Cases reported "Syndrome"

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21/41. Human pythiosis associated with thalassemia hemoglobinopathy syndrome.

    pythium infection (pythiosis) in humans has not previously been described, even in areas endemic for animal pythiosis. We report five patients with a unique presentation of fungal arteritis. The medium- to large-sized arteries were involved, and in some cases this involvement led to gangrene of the limbs, aneurysm formation, and ultimately fatal arterial leakage. All five patients were farmers. All patients, with the possible exception of one who had hemoglobin typing performed after receiving a blood transfusion, had thalassemia hemoglobinopathy syndrome. Fungal isolation was difficult. amphotericin b treatment seemed to be ineffective. Radical surgical removal of infected tissues and oral administration of a saturated solution of potassium iodide are proposed therapy. In the tropics, where pythium is ubiquitous, one should actively look for this fungal infection in patients with unexplained arterial occlusion, especially in the case of patients with thalassemia hemoglobinopathy syndrome.
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22/41. Isolated and syndromic cryptophthalmos.

    The association between cryptophthalmos and multiple congenital malformations has been well documented over the last century. Numerous authors have described cases as the cryptophthalmos syndrome, but recently reports of cases without cryptophthalmos have led several authors to use the eponymic designation fraser syndrome. We have seen seven cases of cryptophthalmos syndrome, including three sib pairs. All presented with cryptophthalmos and bilateral renal agenesis in addition to other characteristic associated malformations. A literature review showed 124 cases in which 27 demonstrated isolated cryptophthalmos, while 97 showed a pattern of multiple congenital malformations. We selected four major and eight minor criteria which enabled us to classify 86 of those cases as having cryptophthalmos syndrome with 11 remaining unclassified. Cryptophthalmos demonstrates equal sex distribution, occurrence in sibs, consanguinity in families with more than one affected child, and lack of vertical transmission--strongly suggesting autosomal recessive inheritance. Isolated cryptophthalmos or cryptophthalmos sequence was sporadic in 16 cases and familial in 11. The familial cases occurred in three families and demonstrated vertical transmission. The pathogenesis of this syndrome is unknown. There are similarities to animal models of maternal vitamin a deprivation and defects in programmed cell death. Cryptophthalmos syndrome should be considered in the differential diagnosis of cases with multiple congenital malformations, especially when they are associated with renal agenesis, even in the absence of cryptophthalmos.
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23/41. Management of ovarian hyperstimulation syndrome with chlorpheniramine maleate, mannitol, and invasive hemodynamic monitoring.

    ovarian hyperstimulation syndrome due to exogenous gonadotropin administration is life-threatening in its most severe form. Profound fluid shifts may occur, with concomitant cardiovascular changes. We present a case of severe ovarian hyperstimulation syndrome managed with chlorpheniramine maleate (previously shown to be effective in animal models) and invasive hemodynamic monitoring. mannitol and albumin infusions were also used to maintain urine output and intravascular volume.
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24/41. Abnormal central monoamine metabolism in humans with "true hypersomnia" and "sub-wakefulness".

    A case of kleine-levin syndrome with true hypersomnia and a case of sub-wakefulness are described. In both patients lumbar cerebrospinal fluid homovanillic acid, 5-hydroxyindoleacetic acid, 3-methoxy-4-hydroxyphenylethylene glycol levels have been assayed during episodes of hypersomnia and normal sleep-waking cycles. Besides an increased 5-hydroxytryptamine turnover, mainly an increased dopamine turnover has been detected in both kinds of hypersomnia, and this finding was more remarkable in the case with sub-wakefulness. The probable role of dopamine in abnormalities in the sleep-waking cycle is discussed on the basis of results in experimental animal hypersomnias.
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25/41. The presence of Mullerian remnants in the complete androgen insensitivity syndrome: a steroid hormone-mediated defect?

    A new patient with CAIS who presented Mullerian remnants has been described. Based on recently reported data in experimental animals and considering that human embryos carrying the X-linked CAIS mutation do not express any androgenic effect, we propose that the unopposed estrogenic action in the CAIS-developing embryo might interfere with the mechanism of action of the AMH inhibiting the regression of the female ducts.
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26/41. Renal failure and upper urinary tract obstruction after retrograde pyelography with potassium bromide solution.

    Two iodine-sensitive women in whom potassium bromide solution was used as a radiocontrast agent for retrograde pyelography developed similar clinical conditions culminating in renal failure. Renal failure was due to upper urinary tract obstruction from fibrosis and fat necrosis in each case. Similar histological findings have been described in rabbit bladder exposed to sodium bromide solution. Different patterns of exposure corresponded with different sites of major damage in the two cases. One patient, who had repeated studies of the pelvicalyceal system with potassium bromide developed papillary necrosis. Systemic exposure to bromide-releasing compounds (in animals) and to bromides (in humans) has also been associated with papillary necrosis.
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27/41. memory enhancement after physostigmine treatment in the amnesic syndrome.

    Central anticholinergic agents (eg, scopolamine) are known to produce transient memory deficits in human and animal subjects. Damage to the limbic system frequently results from herpes simplex encephalitis (HSE) and produces a memory deficit. If this deficit is due to limbic cholinergic pathway destruction, it might improve with central cholinergic agonists (eg, physostigmine). In a doubleblind study over a three-week period, we compared memory performance on three days after 0.8-mg subcutaneous physostigmine therapy (three sessions) to baseline performance and that obtained in three randomly interspersed control sessions. Serial assessment of memory by the Selective Reminding Test showed reproducible enhancement of long-term storage and retrieval with physostigmine treatment. Performance after control injections did not exceed baseline levels. Our findings encourage the hypothesis that cholinergic mechanisms subserve memory and that their pharmacological potentiation might favorable influence some amnesic conditions.
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28/41. Posttetanic potentiation in a patient with myasthenia gravis.

    We studied a patient with clinically typical myasthenia gravis (MG) and high serum titer of antibodies to acetylcholine receptor. Unlike the usual response in MG, there was an increment in the amplitude of the electrical response (308% of control) after 10 seconds of voluntary tetanus. Posttetanic facilitation is usually less than 200% in MG and over 200% in Eaton-Lambert syndrome. However, there have been several other cases of typical MG with increments over 200%. Facilitation of this magnitude has also been seen with curare administration in animals and man. However, in myasthenia, as opposed to curare poisoning, competitive blocking is not thought to exist.
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29/41. Small bowel resection with vitamin e deficiency and progressive spinocerebellar syndrome.

    A 27-year-old woman who had undergone extensive small bowel resection at age 14 months developed kyphoscoliosis, ocular palsies, constricted visual fields, retinitis pigmentosa, progressive ataxia, muscular weakness, nearly absent vibration and impaired position sense, areflexia, extensor plantar responses, and macrocytic anemia. Her condition closely resembled Bassen-Kornzweig disease, but lipoprotein electrophoresis was normal. Mild fat malabsorption, lactic acidosis, and severe deficiency of vitamins A and E and carotene were documented. serum B12 and folic acid levels were normal. During vitamin a and E therapy sufficient to elevate serum levels to the normal range, there was improvement of visual fields and visual acuity in dim light, lactic acidosis, and red cell volume. Progression of symptoms was halted during vitamin replacement therapy, and her gait improved. This syndrome is the human counterpart to vitamin e deficiency in experimental animals.
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30/41. hypophosphatemia and neurological changes secondary to oral caloric intake: a variant of hyperalimentation syndrome.

    Previous reports have described a syndrome of paresthesias, weakness, seizures and hypophosphatemia in patients and animals receiving intravenous hyperalimentation. In this report we describe a group of five patients who developed this syndrome while on oral caloric intake and three patients who received only modest amounts of hyperalimentation therapy. As an experimental corollary, studies were performed in starved and normal dogs with calories infused via an intragastric catheter. The serum inorganic phosphorus (Pi) fell slightly in normal animals from 4.8-2.5 mg. %. In the starved dogs with diarrhea or vomiting the Pi fell gradually from 4.8-1.6. In starved dogs without gastrointestinal symptoms the Pi fell precipitously from 3.7-1.4 mg % on the first day of infusion and remained at that level. Approximately 50% of the starved animals developed the neurological syndrome; none of the normal animals had neurological symptoms.
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