pulmonary fibrosis/epileptische aanval

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Kenny Caffey syndrome with severe respiratory and gastrointestinal involvement: expanding the clinical phenotype.

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Kenny Caffey syndrome (KCS) is a rare syndrome reported almost exclusively in Middle Eastern populations. It is characterized by severe growth retardation-short stature, dysmorphic features, episodic hypocalcaemia, hypoparathyroidism, seizures, and medullary stenosis of long bones with thickened

Transgenic mice with a mutated collagen promoter display normal response during bleomycin-induced fibrosis and possess neurological abnormalities.

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We have previously identified a potential TGF-beta activation element (TAE) in the rat collagen alpha1(I) promoter at -1624 upstream of the transcriptional start site [Ritzenthaler et al., 1991, 1993]. To determine the importance of the TAE in vivo, we produced transgenic mice carrying 3.6 kb of the

[Anti-influenza vaccination in children].

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Due to new methods, including genic recombination, four anti-influenza vaccines are now available: whole inactivated virus vaccine; surface antigen (sub-unit); disrupted virus (split virus); live attenuated virus (used only in the USSR). The safest vaccine at the present time is the split vaccine,

A family showing recessively inherited multisystem pathology with aberrant splicing of the erythrocyte Band 7.2b ('stomatin') gene.

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The case of a French child, born of consanguineous parents of Tunisian origin, is described. He showed a severe multisystem disease with dyserythropoietic, sideroblastic anaemia, delayed neurological development with hypotonia and convulsions, salt-losing nephropathy, chronic watery diarrhoea,

[The manifestations of the nervous system in primary Sjogren syndrome].

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We reported 9 cases of primary Sjogren syndrome (SS) who were complicated with nervous system involvement. All were women. Age between 24 to 58 years old. Their clinical symptoms of the nervous system varied widely, 7 of them manifested with the involvement of central nervous system, the main

Glomerulocystic kidney in a domestic dog.

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Glomerulocystic kidney was diagnosed in a 5-year-old female Shiba dog, which died from chronic renal failure with convulsions, vomiting and diarrhoea. Haematological examination revealed non-regenerating anaemia, azotaemia and high serum creatinine. Grossly, both kidneys were mildly atrophic with

Renal transplantation for infantile cystinosis: long-term follow-up.

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Renal transplantation for infantile cystinosis corrects renal failure and prolongs survival. However, after transplantation, the disease may develop in the allograft and continue to progress in nonrenal organs. We studied seven children (6 boys, 1 girl) with infantile cystinosis who received 11

[A female infant of mitochondrial myopathy with findings of active necrosis and regeneration of muscle fibers].

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An 8 year-old female infant with the clinical and pathological characteristics of both progressive muscular dystrophy and mitochondrial myopathy was described. Her maternal cousin had clinical and pathological findings of Duchenne muscular dystrophy (DMD). Since the patient had markedly elevated

Hyperammonemia Presenting as Refractory Status Epilepticus after Lung Transplant in a Patient Positive for Ureaplasma parvum.

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Hyperammonemia is a rare complication of lung transplant with a high mortality rate. It presents as encephalopathy and progresses to seizures, status epilepticus, coma, cerebral edema, and brain death. Multiple treatments have been documented including administration of medications, gut

Toxicology and carcinogenesis studies of bis(2-chloroethoxy)methane (CAS No. 111-91-1) in F344/N rats and B6C3F1 mice (dermal studies).

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Bis(2-chloroethoxy)methane is used as a solvent and the starting agent in the production of fungicides and polysulfide polymers. Bis(2-chloroethoxy)methane was nominated for study by the National Institute of Environmental Health Sciences because of its widespread use as a starting material to

Long-term survivors of childhood malignancies--aeromedical dilemmas and implications.

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Survival rates from childhood cancer have dramatically improved over the past three decades; average overall 5-yr survival rates are now > 75%. However, this has been achieved by treatments associated with significant morbidity that may present many years later. This review seeks to delineate the

Oxygen Toxicity and Special Operations Forces Diving: Hidden and Dangerous.

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In Special Operations Forces (SOF) closed-circuit rebreathers with 100% oxygen are commonly utilized for covert diving operations. Exposure to high partial pressures of oxygen (PO2) could cause damage to the central nervous system (CNS) and pulmonary system. Longer exposure time and higher PO2 leads

Meningitis due to Streptococcus equi in a 73 year old woman with an osteodural defect

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Meningitis caused by Streptococcus equi (SE) is a rare disease associated with high rates of complications. Commonly identified risk factors are regular horse contact and consumption of unpasteurized dairy products. When diagnosed promptly, this infection can be cured. We report the case of a

Pulmonary Hypertension and Polycythemia Secondary to Pulmonary Alveolar Microlithiasis Treated with Sequential Bilateral Lung Transplant: A Case Study and Literature Review.

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BACKGROUND Pulmonary alveolar microlithiasis is an autosomal recessive disease in which a mutation in the SLC34A2 gene that codes for a sodium phosphate type IIb transporter protein (expressed in human epithelial tissues and functions in the clearance of phosphate ions) leads to the formation of

Clinical associations of renal involvement in ANCA-associated Vasculitis.

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Renal involvement in anti-neutrophil cytoplasm antibody (ANCA)-associated vasculitis is associated with significant morbidity and higher mortality rates. This study examined clinical manifestations associated with renal involvement in ANCA-associated vasculitis within a large,

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