Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Chiari I malformation occurs when the cerebellar tonsils herniate downward through the foramen magnum into the upper cervical spinal canal. If the posterior fossa craniectomy during corrective surgery leads to excessive enlargement of the foramen magnum, the complication of cerebellar ptosis may result. To treat this difficult problem a posterior cranial fossa box expansion was devised and studied. Patients who developed symptomatic cerebellar ptosis (confirmed by MRI) following cranial vault decompression for Chiari I malformations underwent a posterior fossa box expansion (n=7). This procedure involved coverage of posterior aspect of the enlarged foramen magnum with a split-thickness calvarial bone graft box. The box reconstruction provided separation between the neck musculature, soft tissues from the neural tissue; prevention of cerebellar prolapse; and expansion of the posterior cranial vault. Patients had a mean of 12+/-1 months between initial suboccipital craniectomy and confirmation of symptomatic cerebellar ptosis. Mean age at the time of posterior fossa box reconstruction was 31+/-9 years (range of 14 to 44 years). Preoperative symptoms of headache (7/7, 100%), upper extremity numbness (5/7, 71%) or paresthesias (3/7, 43%), respiratory disturbance (2/7, 29%) and inability to walk (2/7, 29%) improved in all patients postoperatively. At more than 12 month follow-up 6/7 patients (86%) were both disease-free (MRI confirmation) and symptom-free. One out of seven patients had return of headache in a more mild form. Thus, in our patient group the posterior fossa box reconstruction led to resolution of symptomatic cerebellar ptosis following Chiari I malformation repair.
 ...
PMID:Posterior cranial fossa box expansion leads to resolution of symptomatic cerebellar ptosis following Chiari I malformation repair. 1741 75

The subperiosteal face-lift is a procedure designed to rejuvenate the middle third of the face. We present in this study the technical procedure we have developed, based on the subperiosteal detachment of the soft tissues of the midface and their attachment to the deep temporal fascia with a vertical vector of suspension. We reviewed 69 patients who undergone superiosteal temporomalar rhytidectomy, between March 2002 and January 2006, ranged in age from 42 to 65 years (mean 46). All of the patients presented preoperatively prominents nasolabial folds, malar fat pad ptosis. None of them presented a cervical soft tissue ptosis. The mean follow-up period was 32 months. The postoperative complication rate was 11.5 percent and included transient temporal branch weakness (N=4), transient infraorbital nerve paresthesia (N=1), asymmetrical result (N=1); scleral show (N=1) and ectropion (N=1) which required a secondary surgery. The overall aesthetic results were good; with attenuation of the prominent nasolabial folds in 100 percent and diminution of the height of the lower eyelid in 80 percent of the patients. In conclusion, the subperiosteal midace lift is a procedure designed to rejuvenate the middle third of the face.
 ...
PMID:[Subperiostal temporomalar lifting]. 1759 Apr 93

Strokes identified in older children typically present with sudden hemiparesis, frequent association with seizures, and occasional accompaniment of hemisensory signs or visual field defects. In this case of a left cerebral peduncle infarction, initially the patient was not found with evident right-side hemiparesis but with right-side paresthesia and mild worsening of her underlying left-side weakness, including weakness of left facial expression and left ptosis. Her right limbs became gradually weaker in the first 2 days. These bizarre clinical presentations, the mild worsening of the underlying left-side weakness, and the delayed presentation of right-side hemiparesis added to the difficulty of making a diagnosis and of the initial localization. In addition, the magnetic resonance angiography incidentally found an abnormal vessel, which was additional and serpiginous to the right posterior fossa. The right internal carotid artery was markedly smaller than the left one, and a defect was seen around the area of the presumed distal right internal carotid artery. The abnormal cerebral vasculature might be the cause of the unique clinical presentation and might be the contributing factor to the recurrence of her stroke. In conclusion, the authors report a special case of recurrent stroke on the basis of aberrant cerebral vasculature.
 ...
PMID:Acute midbrain infarction in a child with intracranial carotid artery hypoplasia and aberrant cerebral vasculature: a case report. 1762 31

Guillain-Barre syndrome (GBS) is an acquired immune-mediated inflammatory disorder of the peripheral nervous system. GBS is also called acute idiopathic polyradiculoneuritis. Cranial nerves are affected in over 50% of all cases, with the facial nerves being affected the most. Otherwise, oculomotor nerves affection is rare and might occur in about 10% of cases. In this case report we present 61 years old female with GBS (acute motor and sensory axonal neuropathy subtype) associated with bilateral oculomotor nerve palsy. At the admittance in the neurological status were flaccid paraplegia, tendon reflexes absent at legs and reduced at arms, sensory disturbances in a distal (stocking-glove) distribution and bilateral ptosis. The disease was diagnosed on clinical features, nerve conduction velocity test (NCV), electromyogram (EMG) and cerebrospinal fluid (CSF) tests. After treatment with intravenous immunoglobulins and physical treatment the patient improved. She was able to walk by her own, mild semiptosis remained and she had no paresthesia.
 ...
PMID:Bilateral oculomotor nerve palsy in Guillain-Barre syndrome. 1866 37

Endocrine orbitopathy is a systemic complex disease that involves the orbital contents. The symptoms are exophthalmos and correlated. The surgical techniques used to correct this condition can be fat decompression by the Olivari technique, 3-wall bony decompression, or the combination of these 2 surgical strategies, the ancillary procedure. Fat decompression is indicated when the intraconal and extraconal fat tissue is increased, whereas bony decompression is used in the presence of extraocular muscle involvement, associated with a normal quantity of intraconal-extraconal fat. Surgical techniques include the transconjunctival approach and ostectomy of the medial wall (when possible through endoscopy), orbital floor, and lateral wall of the orbit.Complications of this type of intervention are often represented by sensitivity disorders of the second branch of the trigeminal nerve, compressed by the intraorbital contents when they prolapse into the sinus. Possible sensitivity disorders are paresthesia, anesthesia, hypoaesthesia, dysesthesia, and hyperesthesia.The innovation introduced by the first author in 2007 consists of a mini ostectomy around the infraorbital foramen with removal of bone fragment. This determines relaxation of the nerve and makes easier the descent toward the sinus, allowing a larger expansion of the orbit contents. The absence of compression significantly reduces the sensitive complications. After treatment of the basic disease, surgical indications should be given according to the Werner classification. Fat decompression with the coronal approach is almost entirely abandoned for the transconjunctival approach, which allows adequate exposure of the lower orbit.The use of mini ostectomy of the infraorbital foramen combined with a 3-wall bony expansion showed a significant reduction of sensitive complications that often cause patient discomfort.
 ...
PMID:New mini-osteotomy of the infraorbital nerve in bony decompression for endocrine orbitopathy. 2007 6

A young girl was admitted for fever, headache, paresthesia of the hands, involuntary blinking of the left eye and aphasia. Imaging revealed mycotic cerebral aneurysms and finally infective endocarditis was diagnosed and successfully treated with daptomycin. She had a history of mitral prolapse and she had undergone dental procedures some months before without any antibiotic prophylaxis, according to the 2007 guidelines of the American Heart Association.
...
PMID:A case of endocarditis with cerebral embolism successfully treated with daptomycin. 2476 92

Miller Fisher syndrome (MFS), variant of acute inflammatory demyelinating polyradiculoneuropathy, is recognized as clinical triad (ophthalmoplegia-ataxia-areflexia). Ganglioside antibodies play an important role in the pathogenesis of acute polyradiculoneuropathy including MFS. To our knowledge, there has been no report of MFS presenting with atypical alternating ptosis or with concurrent elevation of serum GD1 and asialo-GM1 antibody titers, and negative titers of GQ1b antibody such as our patient. Our objective is to report MFS with unusual symptoms and to share our diagnostic approach. We report a rare case of MFS presenting with alternating eyelid ptosis, paresthesia, and ataxia after a respiratory infection. Initial neurological examination revealed left eyelid ptosis, hyporeflexia, positive Romberg sign, and ataxia. The ice pack test was negative. Three days later, contralateral ptosis was observed, associated with areflexia and worsened ataxia. However, there was significant improvement of the previous left eyelid ptosis. Serology revealed elevated asialo-GM1 and GD1b antibodies. Acetylcholine receptor antibodies were negative. Cerebral spinal fluid revealed elevated IgG index. Nerve conduction studies (NCS) performed four days after the onset of symptoms showed normal nerve conduction velocities and F-waves, and absent bilateral H-reflexes. Repetitive nerve stimulation (3 Hz) showed no decrement of compound muscle action potentials. Trial with a single dose of pyridostigmine showed no clinical improvement. The symptoms resolved without intervention. NCS 18 days after onset of symptoms showed mildly prolonged F-waves and absent H-reflexes. This case highlights an atypical presentation of MFS and raises the awareness of a rare autoantibody associated with it.
...
PMID:Alternating ptosis associated with asialo-GM1 and GD1b antibodies. 2671 Sep 25

We report a 63-year old patient who presented to our care initially with a hypernasal voice followed by ataxia, ptosis, dysphonia, and paresthesias. The patient's history, physical examination, and additional tests led to a Miller Fisher syndrome (MFS) diagnosis. Palatal paralysis as an inaugurating manifestation of MFS is quite rare and requires special attention from neurologists and otolaryngologists. Although it may present as benign as an acute change in voice, early diagnosis and prompt management may prevent further complications.
 ...
PMID:Miller Fisher syndrome presenting as palate paralysis. 2760 85

51-year-old female who presented with progressive paresthesia, numbness of the lower extremities, double vision, and trouble walking. Physical exam was remarkable for areflexia, and ptosis. Her initial EKG showed nonspecific ST segment changes and her Troponin T was elevated to 0.41ng/mL which peaked at 0.66ng/mL. Echocardiogram showed a depressed left ventricular ejection fraction to 35% with severely hypokinetic anterior wall and left ventricular apex was severely hypokinetic. EMG nerve conduction study showed severely decreased conduction velocity and prolonged distal latency in all nerves consistent with demyelinating disease. She was treated with 5days of intravenous immunoglobulin therapy to which she showed significant improvement in strength in her lower extremities. Echocardiogram repeated 4days later showing an improved left ventricular ejection fraction of 55% and no left ventricular wall motion abnormalities. Takotsubo cardiomyopathy is a rare complication of Miller-Fisher syndrome and literature review did not reveal any cases. Miller-Fisher syndrome is an autoimmune process that affects the peripheral nervous system causing autonomic dysfunction which may involve the heart. Due to significant autonomic dysfunction in Miller-Fisher syndrome, it could lead to arrhythmias, blood pressure changes, acute coronary syndrome and myocarditis, Takotsubo cardiomyopathy can be difficult to distinguish. The treatment of Takotsubo cardiomyopathy is supportive with beta-blockers and angiotensin-converting enzyme inhibitors are recommended until left ventricle ejection fraction improvement. Takotsubo cardiomyopathy is a rare complication during the acute phase of Miller-Fisher syndrome and must be distinguished from autonomic dysfunction as both diagnoses have different approaches to treatment.
 ...
PMID:Takotsubo cardiomyopathy associated with Miller-Fisher syndrome. 2822 14

Aim of this paper is to allows to analyze a topic of great relevance and media interest such as the role of prophylactic mastectomy in healthy women with BRCA mutation proposing to the surgeons some useful informations for decision-making. Less than 15% of all breast cancers are associated with germline genetic mutations. The majority of hereditary breast tumors are due to mutations in BRCA1 and BRCA2 genes that are responsible for only one third of hereditary cases. The risk estimates are extremely heterogeneous with a mean cumulative lifetime breast cancer risk of approximately 72% in BRCA1 and 69% in BRCA2 by age 80. The breast cancer is often bilateral and multicentric in BRCA mutation carriers. BRCA1 carriers have earlier-onset disease, particularly before age 50 and are more likely to develop aggressive triple-negative breast cancer than BRCA2 carriers or those who are BRCA mutation negative 1. Multiple strategies are effective in managing the risk of breast cancer in these women, including surveillance, chemoprevention, bilateral salpingo-oophorectomy and risk-reducing mastectomy. More intensive surveillance, including annual mammography and breast magnetic resonance imaging screening (commonly alternated every six months) beginning at age 25 or individualized based upon the earliest age of onset in the family, have significantly improved early detection of breast cancer among patients with deleterious BRCA mutations 1. The risk-reducing benefit of chemoprevention is not as well defined; chemopreventive strategies to reduce the risk of breast cancer have focused exclusively on prevention in high-risk women and involve the use of selective estrogen receptor modulators (SERMs) and aromatase inhibitors for breast cancer prevention. Only limited data are available regarding the preventive benefit of tamoxifene in BRCA mutations carriers 1. Risk-reducing bilateral salpingo-oophorectomy is recommended for BRCA mutation carriers by 35 to 40 or when childbearing is completed, or individualized based on age of onset of ovarian cancer in the family; bilateral salpingo-oophorectomy decreases the risk of both breast cancer and ovarian cancer in BRCA1 and BRCA2 mutation carriers and has also been associated with reduced all cause, breast cancer-specific, and ovarian cancer- specific mortality; risk-reducing bilateral salpingooophorectomy seems to offer an approximate 50% relative reduction in breast cancer risk 1. Prophylactic mastectomy provides the greatest reduction in risk of breast cancer development. In both retrospective and prospective observational studies, bilateral prophylactic mastectomy decreases the incidence of breast cancer by 90 percent or more in patients with BRCA mutation; it also is able to determine a variable gain in life expectancy compared to radiological surveillance; besides risk-reducing mastectomy allows to contain the strong anxiety and the fear of getting sick that often compromise the quality of life of BRCA mutation carriers 2. Prophylactic mastectomy could be technically performed in different ways. However, regarding the surgical technique, on the basis of current evidence, the gold standard seems to be represented by nipple-sparing mastectomy which, thanks to the preservation of the skin envelope and the nipple-areola complex, is able to optimize the oncological and aesthetic results. Nipple-sparing mastectomy provides superior cosmetic results. This procedure is usually performed through an inframmamary or radial or axillary incision where the skin is carefully dissected off the breast until all anatomic boundaries of the breast are reached and the gland in its entirety is excised. This technique does not seem to compromise the oncological/preventive efficacy compared to other types of mastectomy. In a multi-institution review of prophylactic 346 BRCA carriers undergoing either bilateral mastectomy or contralateral mastectomy with nipple- areola sparing there were no cases of breast cancer, whereas, based on models, 22 would have been expected 3. However nipple-sparing mastectomy must be carried out with technical skill and maximum attention not to leave macroscopic residues of mammary gland in particular in the axillary extension, peripheral extremities of the gland and the nipple-areola complex; it is necessary to perform an accurate dissection and a meticulous preparation of the skin flaps and of the areola-nipple complex which must be reasonably thin without however compromising its vitality. Whenever the patients opt to proceed with bilateral prophylactic mastectomy, an accurate preoperative radiological study should always be performed with mammography, ultrasound and magnetic resonance imaging to rule out the presence of suspicious breast lesions and minimize the risk of occult carcinomas by definitive histological examination. In the absence of contraindications, all patients should be candidates for breast reconstruction in order to minimize the negative physical and psychological impact of the mastectomy; the breast reconstruction should preferably be immediate, performed at the same time of the prophylactic mastectomy, by a team of dedicated plastic surgeons, or with permanent prosthesis or autologous tissues; the choice of the most appropriate reconstructive technique depends on various factors such as the physical/anatomical structure of the woman, the morphology/ degree of breast ptosis, the comorbidities but also the patient's wishes and preferences 1. However, in the discussion on the possibility of carrying out a prophylactic mastectomy, it is always necessary to consider a series of issues related to this procedure: - the possible oncological failure because risk-reducing mastectomy does not completely eliminate the risk of developing breast cancer; there is always a residual risk of about 5% to be related to the possible presence of residual glandular tissue or ectopic breast tissue 2; - the surgical morbidity with overall complication rates of 15-20% such as ischemia of the skin and/or of the areola-nipple complex, haematomas, infections, implant failure, partial/total autologous flap loss; in a considerable percentage of cases there is also the need to resort after the prophylactic mastectomy to further aesthetic/ plastic procedures to correct some imperfections or repair surgical complications 3-5; - the presence of sequelae such as the loss of sensitivity of the areola-nipple complex, possible paresthesias, painful sensations and the need for re-adaptation to a different body image 2; - the possible body image issues due to many factors, such as self-consciousness, feeling less sexually attractive and dissatisfaction with the scars 2,3. In addition to these issues we must add that most of the studies that show a gain in life expectancy thanks to prophylactic mastectomy, are based only on mathematical models and that the few prospective cohort studies often do not show a statistically significant improvement in terms of survival among women undergoing MP and intensive radiological surveillance 1,2. Therefore in consideration of the benefits but also of the problems that the prophylactic mastectomy involves, all the international guidelines highlight that this procedure must be considered, must be discussed with healthy BRCA women, however without giving an absolute recommendation to perform it 1. This discussion must take place, case by case, in specialized breast centers with a dedicated risk team. A personalized multidisciplinary path should guarantee an accurate genetic and clinical counselling, adequate psychological support and detailed information about all alternative risk management strategies. Clinical decision-making about strategies to pursue for breast cancer risk reduction should involve a tradeoff between life expectancy and quality of life. However if the patient and the medical team opt to proceed with prophylactic surgery, the cumulative evidence to date supports nipple sparing mastectomy with immediate reconstruction as an appropriate risk-reducing procedure to optimize the oncological and aesthetic results and improve quality of life.
 ...
PMID:Bilateral prophylactic mastectomy in BRCA mutation carriers: what surgeons need to know. 3087 61


<< Previous 1 2 3 4 Next >>