Cases reported "Muscular Diseases"

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1/40. Diaphragmatic cramp as a possible cause of noncardiac chest pain and referred mandibular pain.

    The initial assumption that sudden acute chest pain may be of cardiac origin is justifiable, but when this proves not to be the case the patient is left with little explanation of the cause. It is suggested here that diaphragmatic cramp may be a cause of some undiagnosed noncardiac chest pains associated with mandibular referred pain. The phrenic nerve provides both motor and sensory innervation to the diaphragm, while the trigeminal nerve carries sensation from the mandibular teeth. Both nerves originate in separate nuclei close together in the lower medulla. Interconnections between these nuclei and others higher up in the brain may provide one explanation for this problem.
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keywords = chest
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2/40. Type II neurofibromatosis presenting as quadriceps atrophy.

    A young woman aged 26 years presented with atrophy of the left quadriceps progressing over one year. magnetic resonance imaging (MRI) showed a large lesion of the lumbar plexus compatible with neurinoma. Cerebral MRI revealed a lesion in the right eighth cranial nerve also compatible with neurinoma. On further questioning of the patient, it was learned that her mother had undergone surgery twice for acoustic neurinoma. Type II neurofibromatosis was diagnosed from the basis of clinical picture, neuroimaging findings and family history. This case is unusual for the lack of central nervous system (CNS) symptoms. Expansive radicular lesions compatible with neurinoma should prompt cerebral MRI. Regular examination of family members at risk and early diagnosis can decrease the high mortality associated with this condition.
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ranking = 0.52356429415071
keywords = plexus
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3/40. Megacystis secondary to myenteric plexus pathology. Presentation of two cases.

    Herein, 2 cases of megacystis secondary to myenteric plexus pathology are reported. Unlike the entity of visceral myopathy, there was ganglion cell loss both in the bladder and in the colon of these 2 cases. Moreover, they did not present any gastrointestinal symptoms. Megacystis was the common pathology in these patients, whereas 1 of them suffered from unilateral vesicoureteral reflux. We could not find any similar report dealing with this phenomenon up to this time in the literature.
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ranking = 2.6178214707535
keywords = plexus
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4/40. Catamenial pneumothorax: chest X-ray sign and thoracoscopic treatment.

    We report the case of a 25-year-old woman with recurrent right-sided catamenial pneumothorax. At thoracoscopy, the diaphragm presented several violet implants with holes. The presence of diaphragmatic endometrial implants was confirmed at pathologic examination. Re-review of the preoperative chest x-ray film showed 8 x 5 and 1 x 1 mm bubbles at the level of the right diaphragm associated with the homolateral pneumothorax, thus suggesting that passage of air from the genital tract through the diaphragm was responsible for the pneumothorax. This may further clarify the pathogenesis of catamenial pneumothorax which remains controversial in the literature.
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ranking = 0.83333333333333
keywords = chest
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5/40. respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment.

    Mutations in desmin gene have been identified in patients with cardiac and skeletal myopathy characterized by intracytoplasmic accumulation of desmin-reactive deposits and electron-dense granular aggregates. We characterized two new desminopathy families with unusual features of adult-onset, slowly progressive, diffuse skeletal myopathy and respiratory insufficiency. Progressive reduction of respiratory muscle strength became clinically detectable between the 3rd and the 8th years of illness and led to recurrent chest infections and death in one of the patients. Novel mutations, A357P and L370P, predicted to introduce proline residue into a highly conserved alpha-helical region of desmin, were identified. proline is known to disrupt the alpha-helix. In addition, the A357P mutation distorts a unique stutter sequence that is considered to be critically important for proper filament assembly. Functional assessment in two cell-lines, one of which does and the other of which does not constitutively produce type III intermediate filaments, demonstrated the inability of mutant desmin carrying either the A357P or the L370P mutation to polymerize and form an intracellular filamentous network. The results of this study indicate that respiratory insufficiency is an intrinsic feature of disease associated with specific desmin mutations; in some patients, respiratory weakness may present as a dominant clinical manifestation and a major cause of disability and death.
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ranking = 0.16666666666667
keywords = chest
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6/40. Patterns of papillary muscle ischemia in myocardial PET.

    PURPOSE: Conventional nuclear medicine equipment lacks sufficient spatial resolution to reliably visualize the papillary muscles (PM). Positron emission tomography (PET), however, can adequately visualize these structures using various positron emitters. methods AND patients: We present various patterns of PM observed on myocardial PET imaging in 4 patients. These patterns demonstrate different pathologic conditions such as PM ischemia of varying severity, as well as hibernation, using both N-13 NH3 and F-18 FDG as perfusion and metabolic agents, respectively. These patterns of infarction, stress-induced myocardial ischemia, or hibernation can be identified in one or both PM using PET scanning. Normal PM visualization on chest F-18 FDG PET images is also presented. CONCLUSION: This report illustrates the potential ability of myocardial PET as a noninvasive modality to study the perfusion and metabolic abnormalities of the PM.
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ranking = 0.16666666666667
keywords = chest
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7/40. Cyclic sciatica caused by infiltrative endometriosis: MRI findings.

    endometriosis, an important gynecological disorder of reproductive women, affects most commonly the ovaries and less frequently the gastrointestinal tract, chest, urinary tract, and soft tissues. endometriosis classically appears on MRI as a mass with a large cystic component and variable signal intensities on T1- and T2-weighted images due to the presence of variable degradation of hemorrhagic products. endometriosis in an atypical location, an infiltrative appearance and without cystic-hemorrhagic components has rarely been described. We report on a 33-year-old woman with cyclic sciatica due to histologically documented infiltrative endometriosis involving the area of the left sciatic notch.
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ranking = 0.16666666666667
keywords = chest
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8/40. The combined otolaryngologic, orthopedic and thoracic approach to a massive fore-quarter tumor.

    A case report of a 32-year-old female with a massive chondrosarcoma is presented. The tumor involved the neck, shoulder and chest. A multidisciplinary approach involving an otolaryngologist, orthopedic surgeon and thoracic surgeon with their respective teams is shown to be efficacious in dealing with this difficult problem.
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ranking = 0.16666666666667
keywords = chest
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9/40. Spontaneous rupture of the diaphragm.

    A 42-year-old man was brought into the Accident and Emergency Department with epigastric discomfort and severe bradycardia. Computerized tomography of the chest revealed spontaneous rupture of the left hemidiaphragm with herniation of small bowel loops.
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ranking = 0.16666666666667
keywords = chest
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10/40. Laryngohyoid fractures after agonal falls: not always a certain sign of strangulation.

    Haemorrhagic fractures of the thyroid cartilage and hyoid bone are frequently observed in cases of strangulation and often regarded as evidence for an assault against the neck. In contrast, two cases of laryngohyoid fractures after agonal falls in prone position are presented to draw attention to alternative causes of these injuries with special regard to practical medicolegal casework. A 45-year-old man collapsed at a fairground and died after unsuccessful resuscitation. He showed excoriations at his elbows and right knee, a crush injury at the mentum and his mandibular front teeth were knocked out. The upper parts of the chest and the head showed blue discolouration as a marked sign of congestion due to heart failure. The right coronary artery (RCA) was completely obturated by a 5 cm long post-stenotic thrombus with subsequent myocardial infarction of the lateral part of the left ventricle. Both superior horns of the thyroid cartilage were fractured with surrounding haemorrhage, the skin and muscles of the neck uninjured. In the second case, a 63-year-old woman with a mobility handicap had fallen from a 2m high lifting platform and was found in prone position with her wheelchair on her. resuscitation efforts were not successful. autopsy showed signs of blunt external force against head, neck, chest and limbs. Examination of the neck revealed haemorrhage of the right sternocleidomastoid muscle, both superior horns of the thyroid cartilage were fractured, as well as the hyoid bone, with slight haemorrhage of the surrounding soft tissue and mucosa. On the same level, the fifth intervertebral disk was ruptured, without any injury of the spinal cord. These cases demonstrate that laryngohyoid fractures should not be overestimated as unequivocal indication of neck compression and may well be caused by falls, even at ground level.
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ranking = 0.33333333333333
keywords = chest
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