilepsy with ragged fibres, one; and infant-onset progressive myoclonic epilepsy, one; fatal infantile mitochondrial myopathy, one; fatty acid oxidation defect, two; and myopathy with cardiopathy, one. Organs involved other than muscles included central nervous system, ten; heart, six; eye, two; liver, two; and kidney, two. Clinical manifestations varied to include hypotonia, seizures, myoclonus, mental retardation, nystagmus, ataxia, ptosis, ophthalmoplegia, retinal degeneration, muscle atrophy, spasticity etc. Nine had an abnormal rise in lactate after glucose loading. Ragged-red fibres were found in four patients. Abnormal mitochondrial morphology included abnormal accumulation, abnormal cristae pattern of tubular, concentric, or parallel form, some contained osmiophilic inclusion bodies. One patient of Leigh syndrome had had brain necropsy which showed intramyelin splitting of myelinated axons.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Clinical manifestation of mitochondrial diseases in children. 821 54

To characterize the changes in circulating catecholamine levels for children with varying degrees of congestive heart failure (CHF), plasma norepinephrine (NE) and epinephrine (E) levels were measured, using high performance liquid chromatography, in 94 noncyanotic congenital heart disease patients. Plasma NE levels in 43 patients with CHF were significantly higher than those in the 51 patients without CHF (704 +/- 68 pg/ml vs 274 +/- 68 pg/ml, p < 0.001). Compared with the controls, the NE levels in the mild, moderate and severe CHF subgroups increased by 2.0, 2.6 and 3.7 fold, respectively. The E concentration did not significantly vary among the groups. The plasma NE levels correlated directly with the degree of left-to-right shunt (r = 0.46, p < 0.001) and pulmonary systolic pressure (r = 0.67, p < 0.001). Thus, a highly significant association was found between the level of plasma NE and severity of CHF symptoms. A follow-up study of 15 of the 30 CHF patients after surgery disclosed a significant decline in plasma NE (p < 0.001). The results of this study clearly demonstrate that plasma NE levels parallel the presence and severity of CHF in infants and children.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Increased plasma norepinephrine levels in infants and children with congestive heart failure. 860 61

Many species of the Neisseria, which are respiratory commensals in humans, have been regarded as being nonpathogenic or as causing disease in only immunocompromised hosts. We report a case in which Neisseria sicca was the cause of infective endocarditis in a child with a ventricular septal defect and review the literature on endocarditis due to N. sicca infection. Most of these patients had an underlying heart disease. Dental caries and poor oral hygiene may be two factors that predispose patients to the infection. N. sicca endocarditis usually results in a subacute onset of symptoms and, if not diagnosed early and treated, is associated with a high rate of embolic complications.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Endocarditis due to Neisseria sicca: report of one case. 923 May 43

Inward rectifying potassium currents (Ikr and Iks) during phase 3 repolarization of the myocyte from the beginning to the end of repolarization of the myocardial syncytium will inscribe a T-U-wave on the surface electrocardiogram (ECG). Type two congenital long QT syndrome (LQT2) is a phenotype of human ether-a-go-go-related gene (HERG) mutation on the chromosome 7q 35-36. Type one congenital long QT syndrome (LQT1) is a phenotype of KvLQT1 mutation on the chromosome 11p15.5. Both LQT1 and LQT2 relate with inward rectifying potassium currents and is repolarization related, therefore, it is speculate that patients of LQT1 and LQT2 may have an abnormal T-U-wave on their surface ECG. To two probands of congenital LQT, 8 patients of structural heart disease treated by open heart surgery, 13 patients of structural heart disease without open-heart surgery, and 10 patients of normal controls, 24 hour-Holter monitoring was performed from July to December 1996. Their corrected QT interval (QTc) as well as the RR interval of every heart beat was calculated by a computer. The results showed that all 33 patients exhibited beat-by-beat fluctuation of their QTc and RR daily. The RR intervals of these two probands of congenital LQT were somewhile more than 1200 ms during circadian waking time, while 31 cases without LQT showed their RR prolongation only during the circadian sleeping time. A multi-undulant T-U-wave, or a beat-to-beat changing of vectors or amplitudes of their T-U-wave observed in these two probands of congenital LQT, were not observable in those 31 patients without congenital LQT. Therefore, we concluded that multi-undulant T-U-wave, sinus bradycardia and a longer QTc was a phenotype of the mutated genes which control the inward rectifying potassium currents during phase 3 repolarization.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Multi-undulant T-U-wave, sinus bradycardia and long QT syndrome: a possible phenotype of mutant genes controlling the inward potassium rectifiers. 929 27

DiGeorge syndrome (DGS) is a congenital anomaly involving developmental defects of the third and fourth pharyngeal pouches. Thymic aplasia or hypoplasia, parathyroid aplasia or hypoplasia, cardiac malformations, and dysmorphic facies are characteristics features. We present a case which had thymic aplasia, hypocalcemia, facial dysmorphism (hypertelorism, low set ears, cleft of soft palate, fish-like mouth and micrognathia) and congenital heart disease (ventricular septal defect, perimembranous type). The T-cell immunologic functions as a percentage of T-cell and phytohemagglutinin stimulation test were within normal range matched with age. Molecular study showed microdeletion of chromosome 22q11.2 by genotype analysis, but chromosome study of high-resolution cytogenetic analysis by G-banding technique was normal. To our knowledge, about 90% of DiGeorge syndrome patients show chromosome abnormalities, most involving chromosome 22 (monosomy of 22q11.2). In the past, most cases were proven by high-resolution cytogenetic analysis or fluorescence in situ hybridization(FISH). We report a case of DGS in Taiwan with microdeletion of chromosome 22q11.2 detected by genotype analysis.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:DiGeorge syndrome with microdeletion of chromosome 22q11.2: report of one case. 940 Nov 84


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