Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0032285 (pneumonia)
 54,520 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Among 848 cases of profound mental retardation with motor disturbance admitted to Metropolitan Medical Center of Severely Handicapped in the last 20 years, 98 died. The 94 cases whose cause of death was determined were clinically investigated. There was no difference in sex, and 72% of the patients died before the age of 15 years. Half of the patients died of pneumonia; sudden death occurred in 9, and ileus in 8. These three were thought to be the most important and characteristic causes of death in severely handicapped patients. In recent years, deaths due to pneumonia have decreased and those due to ileus have disappeared, but deaths due to malignant neoplasm have begun to be recognized. There were also some deaths from intracranial hemorrhage in young children, and some deaths from tracheal bleeding in those who had tracheal tubes. These two were also important causes of death in the patients. Sudden death had certain characteristics: most cases were adolescent or young patients with mixed quadriplegia who were sensitive to environmental changes and often showed marked hypertonia by athetosis, and in addition, all of their acute changes occurred between 5 and 8 a.m. or between 6 and 9 p.m.
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PMID:[A clinical study of death in profound mental retardation with motor disturbance]. 240 Jun 13

A recently observed case triggers an examination of Propafenone (P.) treatment of atrial flutter (AF). A review of the literature reveals that the question has not so far been sufficiently investigated. In fact only one paper reporting the inadequacy of P. in the treatment of certain forms of AF and atrial fibrillation caused by vagal hypertonia has apparently been published. The case presented here is of a 59 year old man with left bronchial pneumonia in a static phase and an ECG indicating AF. Treatment with P. in slow-release bolus form (2 mg/kg) converted the AF into sinus rhythm in the space of a few minutes. In the absence of any demonstrable cardiac pathology the condition in thought to have been caused by the patient's precarious metabolic status (hypoxaemia, sepsis).
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PMID:[A case of recent atrial flutter treated with intravenous propafenone]. 272 5

An 8 year old boy with ring chromosome 21 who was susceptible to sinorespiratory infections due to hypogammaglobulinaemia is reported. He presented with the characteristic features of monosomy 21 syndrome, such as psychomotor retardation, hypertonia, large saccular ears, prominent nasal bridge, micrognathia, thrombocytopenia, and patent ductus arteriosus. His serum IgG concentration was less than 1.5 g/l at 3 years and 6 months of age after repeated hospitalisations with pneumonia, otitis media, and convulsions. Regular replacement of intravenous gammaglobulin effectively reduced such infectious episodes. A predisposition to infection in patients with ring chromosome 21 may be explained by hypogammaglobulinaemia and merit treatment with gammaglobulin.
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PMID:Hypogammaglobulinaemia in a patient with ring chromosome 21. 937 Sep 8

Pontocerebellar hypoplasia type 1 is a rare disease characterized by pontocerebellar hypoplasia and anterior horn cell degeneration. The oldest reported child died at the age of 26 months. Two siblings were diagnosed with pontocerebellar hypoplasia type 1 after the death of the second sibling at 40 months of age from respiratory failure and the unexpected finding of anterior horn cell degeneration on her autopsy. The older sibling was a boy who was labeled as having cerebral palsy. He died at 14 months of age from pneumonia following a clinical course similar to his sister's, who was born 5 years after his death. Both siblings had significant global developmental delay with axial and peripheral hypotonia initially. Peripheral hypertonia with brisk reflexes developed later but were absent prior to death. Extensive investigations in the second sibling ruled out known metabolic (including congenital disorders of glycosylation) and mitochondrial diseases using skin fibroblast cultures and enzyme analysis. Genetic testing for Friedreich's ataxia; neuropathy, ataxia, and retinitis pigmentosa (NARP); spinal muscular atrophy; and spinocerebellar ataxia type 1, 2, 3, 6, 7, and 8 gene abnormalities was negative. The elecroretinogram showed a previously unreported finding of abnormal and progressive rod/cone response. Our cases provide clinical and previously unreported electroretinographic evidence for neurodegeneration in pontocerebellar hypoplasia type 1 and call for the expansion of the disease phenotype.
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PMID:Pontocerebellar hypoplasia type 1: new leads for an earlier diagnosis. 1273 47

We report a case of a 40-year-old man presenting with relapsing encephalopathy 4 years post-intestinal transplantation. Each episode was preceded by symptoms suggestive of subacute intestinal obstruction, marked dehydration, and, on one occasion, grade 4 encephalopathy. Physical examination revealed hypertonia, clonus, and hyperreflexia. Biochemistry was consistent with renal impairment, metabolic alkalosis, hyperammonaemia, and normal liver function. Plain radiographs and abdominal computed tomography revealed dilated proximal small bowel loops, and barium radiography demonstrated a strictured distal anastomosis. Hydrogen breath testing indicated bacterial overgrowth. Following rehydration and antibiotic therapy, the patient recovered fully between episodes. Further episodes of encephalopathy did not recur following resection of the distal anastomotic stricture and resolution of bacterial overgrowth. Unfortunately, one year later the patient died of pneumonia. To the best of our knowledge, encephalopathy secondary to intestinal transplant related porto-caval shunt and bacterial overgrowth in strictured bowel has not been previously reported but might have implications for the management of future patients.
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PMID:Relapsing encephalopathy following small bowel transplantation. 1282 21

In 21 patients with severe motor and intellectual disabilities, bronchofiberoptic intubation was performed because of difficulty in tracheal intubation by direct laryngoscopy. The patients ranged from 3 to 35 years old (mean age: 20.2 years). Twenty patients (95.2%) were bedridden. Among the 21 patients, 15 had cerebral palsy and 20 had hypertonia. The reason for intubation were acute respiratory failure due to pneumonia in 17 cases, suffocation after aspiration of food in 2 cases, hypovolemic shock in 1 case, and laryngotracheomalacia in 1 case. Intubation was done pernasally in 15 patients and perorally in 10. It was successful in 20 cases without any significant complications. The Cormack score ranged from 3rd degree in 4 cases to 4th in 17 cases. The 20 cases of successful fiberoptic intubation were divided into 7 patients with and 13 without tracheostomy. The mortality rate was 14.3% in patients with tracheostomy and 30.8% in those without tracheostomy. When more than 4 intubation trials were needed, there was a significantly higher mortality rate. In neurologically handicapped patients with deformity or hypertonia of the oral, cervical, or airway structures, a bronchofiberoptic procedure may be recommended when there is difficulty with intubation.
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PMID:[Usefullness of bronchofiberscopy for difficult intubation in patients with severe motor and intellectual disabilities]. 1629 54

Homozygous frameshift BRAT1 mutations were found in patients with lethal neonatal rigidity and multifocal seizure syndrome (MIM# 614498). Here, we report on two siblings with compound heterozygous mutations in BRAT1. They had intractable seizures from neonatal period, dysmorphic features and hypertonia. Progressive microcephaly was also observed. Initial electroencephalogram showed a suppression-burst pattern, leading to a diagnosis of Ohtahara syndrome. They both died from pneumonia at 1 year and 3 months, respectively. Whole-exome sequencing of one patient revealed a compound heterozygous BRAT1 mutations (c.176T>C (p.Leu59Pro) and c.962_963del (p.Leu321Profs*81)). We are unable to obtain DNA from another patient. The p.Leu59Pro mutation occurred at an evolutionarily conserved amino acid in a CIDE-N (N-terminal of an cell death-inducing DFF45-like effector) domain, which has a regulatory role in the DNA fragmentation pathway of apoptosis. Our results further support that mutations of BRAT1 could lead to epileptic encephalopathy.
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PMID:Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly. 2531 49