1/36. enzyme therapy in gaucher disease type 2: an autopsy case.A Japanese patient with gaucher disease type 2 was treated with enzyme therapy, alglucerase, from 7 to 22 months of age. Whereas hematologic parameters were normalized and hepatosplenomegaly was alleviated, no improvement in neurologic symptoms occurred, and the patient died of respiratory failure at age 22 months. Postmortem examination revealed massive intra-alveolar infiltration of Gaucher cells in lungs and in the central nervous system, i.e., the presence of Gaucher cells in the perivascular Virchow-Robins spaces in the cortex and deep white matter and extensive lamilar necrosis with reactive proliferation of blood vessels and macrophage infiltration of the cerebral cortex. It is suggested that enzyme therapy, with thus far recommended dose, does not prevent long-term respiratory and central nervous system involvement in severe varients of Gaucher disease.- - - - - - - - - - ranking = 1keywords = white (Clic here for more details about this article) |
2/36. Subacute onset of oculogyric crises and generalized dystonia following intranasal administration of heroin.A case is reported of a patient who experienced sudden onset of severe respiratory failure, shock and coma after first-time intranasal heroin abuse. During the following days full consciousness was restored, revealing persistent oculogyric crises, axial retropulsive dystonia and ataxia. Initially computer tomography (CT) scans of the brain were normal and cerebral spinal fluid examination showed a slight elevation of lactate. magnetic resonance imaging (MRI) scans of the brain demonstrated diffuse bilateral subcortical white matter hyperintensities, with sparing of the U-fibers, symmetric bilateral hyperintensities of the globus pallidum and very hyperintensive subcortical foci in the right hemisphere. Differential diagnostic assessment, treatment, clinical and MRI course of a 6-month follow-up are discussed.- - - - - - - - - - ranking = 1keywords = white (Clic here for more details about this article) |
3/36. Novel cluster of tRNALeu(UUR) mutations in a sporadic case of infantile myopathy restricted to muscle tissue.In a previous study we reported on a case with severe infantile, mitochondrial myopathy caused by somatic mutation [12]. In the present study we give evidence for asymmetric tissue distribution of the mutations. Mitochondrial dna (mtDNA) analysis showed a cluster of nearly homoplasmic point mutations in the tRNA gene for leucine (UUR) (A3259 G, A3261 G, A3266 G, A3268 G). The mutation is abundant in muscle, but is not found in blood cells. This cluster of mutations is sporadic, because the search for mutant molecules in the blood of the healthy mother and maternal grandmother did not show these alterations.- - - - - - - - - - ranking = 4.2132244489887keywords = blood cell (Clic here for more details about this article) |
4/36. Respiratory failure during induction chemotherapy for acute myelomonocytic leukaemia (FAB M4Eo) with ara-C and all-trans retinoic acid.We report two cases of acute myeloid leukaemia FAB classification M4Eo with high white cell counts at presentation, who developed acute respiratory failure with pulmonary infiltrates on chest radiograph soon after commencing conventional cytotoxic chemotherapy plus all-trans retinoic acid (ATRA). We suggest that in patients with M4Eo ATRA should be used with caution, perhaps delaying its commencement until the white cell count is < 10 x 109/l.- - - - - - - - - - ranking = 2keywords = white (Clic here for more details about this article) |
5/36. methemoglobinemia following unintentional ingestion of sodium nitrite--new york, 2002.methemoglobinemia is an unusual and potentially fatal condition in which hemoglobin is oxidized to methemoglobin and loses its ability to bind and transport oxygen. The most common cause of methemoglobinemia is the ingestion or inhalation of oxidizing agents such as nitrates or nitrites (e.g., sodium nitrite, which is used commonly as a preservative in curing meats and fish). This report summarizes the investigation of an incident of methemoglobinemia in five members of a household in new york who became ill after eating a meal seasoned with a white crystalline substance from a plastic bag labeled "Refined Iodized Table Salt" (Figure). The findings underscore the need for proper storage of hazardous materials to avoid unintentional ingestion and the importance of collaboration by multiple agencies to address a potential public health emergency.- - - - - - - - - - ranking = 1keywords = white (Clic here for more details about this article) |
6/36. Acute respiratory failure precipitated by a carbonic anhydrase inhibitor.A 60-year-old white man with chronic bronchitis was noted to develop acute respiratory failure and metabolic acidosis four days after being started on methazolamide (Neptazane) for an ophthalmologic problem. The patient was intubated with ventilator support and improved after his metabolic acidosis resolved. Caution is emphasized in the use of carbonic anhydrase inhibitors in patients with obstructive airway disease.- - - - - - - - - - ranking = 1keywords = white (Clic here for more details about this article) |
7/36. Pertussis pneumonia, hypoxemia, hyperleukocytosis, and pulmonary hypertension: improvement in oxygenation after a double volume exchange transfusion.A 3-month-old infant of 33 weeks' gestation was hospitalized with pneumonia caused by bordetella pertussis. respiratory insufficiency worsened, and on hospital day 3, there was severe pulmonary dysfunction (arterial oxygen pressure/fraction of inspired oxygen ratio: 120), extreme leukocytosis (white blood cell count 104,000/mm3), and severe pulmonary hypertension as assessed by 2-dimensional echocardiogram. A double volume exchange transfusion was performed to reduce the leukocyte mass. Oxygenation began to improve during the exchange and continued to improve over the ensuing 31 hours (arterial oxygen pressure/fraction of inspired oxygen ratio: 280). The white blood cell count fell dramatically after the exchange, and the rate of rise was slower after exchange therapy compared with preexchange.- - - - - - - - - - ranking = 10.426448897977keywords = blood cell, white (Clic here for more details about this article) |
8/36. Upper airway oedema following autologous blood transfusion from a wound drainage system.We report a case of a 70-yr-old white woman who underwent a revision of a total hip arthroplasty under general anaesthesia. The intraoperative course was stable without any complications and the estimated blood loss was 2500 ml. The patient received an autologous transfusion of blood from a wound drainage system in the recovery room. The transfusion was followed immediately by marked respiratory distress and upper airway oedema. She required emergency tracheal intubation and mechanical pulmonary ventilation. A coagulopathy also developed which was treated and resolved within 12 hr of the capillary leak phenomenon. The trachea was extubated on the first postoperative day and she had an uneventful course until discharge from the hospital two days later. We discuss the possible, aetiology of such a reaction to autologous blood including complement and platelet activation. It is suggested that reinfusion of nonwashed shed blood from a wound drainage system may present a hazard even though the fluid was autologous in origin.- - - - - - - - - - ranking = 1keywords = white (Clic here for more details about this article) |
9/36. Multiple complications and withdrawal syndrome associated with quetiapine/venlafaxine intoxication.OBJECTIVE: To report a case of quetiapine/venlafaxine intoxication associated with multiple complications and to review their possible relationship with these 2 drugs. CASE SUMMARY: A 53-year-old white man was admitted to the hospital for loss of consciousness secondary to voluntary intoxication with venlafaxine and quetiapine. Several complications were attributable to this intoxication including seizures, prolonged coma, respiratory depression, neuroleptic malignant syndrome, prolonged QRS and QTc intervals, and a possible venlafaxine withdrawal syndrome. DISCUSSION: Quetiapine could be responsible for the neuroleptic malignant syndrome presented in this case. Moreover, venlafaxine intoxication, fever, autonomic instability, and myoclonus presented serotonin syndrome as a differential diagnosis. Potential causes of seizures and prolongation of the QRS and QTc intervals are reviewed. Finally, prolonged coma and late venlafaxine withdrawal are discussed with regard to the pharmacodynamics and pharmacokinetics of drug elimination in the context of intoxication. CONCLUSIONS: Clinicians should be aware of possible complications following intoxication with atypical antipsychotics and anti-depressants, including protracted altered mental status.- - - - - - - - - - ranking = 1keywords = white (Clic here for more details about this article) |
10/36. Young onset limb spasticity with PSP-like brain and spinal cord NFT-tau pathology.A 30-year-old white man presented with a sporadic form of gradually progressive spastic gait and, later, supranuclear vertical and horizontal gaze palsy, mild cognitive impairment, loss of postural reflexes, and falls. dna analysis revealed H1/H1 haplotype without tau gene (exons 9 to 13) mutation. Eight years later, postmortem revealed a tauopathy similar to progressive supranuclear palsy. Unusual aspects were early age at onset, neurofibrillary tangle, and tau involvement of the cord.- - - - - - - - - - ranking = 1keywords = white (Clic here for more details about this article) |
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