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Query: UMLS:C0231835 (tachypnea)
 2,543 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A newborn female child with hypothermia, tachypnoea and poor Agpar scores was demonstrated to have absent septum pellucidum, partial agenesis of the corpus callosum and misshapen left lateral ventricle on ultrasound examination. Fundoscopic examination noted hypoplastic optic discs. Given the appropriate clinical setting and fundoscopic examination, cranial ultrasound can be the preliminary evaluation for septo-optic dysplasia and related anomalies in infants with open fontanelles.
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PMID:Ultrasound evaluation of septo-optic dysplasia in the new born. Report of a case. 354 Jul 12

Five children with features of Joubert's syndrome and Leber's amaurosis are described. The presenting symptoms were panting tachypnoea in the newborn, prolonged apnoeic attacks in the neonatal period (in both of identical twins), global developmental delay, and failure to develop vision. Three children had multiple hemifacial spasms, such as have been seen in Joubert's syndrome, and the same three had cystic dysplasia of the kidneys. Necropsy confirmed the retinal and renal pathology, together with agenesis of the vermis and brainstem dysgenesis in the identical twins. It is concluded that a gene for Leber's amaurosis may commonly manifest itself as the specific hind brain malformation underlying Joubert's syndrome. In infants with respiratory irregularities (especially rapid panting), hemifacial spasms, or developmental delay, absence of the cerebellar vermis should be specifically sought by ultrasound and computed tomography, and the electroretinogram measured, whether or not impaired vision is clinically evident.
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PMID:Joubert's syndrome with retinal dysplasia: neonatal tachypnoea as the clue to a genetic brain-eye malformation. 647 67

A pediatric patient is reported who experienced fatal progressive pulmonary fibrosis as a complication of 1,3-bis(2-chloroethyl)-1-nitrosourea (BCNU) therapy. The patient received a cumulative dosage of 1.29 g (1.72 g/m2) over a two-year period as adjuvant therapy for a medulloblastoma. Two and one-half years after cessation of therapy, cough, tachypnea and fatigue were noted. Progressive pulmonary insufficiency developed. Pulmonary pathologic findings included interstitial fibrosis and alveolar dysplasia. Other cases of BCNU pulmonary toxicity are cited from the medical literature.
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PMID:Pulmonary fibrosis: a complication of 1,3-bis(2-chloroethyl)-1-nitrosourea (BCNU) therapy. 727 34

We report the case of a mature newborn infant, which aroused attention 8 hours after birth due to an unexplainable paroxysmal tachypnea together with subsequently prolonged apnea. The combination of tachypnea, athetoid movement patterns, apraxia of the tongue, nystagmus and dysplasia of the cerebellum with dilation of the 4th ventricle, led to the diagnosis of Joubert-Syndrome. The child also showed a variation of a connatal unilateral facial nerve palsy, which has not previously been described in connection with a Joubert-Syndrome.
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PMID:[Joubert syndrome combined with unilateral facial paralysis: a rare variant of Joubert syndrome]. 779 18

Four polygraphic recordings were obtained in three cases of Moebius syndrome. The cases were a 4-month-old girl (Case 1), a 4-year-old boy (Case 2), and a 5-year-old girl (Case 3). The recordings revealed that in all three cases there was a lack of rapid eye movements to the lateral side, continuous low amplitude on chin EMG, and continuous tachypnea. In Case 3, polygrams were recorded at 2 and 5 years of age, both records showing the same pattern of tachypnea. Arterial blood gas analysis (AGA), PH, PaCO2 and PaO2 were found to be within normal limits. It has been assumed that this syndrome includes brainstem dysplasia, according to the chief symptoms, and autopsy and auditory brainstem response (ABR) findings. ABR examination showed low amplitude of waves, a prolonged wave I-V interval, and the absence of wave V. It is known that there is a close relationship between this syndrome and respiratory disorders. But there have only been a few reports on respiratory disorders in this syndrome. It is strongly believed that continuous tachypnea is an important symptom of Moebius syndrome.
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PMID:Moebius syndrome: continuous tachypnea verified by a polygraphic study. 813 77

A seven-month-old male Siberian husky was presented with a recent history of anorexia, hindlimb weakness and syncope. Physical examination revealed severe tachycardia, tachypnoea and dyspnoea. Mucous membranes were pale and femoral pulses were weak. An electrocardiogram showed sustained ventricular tachycardia with a left bundle branch block configuration. Thoracic radiographs revealed slight right ventricular enlargement and two-dimensional echocardiography revealed mild right ventricular dilation at the cardiac apex and some hyperechogenic areas on the right side of the interventricular septum. Administration of intravenous lignocaine converted the ventricular tachycardia to sinus rhythm. The maintenance antiarrhythmic therapy consisted of oral procainamide and propranolol. Three weeks later the dog died suddenly. On postmortem examination, the right ventricular free wall was very thin at the apex, infundibulum and caudal aspect of the right ventricular parietal wall, similar to the 'triangle of dysplasia' of human patients. Histopathological examination revealed replacement of several areas of right ventricular free wall myocardium with connective tissue and fat. The right atrium and left ventricle were less severely affected by the same lesions. The clinical and pathological findings are similar to those reported in young people with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
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PMID:Arrhythmogenic right ventricular dysplasia/cardiomyopathy in a Siberian husky. 1130 56

A 3.75-year-old castrated male Chesapeake Bay Retriever was referred for evaluation of tachypnea, exercise intolerance, and cyanosis. Echocardiographically, there was severe tricuspid stenosis and right-to-left atrial-level shunting of blood. Marked compensatory polycythemia had developed; the PCV was 75%. Balloon dilation of the tricuspid stenosis was performed. Subsequent echocardiographic examinations demonstrated a reduction in the pressure gradient across the tricuspid valve. The PCV returned to the reference range, and the dog's clinical status improved during the 12 months after the procedure. Tricuspid stenosis is an uncommon lesion in dogs and, in the dog of this report, was assumed to have resulted from tricuspid dysplasia. Cyanosis was a result of right-to-left shunting of blood. Limited treatment is available for dogs with cyanotic heart disease. In this dog, balloon dilation of the stenotic tricuspid valve was palliative.
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PMID:Balloon valvuloplasty for palliative treatment of tricuspid stenosis with right-to-left atrial-level shunting in a dog. 1186 Feb 45

Methyl bromide is widely used as a fumigant and pesticide. Toxicology and carcinogenesis studies were conducted by exposing groups of male and female B6C3F1 mice to methyl bromide (99.8% pure) by inhalation 6 hours per day, 5 days per week, for 14 days, 6 weeks, 13 weeks, or 2 years. Six-week and 13-week inhalation toxicity studies in F344/N rats were conducted concurrently with the mouse studies. Hematology parameters were measured during the 6-week, 13-week, and 2-year studies. Quantitative neurobehavioral testing was performed during the 14-day, 13-week and 2-year studies. Genetic toxicology studies were conducted for gene mutation induction in Salmonella typhimurium and for induction of sister chromatid exchanges in mouse bone marrow cells and of micronuclei from peripheral blood erythrocytes. 14-Day Studies: Groups of five B6C3F1 mice of each sex were exposed to 0, 12, 25, 50, 100, or 200 ppm methyl bromide by inhalation 6 hours per day, 5 days per week for 2 weeks. Only four female mice and one male mouse survived 10 exposures at 200 ppm. No deaths occurred at the lower doses. Neurobehavioral effects including trembling and paralysis were noted in all groups, but were most pronounced in the three highest dose groups. Red urine was noted in the mice exposed to 200 ppm. 13-Week Studies : Groups of 10 mice of each sex were exposed to 0, 10, 20, 40, 80, or 120 ppm methyl bromide by inhalation 6 hours per day, 5 days per week for 13 weeks. Additional groups of eight to 17 mice were concurrently exposed for neurobehavioral and genetic toxicology studies. The final mean body weight of males exposed to 120 ppm was significantly (12%) lower than that of the controls. Four of 24 males exposed to 120 ppm died during the study. Groups of 10 rats of each sex were exposed to 0, 30, 60, or 120 ppm methyl bromide by inhalation 6 hours per day, 5 days per week for 13 weeks. Additional groups of eight rats were concurrently exposed for neurobehavioral studies. Final mean body weights of rats exposed to 120 ppm were 12% lower than those of the controls for males and 13% lower for females. No rats died as a result of methyl bromide exposure during the studies. Special 6-Week Target Organ Toxicity Studies: Neither the 14-day nor the 13-week studies provided strong evidence for specific organ toxicity. Six-week studies were therefore conducted to identify target organs for the 2-year studies. Groups of 20 rats and mice of each sex were exposed to methyl bromide by inhalation for 6 hours per day, 5 days per week for 6 weeks at a dose of 160 ppm. Mortality rates exceeded 50% in the male mice after eight exposures, in female mice after six exposures, and in male rats after 14 exposures. Only the female rat group survived 30 exposures with less than 50% mortality. The study identified the brain, kidney, nasal cavity, heart, adrenal gland, liver, and testis as the primary organs to examine for toxicity in the 2-year methyl bromide inhalation studies. 2-Year Studies: Groups of 70 B6C3F1 mice of each sex were exposed to methyl bromide by inhalation at 0, 10, 33, or 100 ppm for 6 hours per day, 5 days per week for up to 103 weeks. Additional groups of 16 mice were included for neurobehavioral evaluations throughout the 2-year studies. By 20 weeks (139 days), 27 males and 7 females exposed to 100 ppm had died and methyl bromide exposure was discontinued for the remaining mice in this dose group. Ten female mice from the 100 ppm group predesignated for the 15-month interim evaluation were killed on schedule and all other high-dose animals were allowed to live to term (24 months) for evaluation of chronic toxicity and carcinogenicity. Clinical signs indicative of neurotoxicity, including tremors, abnormal posture, tachypnea, and hind leg paralysis, persisted in these high-dose mice until the end of the studies. Final mean body weights of surviving 100 ppm males and females were markedly lower (33% and 31%) than those of the controls. Neurobehavioral changes occurred in male and female mice initially exposed to 100 ppm methyl bromide, with more prnitially exposed to 100 ppm methyl bromide, with more pronounced changes observed in males. In general, these animals were less active and manifested a heightened sensitivity in the startle response than mice in other dose groups. Exposure to methyl bromide was not carcinogenic under the conditions of these studies. However, there was an increase in the incidence of several nonneoplastic lesions in the brain, heart, bone (sternum), and nose. Degenerative changes in the cerebellum and cerebrum occurred in males and females exposed to 100 ppm. Myocardial degeneration and cardiomyopathy were observed in the hearts of mice exposed to 100 ppm. An increased incidence of sternal dysplasia was seen in treated animals, particularly in those exposed to 100 ppm. An increased incidence of olfactory epithelial necrosis and metaplasia within the nasal cavity was seen in the mice exposed to 100 ppm, particularly males. Genetic Toxicology: Methyl bromide was positive for induction of gene mutations in Salmonella typhimuriumstrain TA100, with and without exogenous metabolic activation; negative results were obtained with TA98 in this assay. In vivo, methyl bromide induced sister chromatid exchanges in bone marrow cells and micronuclei in peripheral erythrocytes of female mice exposed by inhalation for 14 days. No significant increase in either sister chromatid exchanges or micronuclei was observed in male or female mice exposed to methyl bromide by inhalation for 4, 8, or 12 weeks. Conclusions: Under the conditions of these 2-year inhalation studies, methyl bromide caused degenerative changes in the cerebellum and cerebrum, myocardial degeneration and cardiomyopathy, sternal dysplasia, and olfactory epithelial necrosis and metaplasia. Toxic effects persisted although exposure to methyl bromide in the 100 ppm group terminated after 20 weeks. There was no evidence of carcinogenic activity of methyl bromide in male or female B6C3F1 mice exposed to 10, 33, or 100 ppm. Synonym: Bromomethane
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PMID:NTP Toxicology and Carcinogenesis Studies of Methyl Bromide (CAS: 74-83-9) in B6C3F1 Mice (Inhalation Studies). 1263 59

Joubert syndrome is a rare genetic disorder characterised by dysplasia of the cerebellar vermis and a malformed brainstem causing ataxia, tachypnoea, nystagmus, hypotonia and mental retardation. An early case of a two-month-old infant presenting with the symptoms mentioned above with the diagnosis of Joubert syndrome is presented here. MRI revealed characteristic "molar tooth" appearance of superior cerebellar peduncles. This case is unusual as it was diagnosed in early infancy.
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PMID:Joubert syndrome: a major brain malformation. 1817 93

Achondroplasia and hypochondroplasia are two of the most common forms of skeletal dysplasia. They are both caused by activating mutations in FGFR3 and are inherited in an autosomal dominant manner. Our patient was born to parents with presumed achondroplasia, and found on prenatal testing to have p.G380R and p.N540K FGFR3 mutations. In addition to having typical problems associated with both achondroplasia and hypochondroplasia, our patient had several atypical findings including: abnormal lobulation of the lungs with respiratory insufficiency, C1 stenosis, and hypoglycemia following a Nissen fundoplication. After his reflux and aspiration were treated, the persistence of the tachypnea and increased respiratory effort indicated this was not the primary source of the respiratory distress. Our subsequent hypothesis was that primary restrictive lung disease was the cause of his respiratory distress. A closer examination of his chest circumference did not support this conclusion either. Following his death, an autopsy found the right lung had 2 lobes while the left lung had 3 lobes. A literature review demonstrates that other children with achondroplasia-hypochondroplasia complex have been described with abnormal pulmonary function and infants with thanatophoric dysplasia have similar abnormal pulmonary anatomy. We hypothesize that there may be a primary pulmonary phenotype associated with FGFR3-opathies, unrelated to chest size which leads to the consistent finding of increased respiratory signs and symptoms in these children. Further observation of respiratory status, combined with the macroscopic and microscopic analysis of pulmonary branching anatomy and alveolar structure in this patient population will be important to explore this hypothesis.
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PMID:Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomy. 2288 19


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