Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Anomalies of venous return due to absence of the ductus venosus have been described in the literature. This is a report of the prenatal diagnosis of two cases of isolated ductus venosus agenesis occurring at 20 and 37 weeks' gestation, confirmed postnatally by color-coded Doppler sonography. In both cases the hepatic veins assumed the function of the ductus venosus without compromising fetal hemodynamics or causing hydrops. In the first case, a healthy female infant was delivered at term. In the second case, a 46,XY,dup(8) (q21.1q22)[35]/47,idem, + r(8)[15] karyotype was diagnosed by amniocentesis. The male newborn showed facial anomalies, a bell-shaped thorax and increased intermamillary distance. There was muscular hypotonia, delayed psychomotor development and an inspiratory stridor leading to obstructive nocturnal dyspnea. On the basis of our observations in these two cases and previous reports from animal studies, we conclude that absence of the ductus venosus may be compatible with normal fetal development without relevant disturbance of circulation and oxygenation.
 ...
PMID:Prenatal diagnosis of ductus venosus agenesis: a report of two cases and review of the literature. 958 41

A 16-month-old boy was hospitalized because of a 1-day history of severe ketoacidosis with lethargy, hypotonia, vomiting, and important dyspnoea. Organic acid assay by gas chromatography-mass spectrometry confirmed the diagnosis of methylmalonic acidaemia (MMA). On the sixteenth day, he developed an acute extrapyramidal disorder. The CT scan of the brain disclosed bilaterally symmetric lucency of basal ganglia. He died at 17 months of age. Post-mortem neuropathological examination, showed severe necrosis with spongiosis, cystic cavitation and numerous lipid-laden macrophages of the globi pallidi, and mild spongiosis of subthalamic nuclei, mammillary bodies, portion of internal capsule adjacent to globus pallidus, superior cerebellar peduncles and tegmentum of brainstem. Pallidal infarction, a focal ischaemic lesion, demonstrates that ischaemia/energy depletion may be important in the etiology of the neuropathology of MMA.
 ...
PMID:Methylmalonic acidaemia with bilateral globus pallidus involvement: a neuropathological study. 976 99

A rural-area resident male patient deliberately ingested chlorpiriphos, an organophosphate insecticide. Although presented with cholinergic symptoms initially, he suffered general condition deterioration after 4 d characterized by muscular weakness, hypotonia, arreflexia and recumbent dyspnea requiring ventilatory support. These clinical manifestations occur from liposoluble organophosphates or metabolites with long-lasting half time, causeing delayed inhibition of acetylcholinesterase and subsequent burn out of the neuromuscular junction from acetylcholine overstimulation.
 ...
PMID:Intermediate syndrome secondary to ingestion of chlorpiriphos. 1120 75

Three infants with documented mitochondrial fatty acid oxidation disorders are described in this report. Case 1. Carnitine/acylcarnitine translocase deficiency. (CACT) (OMIM 212138) A two-day-old male developed sudden cardiac arrest 48 hours postpartum, with a previous history of early death (day 2) in siblings with a history of parental consanguinity; somnolence, inactivity, refusal to suck within 24 h, hepatomegaly, persistent hypoglycemia, hypocalcemia, hyperkalemia and severe metabolic acidosis prior to cardiac arrest. Dried blood spots by tandem mass spectrometry demonstrated 10 x elevation of palmitoylcarnitine, moderate elevation of oleylcarnitine, steroylcarnitine and myristoylcarnitine. Case 2. Medium chain acyl CoA dehydrogenase (MCAD) deficiency. (OMIM 212139) A six-week-old male infant, developed sudden cardiac arrest after contacting a viral illness, resuscitated successfully in the first episode, only to succumb during the second episode, 2 weeks apart. Plasma acylcarnitine via tandem mass spectrometry was reported normal; however, urine organic acids via gas liquid chromatography and mass spectrometry demonstrated characteristic metabolites consistent with MCADD. Case 3. Carnitine deficiency, systemic primary. (CDSP) (OMIM 212140) A one-year-old girl with progressive dyspnea since birth and a history of parental consanguinity. Severe dilated cardiomyopathy with episodes of cardiac decompensations, hepatomegaly, anemia, generalized hypotonia, but no hypoglycemia were demonstrated prior to cardiac arrest. Extremely low carnitine level noted in dried blood spots via tandem mass spectrometry.
 ...
PMID:Mitochondrial fatty acid oxidation disorders in Thai infants: a report of 3 cases. 1240 51

We experienced perioperative management for excision of a huge sternal chondrosarcoma squeezing the heart. A 46-year-old woman could not sleep due to dyspnea for 6 months. Dyspnea increased in the right decubitus and disappeared in the left decubitus. This suggested that the heart was squeezing the tumor. MRI and echocardiography revealed no invasion to the heart. Surgical removal was proposed. Anesthesia was induced with propofol and fentanyl. As this tumor composed of bone-like tissue and was tightly connected with thoracic cage, we thought that the use of muscle relaxant at the induction of anesthesia would not cause cardiovascular collapse and ventilation insufficiency even if the tumor was huge. Vecuronium was administered to facilitate endotracheal intubation. Hemodynamic variables were stable and mask ventilation was uneventful. Anesthesia was maintained with propofol, sevoflurane, supplemental dose of fentanyl and epidural anesthesia. The tumor had invaded the myocardium and was successfully flaked off from the myocardium without using any assisted devices. The tumor was excised including thoracic wall (sternum and parts of 3rd to 12th ribs, 20 cm in diameter). Thoracoplasty was performed using Marlex Mesh. Muscle relaxant was reversed after the end of the operation. Respiration was stable without flail chest. Endotracheal tube was successfully removed in the operation room. The postoperative course was uneventful.
 ...
PMID:[Anesthetic management of a patient with squeezed heart by huge sternal tumor]. 1291 Sep 79

Infectious diseases belong to the most frequent reasons to seek emergency care. Life-threatening infectious emergencies, which require rapid diagnosis and hospitalisation, are, however, rare. Leading signs and symptoms are high fever combined with rapidly deteriorating general conditions, hypotonia, tachycardia, tachypnea, dyspnea, confusion, headache, or petechia or information about asplenia, immunosuppression or recent travel to the tropics. Life threatening situations, such as suspicion of invasive meningococcal infection or bacterial infection in an asplenic patient, septic-toxic shock, and acute bacterial meningitis with delayed hospitalisation require rapid start of empiric antibiotic therapy in the outpatient practice. In addition, acute infectious emergencies comprise situation for which post exposure prophylaxis is indicated.
 ...
PMID:[Acute infectious emergencies in adults in medical practice]. 1599 31

In a new family with X-linked congenital autophagic vacuolar myopathy (AVM), seven affected boys presented with congenital hypotonia, dyspnea, and dysphagia with delayed motor milestones. Muscle pathology revealed autophagic vacuoles with sarcolemmal features, multilayered basal lamina with marked sarcolemmal deposition of C5-9 membrane attack complex and calcium, histologically indistinguishable from childhood-onset X-linked myopathy with excessive autophagy (XMEA). Haplotype analysis suggests that this new AVM and XMEA may be allelic despite different clinical presentations.
 ...
PMID:A new congenital form of X-linked autophagic vacuolar myopathy. 1621 76

Although linked with cardiac dysfunction, the association of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) and pulmonary artery hypertension (PAH) has not been previously described. PAH and right ventricular heart failure were identified by echocardiography in a 3-year-old boy with a history of hypotonia, microcephaly and developmental delay. He initially presented with a 10-day history of dyspnoea, dependent oedema and reduced oral intake. Lactic acidosis was noted on serial arterial blood sampling and cerebrospinal fluid. Muscle biopsy demonstrated cytochrome-c oxidase-positive 'ragged-red' fibres consistent with MELAS; subsequent analyses revealed the m.3243A>G point mutation most commonly associated with MELAS. The mutation was heteroplasmic, representing 92% of the total mtDNA from a lung sample. Nitric oxide and epoprostenol were administered without significant clinical or echocardiographic improvement of his PAH. A 'mitochondrial cocktail' including biotin, riboflavin, carnitine and coenzyme Q10 also was provided. Five months after presentation, he developed seizures; MRI imaging of his brain demonstrated multiple focal lesions. His clinical status worsened with increasing cardiopulmonary failure. He died two months later. Although therapy for both MELAS and PAH remains limited, recent investigations suggest a beneficial role for l-arginine in both conditions, implying a possible common pathophysiology. Mitochondrial diseases such as MELAS should be considered in cases of idiopathic PAH, particularly when associated with multisystem involvement including short stature, hearing loss, renal dysfunction, retinopathy, diabetes mellitus, migraines, seizures, ophthalmoplegia, fatigability and weakness.
...
PMID:Pulmonary artery hypertension in a child with MELAS due to a point mutation of the mitochondrial tRNA((Leu)) gene (m.3243A>G). 1818 Oct 29

This year marks 40 years since the technique was designed of measuring and monitoring the basic haemodynamic parameters in humans by means of impedance cardiography (ICG), also known as "impedance plethysmography of the chest", "electrical bioimpedance of the chest" or "reocardiography". The method makes it possible to denote stroke volume and cardiac output. It also enables the factors to be assessed that influence the following: preload (measurement of thoracic fluid content), afterload (measurement of systemic vascular resistance), the systemic vascular resistance index, contractibility (measurement of the acceleration index), the velocity index, the pre-ejection period, left ventricular ejection time, systolic time ratio and heart rate. Advances in hardware and software, including digital signal tooling and new algorithms, have certainly improved the quality of the results obtained. The accuracy and repeatability of the results have been confirmed in comparative studies with results obtained through invasive methods and echocardiography. Not only are haemodynamic changes monitored by means of ICG in intensive care units, in operating theatres and at haemodialysis stations, but repeated measurements also provide haemodynamic information during the treatment of patients with hypertension and heart failure and pregnant women with cardiological problems and gestosis. A single ICG investigation makes a great contribution to the basic information available about the circulatory system, which is helpful in the initial evaluation of patients in a severe general condition (for example in the admission room), and also makes it possible to make a swift diagnosis of the cause of complaints such as dyspnoea and hypotonia. A particular application of ICG is the assessment of haemodynamic parameters during the programming of atrioventricular and CRT pacemakers. Besides these uses, ICG is a valuable investigative tool. It is defect-free and does not have pulmonary artery pressure monitoring limitations. Moreover, it is not as time-consuming as echocardiography and the examination can be performed by trained technicians or nurses. (Cardiol J 2007; 14: 115-126).
 ...
PMID:Impedance cardiography: A valuable method of evaluating haemodynamic parameters. 1865 47

Prader-Willi syndrome is an uncommon multisystem genetic disorder caused by defects of chromosome 15 (15qll-ql3), often due to deletions or uniparental disomy The syndrome is characterized by neonatal hypotonia, dysmorphic facial features, short stature, motor and mental disabilities, behavioral changes, hyperphagia, precocious obesity and hypogonadotropic hypogonadism. We present a 17 year-old woman, with a previous genetic diagnosis of Prader-Willi syndrome and BMI of 74 Kg/m(2), that was admitted in anasarca, with marked cyanosis, dyspnea and oliguria. She presented high levels of blood urea, creatinine and aminotransferases, in addition to hyperkalemia and hyperuricemia. She had been in regular use of fluoxetine during the last six months, and evolved with severe high blood pressure and respiratory failure, which needed intensive care support. Moreover, sequels and clear signs of recent self-injuries were observed in her trunk, forearms and hands. The findings of morbid obesity, anasarca, self-injury, hyperuricemia and hypoxemia in Prader-Willi syndrome are emphasized.
 ...
PMID:Morbid obesity in an adolescent with Prader-Willi syndrome. 1954 50


<< Previous 1 2 3 Next >>