Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0851184 (thinning)
 11,252 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Mounier-Kuhn syndrome is a rare congenital abnormality characterized by atrophy or absence of elastic fibers and thinning of smooth muscle layer in the trachea and main bronchi. These airways are thus flaccid and markedly dilated on inspiration and collapsed on expiration. First- to fourth-order bronchi are affected. There is an increase in dead space, tidal volume and diminished clearing of secretions. The usual presentation is recurrent respiratory tract infections with a broad spectrum of functional impairment ranging from minimal disease with preservation of lung function to severe disease in the form of bronchiectasis, emphysema and pulmonary fibrosis, ultimately culminating in respiratory failure and death. A congenital connective tissue weakness, in combination with inhalation of irritants like cigarette smoke and air pollution, are raised as possible factors in the development of this syndrome. Eight cases of tracheobronchomegaly with its associated complications are reported. Computed tomography scan of the chest was used for the diagnosis of tracheobronchomegaly. Treatment is mainly supportive with chest physiotherapy and antibiotics; however, there are a few reported cases where insertion of a tracheal stent resulted in some success.
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PMID:Mounier-Kuhn syndrome: report of 8 cases of tracheobronchomegaly with associated complications. 1817 83

Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterised by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy.The incidence of X-linked myotubular myopathy is estimated at 2/100000 male births but epidemiological data for other forms are not currently available.The clinical picture is highly variable. The X-linked form usually gives rise to a severe phenotype in males presenting at birth with marked weakness and hypotonia, external ophthalmoplegia and respiratory failure. Signs of antenatal onset comprise reduced foetal movements, polyhydramnios and thinning of the ribs on chest radiographs; birth asphyxia may be the present. Affected infants are often macrosomic, with length above the 90th centile and large head circumference. Testes are frequently undescended. Both autosomal-recessive (AR) and autosomal-dominant (AD) forms differ from the X-linked form regarding age at onset, severity, clinical characteristics and prognosis. In general, AD forms have a later onset and milder course than the X-linked form, and the AR form is intermediate in both respects.Mutations in the myotubularin (MTM1) gene on chromosome Xq28 have been identified in the majority of patients with the X-linked recessive form, whilst AD and AR forms have been associated with mutations in the dynamin 2 (DNM2) gene on chromosome 19p13.2 and the amphiphysin 2 (BIN1) gene on chromosome 2q14, respectively. Single cases with features of CNM have been associated with mutations in the skeletal muscle ryanodine receptor (RYR1) and the hJUMPY (MTMR14) genes.Diagnosis is based on typical histopathological findings on muscle biopsy in combination with suggestive clinical features; muscle magnetic resonance imaging may complement clinical assessment and inform genetic testing in cases with equivocal features. Genetic counselling should be offered to all patients and families in whom a diagnosis of CNM has been made.The main differential diagnoses include congenital myotonic dystrophy and other conditions with severe neonatal hypotonia.Management of CNM is mainly supportive, based on a multidisciplinary approach. Whereas the X-linked form due to MTM1 mutations is often fatal in infancy, dominant forms due to DNM2 mutations and some cases of the recessive BIN1-related form appear to be associated with an overall more favourable prognosis.
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PMID:Centronuclear (myotubular) myopathy. 1881 72

This study examined the putative role of blood vessel pathology in the development of ascites in broilers. Major blood vessels (aorta, brachiocephalic arteries, pulmonary arteries, and vena cava) from normal commercial male broiler chickens, and broilers that developed congestive heart failure (CHF) with or without ascites were subjected to gross and microscopic examination. On cross-section, grossly, the arteries from normal broilers and those showing dilated cardiomyopathy without ascites appeared circular, with firm wall tone characteristic of the normal artery. In contrast, the arteries from ascitic broilers appeared flaccid and lacked elasticity, which was evidenced by collapsing, ellipsoid cross-sectional arterial lumen owing to the structural weakness of the arterial walls. Microscopically, ascitic broilers showed thinning or occasionally total loss of elastic elements in the arterial wall, and reduced network density of the structural matrix of the vascular wall, as well as increased thickness of fibers in vena cava. The structural changes seen in the major arteries from ascitic broilers are maladaptive, and as such would definitively impose an increased hemodynamic burden on the already failing heart pump. The changes in veins are indicative of pathological remodeling conducive to increased permeability of the vascular wall, particularly in the situation when a poorly distensible structure is further subjected to wall stress associated with increased pressure and volume overload. Taken together, increased hemodynamic burden and reduced structural density of the venous wall constitute conditions conducive for seepage and accumulation of ascitic fluid.
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PMID:Vascular remodeling and its role in the pathogenesis of ascites in fast growing commercial broilers. 1894 43

We present what we believe is the first reported case of synchronous osteochondroma and osteoblastoma, occurring in the proximal humerus of a young man. A 15-year-old boy presented with a painful left arm mass for 3 months. A firm mass was palpable in the proximal medial arm, and he had mild triceps weakness secondary to pain. Imaging showed an eccentric lesion involving the proximal one-third of the humerus, with central lysis, surrounding sclerosis and edema, endosteal scalloping, and cortical thinning and expansion. The humeral diaphysis contained a bony exostosis with corticomedullary continuity, consistent with an osteochondroma with a cartilage cap <5 mm thick. Within the proximal portion of the osteochondroma was a 2-cm, edematous, rim-enhancing cystic lesion, concerning for a secondary process such as malignant transformation. On open biopsy, the mass grossly appeared to be a sessile osteochondroma, and was removed with a rongeur. The cystic lesion was curetted out of the bone. Pathology confirmed that the raised lesion was an osteochondroma. The cystic lesion contained osteoblasts in a matrix of osteoid and immature bone, characteristic of an osteoblastoma. The multidisciplinary team agreed that this was an osteoblastoma within an exostosis. At follow-up, the patient's pain had fully resolved and radiographs showed good early healing. We wished to document the extraordinary, simultaneous existence of an osteochondroma and adjacent osteoblastoma in the proximal humerus of a young patient. Although similar in presentation, the tumors consist of cells of different origins, making the pathogenesis unclear.
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PMID:Concurrent osteochondroma and osteoblastoma of the proximal humeral shaft. 1922 29

Results of recent imaging studies and theoretical models suggest that the superior femoral neck is a location of local weakness due to an age-related thinning of the cortex, and thus the site of hip fracture initiation. The purpose of this study was to experimentally determine the spatial and temporal characteristics of the macroscopic failure process during a simulated hip fracture that would occur as a result of a sideways fall. Twelve fresh frozen human cadaveric femora were used in this study. The femora were fractured in an apparatus designed to simulate a fall on the greater trochanter. Image sequences of the surface events related to the fractures were captured using two high-speed video cameras at 9111 Hz. The videos were analyzed with respect to time and load to determine the location and sequence of these events occurring in the proximal femur. The mean failure load was 4032 N (SD 370 N). The first surface events were identified in the superior femoral neck in eleven of the twelve specimens. Nine of these specimens fractured in a clear two-step process that initiated with a failure in the superior femoral neck, followed by a failure in the inferior femoral neck. This cadaveric model of hip fracture empirically confirms hypotheses that suggested that hip fractures initiate with a failure in the superior femoral neck where stresses are primarily compressive during a sideways fall impact, followed by a failure in the inferior neck where stresses are primarily tensile. Our results confirm the superolateral neck of the femur as an important region of interest for future hip fracture screening, prevention and treatment research.
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PMID:During sideways falls proximal femur fractures initiate in the superolateral cortex: evidence from high-speed video of simulated fractures. 1952 29

The local lipid composition near a transmembrane helical peptide in mixed-lipid bilayers has been studied using a mixed molecular dynamics (MD) and configuration-bias Monte Carlo method that allows the lateral distribution of lipids to equilibrate much more quickly than is possible by diffusive mixing alone. Gramicidin-A peptide was embedded in bilayer mixtures of DMPC with either DDPC (shorter by four carbons per tail) or DSPC (longer by four carbons per tail) at 330 K to investigate the possibility of lipid sorting by tail length. Conventional MD simulations showed local thickening of the bilayer near the peptide in pure DDPC and local thinning of the bilayer in pure DSPC, with comparatively little perturbation to the thickness of pure DMPC bilayers, suggesting that DMPC has the best matched tail length to the peptide of these three. In 1:1 DMPC:DDPC mixtures, the DMPC lipid was weakly enriched (by about 5%) near the peptide, while in DSPC:DMPC mixtures, no consistent trend was observed. The results underscore the weakness of the coupling between membrane deformation and local composition fluctuations in the absence of spontaneous phase separation.
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PMID:Atomistic simulation of hydrophobic matching effects on lipid composition near a helical peptide embedded in mixed-lipid bilayers. 2050 1

Age-related loss of muscle mass and function greatly affects quality of life in the elderly population. Several hypotheses have been proposed but accumulating evidence point to alterations in neuromuscular system during aging as a key event that leads to functional denervation, muscle wasting, and weakness. Over the past few decades, age-associated degeneration of the neuromuscular junction (NMJ) and its components have been well documented. With advancing age, pre-terminal portions of motor axons exhibit regions of abnormal thinning, distension, and sprouting whereas postsynaptic endplates decrease in size and reduce in number, length, and density of postsynaptic folds. Although the exact underlying mechanisms are still lacking, recent studies provided direct evidence that age-associated increase in oxidative stress plays a crucial role in NMJ degeneration and progression of sarcopenia. Homozygous deletion of an important antioxidant enzyme, Cu,Zn superoxide dismutase (CuZnSOD, SOD1) leads to acceleration of age-dependent muscle atrophy, with a significant NMJ degeneration similar to that seen in old wild-type sarcopenic animals. In this short review, we briefly summarize the current understanding of some of the cellular and molecular changes in the NMJ during aging and suggest a role for oxidative stress and mitochondrial dysfunction in age-related changes in the maintenance of neuromuscular innervation.
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PMID:Age-associated alterations of the neuromuscular junction. 2085 87

A 46-year-old man experienced numbness and muscle weakness in the distal portions of both hands, which progressed over following three months. Neurological examination showed mild muscle weakness only in distal arms, hypoflexia or areflexia, and hypesthesia in glove and stocking distribution. Motor conduction study revealed markedly prolonged distal latency and abnormal temporal dispersion. Sensory nerve potentials were reduced or could not be recorded. Histopathlogical findings of the sural nerve showed several nerve fibers with thinning myelin sheath and mild reduction of myelinated fibers. These results suggested the diagnosis of chronic inflammatory demyelinating polyneuropathy (CIDP). Two weeks after intravenous immunoglobulin therapy, neurological deficits rapidly improved and electrophysiological abnormalities were also ameliorated. Thereafter, there was no clinical deterioration for two years without further treatment. Our patient suggested that immunomodulating treatment is needed for stopping the initial progression of neurological deficits, but maintenance therapy is not always necessary for keeping the remitting state in distal variant of CIDP.
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PMID:[Good response to intravenous immunoglobulin therapy in sensory dominant distal variant of chronic inflammatory demyelinating polyneuropathy]. 2182 6

Cushing's syndrome (CS) is associated with reduced life quality and increased mortality, mostly due to cardiovascular disease. The features of this syndrome are central obesity, moon facies, facial plethora, supraclavicular fat pads, buffalo hump, and purple striae. Other complications include hyperglycemia, hypertension, proximal muscle weakness, skin thinning, menstrual irregularities, amenorrhea and osteopenia. These make perioperative and anesthetic management difficult and present a challenge to the operating team, especially the anaesthesiologist. In this paper, we present two such cases of CS, which were treated with adrenalectomy. We aim to highlight the special care and precautions that need to be taken while administering anesthesia, and in the post operatory period. Anaesthesia induction in the two cases of CS was done prior to the adrenalectomy procedure and special pre and post operative care was taken. Continuous intra operative monitoring of vitals and checking for the stability of the haemodynamics was performed. With adequate care and using advanced anesthetic techniques, the patients showed uneventful post operative recovery. Though the anesthetic management of patients with CS is difficult, desired results can be achieved with continuous monitoring and special precautions.
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PMID:Cushing syndrome and the anesthesiologist, two case reports. 2189

Epilepsia partialis continua (EPC) is clinically defined as a syndrome of continuous focal jerking of a body part, usually a distal limb, occurring over hours, days, or even years. It is considered the status epilepticus equivalent of simple partial motor seizures. A 48-year-old right-handed man with a history of traumatic intracranial hemorrhage was admitted for right-sided hemiplegia and drowsiness after complex partial status epilepticus. An EEG showed periodic lateralized epileptiform discharges over the left hemisphere. Brain MRI revealed extensive multifocal encephalomalaciac changes in the left temporo-parieto-occpital lobe and both frontal lobes with some hemorrhagic residual change. After administration of a loading dose of intravenous phenytoin, his mental status returned to normal. However, his weakness only partially improved. [(18)F]Fluorodeoxyglucose PET (FDG-PET) demonstrated severe hypometabolism in the left cerebral hemisphere, including the basal ganglia and thalamus, with cerebellar diaschisis. At the 3-month follow-up, he complained of symptoms of alien hand phenomenon. Follow-up MRI revealed more extensive encephalomalaciac changes in previously noted regions with thinning of the posterior end of the body of the corpus callosum. Moreover, FDG-PET demonstrated persistent severe hypometabolism over the left cerebral hemisphere. We suggest that the alien hand phenomenon was a result of thinning of the corpus callosum related to EPC.
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PMID:Alien hand syndrome after epilepsia partialis continua: FDG PET and MRI studies. 2210 67


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