Gene/Protein Disease Symptom Drug Enzyme Compound
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POEMS syndrome is a rare systemic multi-organ disease usually reported in Japanese patients. The clinical course is slow with a 5-year survival of 60%. Death is caused by polyneuropathy and or anasarka. We observed four cases in our ward (all males, aged 39, 57, 54 and 54 years) who all presented at least four characteristic clinical signs. Gynecomasty together with impotency was seen in all patients. All had hypogonadism and borderline hyperprolactinaemia. Hyperoestrogenism was seen in two. In three patients, rare endocrinopathies were part of the POEMS syndrome. One patient had diabetes mellitus. The clinical course was variable and a function of the effectiveness of plasmocyte dyscrasia therapy. Little work has been done on endocrinopathies in POEMS syndrome. In most cases, gonadotrope function is impaired with gynecomasty and impotency in men, amenorrhoea in women. Generally the hypogonadism is hypogonadotropic. Hyperoestrogenism is frequent and prolactin levels are normal or high with an exaggerated response to thyroid releasing hormone stimulation. The aetiology of POEMS syndrome is unknown. Current research is based on an immunologic theory based on the discovery of high levels of interleukin 6 in POEMS patients with or without Castleman's disease. The cytokine would affect the different organs and lead to clinical expression. Corticosteroids are usually effective in most patients, particularly in reducing the oedema and controlling the polyneuropathy.
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PMID:[Endocrine diseases in POEMS syndrome. Apropos of 4 cases]. 797 57

Rabson-Mendenhall syndrome was initially reported in 1956 by Rabson et al., who described three children with familial hyperplasia of pineal gland and diabetes mellitus. Characteristic features of this syndrome are low birthweight, thickened nails, hirsutism, acanthosis nigricans, dental precosity and dysplasia, polycystic ovary, abdominal proturbance, phallic enlargement and insulin resistant diabetes mellitus. Most patients die of ketoacidosis and intercurrent infection associating with extreme insulin resistance during mid-childhood. This syndrome appears to show autosomal recessive inheritance. Recent reports provide evidence that mutations in the insulin-receptor gene are, at least in pant, the cause of this syndrome, and that recombinant IGF-I (insulin-like growth factor-1) reduces hyperglycemia in patients of this syndrome.
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PMID:[Rabson-Mendenhall syndrome]. 798 91

POEMS syndrome has been defined as an association of plasma cell dyscrasia with polyneuropathy, organomegaly, endocrinopathy, M protein and skin changes. Although certain authors do not distinguish this syndrome from osteosclerosing myeloma, syndromes comparable to POEMS have been observed without bone lesions. Others have described the clinical features involved under the terms of Crow-Fukase's syndrome, PEP syndrome (pigmentation, oedema, plasma cell dyscrasia, or Takatsuki's syndrome. Seen in men twice as often as in women, usually between the ages of 40-50 years, all five clinical features are not always present or may be accompanied by other signs. The first sign of the peripheral polyneuropathy is usually sensorial impairment followed by distal then proximal motor deficit. The deficit is usually severe and 50% of the patients become unable to walk. Cranial nerves are rarely involved. Liver, spleen and lymph node enlargement are observed. The most frequent signs of an endocrinopathy are gynaecomastia, atrophy of the testicules, impotence and amenorrhoea. Testosterone levels are low and oestrogen levels are increased in men together with luteinizing hormone, follicle stimulating hormone and prolactin. Hypothyroidism is frequent and diabetes mellitus is observed in 50% of the patients. Protein M is a monoclonal immunoglobulin (IgG or IgA), almost always with a light lambda chain. Skin changes include hyperpigmentation, hypertrichosis, hyperhidrosis, thickening of the skin suggestive of sclerodermia and papillary angiomas. Other signs, especially peripheral oedema often occur early in the disease course and may precede the peripheral neuropathy. POEMS syndrome is often associated with a myeloma (up to 50% of the cases in certain series). Although immunoglobulin deposit on myelin sheaths, anti-endocrine antibodies and receptors of lambda chains have been proposed as playing a role, no mechanism of pathogenesis has been determined. The natural history of the disease leads to a severe polyneuropathy. The patients become totally bedridden and death results from complications of decubitus rather from the direct effect of the underlying dyscrasia. When bone lesions are minor, radiotherapy or surgery can improve the neuropathy and resection of a solitary plasmocytoma can lead to total remission. Chemotherapy or corticosteroids may improve the polyneuropathy in certain cases. Plasma exchange has not been successful.
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PMID:[POEMS syndrome]. 807 60

Owing to the methodological difficulties involved, none of the studies so far published on the influence of diet on human osteo-arthritis has been fully comprehensive. We have therefore compiled a series of experimental observations--including some of our own--in the mouse and other species that have a bearing on this subject. Fats with a high content of saturated fatty acids, such as pork fat, greatly favored the development of spontaneous osteo-arthritis in the mouse, as also did cholesterol. Cottonseed oil and olive oil showed less tendency to do so. The highly unsaturated linoleic acid antagonized the effect of pork fat. Other vegetable oils and also fish oil exerted an anti-inflammatory and antinociceptive action in experimental animals. Foodstuffs rich in carbohydrates only promoted the development of degenerative joint disease in predisposed mice. Hyperglycemia (diabetes mellitus) constitutes a risk factor for the development of osteo-arthritis in humans as well as in mice and rats. A low-protein diet led to dysplasia of the hip joint in the dog; a high-protein diet inhibited the development of osteo-arthritis in the mouse, but promoted inflammation in volunteers. Disturbances of protein metabolism such as alkaptonuria can initiate degenerative processes in the joints of humans and animals.
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PMID:[Potential effects of nutrition including additives on healthy and arthrotic joints. I. Basic dietary constituents]. 836 23

A 58-year-old woman experienced a transient right-sided hemianopsia. She also had difficulty finding words and trouble naming parts of objects. On admission, three days later, there were no signs of residual neurological deficit. Laboratory studies showed findings of neither diabetes mellitus, hypertension nor cardiac disease. Her serum cholesterol level was normal. No bruit was heard over the head and neck. Preoperative angiograms showed a discrete web (septum) at the left internal carotid origin (Fig. 2). 123I-IMP SPECT revealed a decreased areas of perfusion mainly in the left middle cerebral artery distribution (Fig. 3A). A reconstructive operation was performed. A firm discrete nonatherosclerotic ridge (septum) protruding into the vessel lumen was resected. Microscopic examination of the surgical specimen demonstrated intimal fibroplasia, a rare subtype of fibromuscular dysplasia (FMD). Postoperatively, hypoperfused areas in SPECT were improved (Fig. 3B). The patient has been free of symptoms to the present time (for about one year). In addition to the rarity of the lesion, the available data suggest that web-like subtype of FMD is apt to be associated with an increase in the risk of hemodynamic compromise and thromboembolism. Surgical therapy is recommended, especially for symptomatic patients.
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PMID:[Fibromuscular dysplasia with an internal carotid artery web on the angiograms]. 847 91

Recipient vessels from the head and neck region were histologically examined in 30 patients who had undergone extensive tumor resection necessitating microvascular tissue reconstruction. Past illnesses considered to be risk factors included hypertension, myocardial disease, lung disease, cirrhosis, diabetes, nephritis, as well as extensive nicotine and alcohol abuse. Blood vessels chosen for microsurgical anastomosis were exclusively examined histologically in this study. Patients undergoing microvascular surgery demonstrated vessel abnormalities in 93%. The frequency of dysplasia was higher in the arteries than in the veins (73% and 26%, respectively). Marked thickening of the blood vessel wall and severe exfoliation of the endothelial cells were observed in most arteries. Fibrodysplasia and exfoliated endothelial cells were more frequently observed in the recipient arteries than the graft arteries. Only slight thickening of the vessel wall and mild fibrodysplasia were seen in the veins. Two graft failures were correlated to technical errors rather than pre-existing vessel lesions. This study revealed that most patients undergoing microsurgery in the head and neck region demonstrate pre-existing damage in vessels, which generally hinders anastomosis. Although the study tried to identify fully the interrelationships between the extent of dysplasia, past medical history, preoperative therapy, risk factors and factors that cause free-graft failure, pre-existing changes in the recipient and graft vessels may cause technical difficulties and must be regarded as additional factors contributing to graft failure.
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PMID:Histological changes in vessels used for microvascular reconstruction in the head and neck. 870 38

A 43-year-old female was admitted to our hospital for polydipsia and hyperglycemia. She had total blindness and globes were not recognized by inspection, indicating clinical anophthalmia. Physical examination revealed short stature, obesity, prematurely gray hair, shortness of fingers and toes, syndactyly, and multiple dental caries. Laboratory examination showed hyperglycemia, increased glycosilated hemoglobin (HbA1c) and insulin resistance on euglycemic glucose clamp. Blunted growth hormone (GH) secretion was shown in response to insulin-induced hypoglycemia, arginine infusion, and GH-releasing hormone (GHRH) loading test, and in 24 h spontaneous GH profile. Magnetic resonance imaging (MRI) and computed tomography (CT) showed dysostosis of orbit, defect of optic nerve, enlarged suprasellar cistern, and prolonged pituitary stalk. This may be the first report of a unique case with GH deficiency accompanied by clinical anophthalmia, hypoplastic orbits, digital dysplasia, short stature, obesity, and diabetes mellitus.
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PMID:Unique case of growth hormone (GH) deficiency accompanied by clinical anophthalmia, hypoplastic orbits, digital dysplasia, short stature, obesity, and diabetes mellitus. 872 46

Wolcott-Rallison syndrome is a rare autosomal recessive condition first described in 1972. It is characterised by diabetes mellitus which arises in early infancy and multiple epiphyseal dysplasia. We describe an affected girl who had recurrent episodes of hepatic failure for which no obvious cause was found. Post-mortem examination revealed abnormal pancreatic histology and congenital abnormalities of the central nervous and cardio-respiratory systems which have not been previously described in this condition. She also demonstrated a deletion at 15q 11-12 in 65% of her cells.
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PMID:Wolcott-Rallison syndrome associated with congenital malformations and a mosaic deletion 15q 11-12. 873 81

Severe axial mesodermal dysplasia spectrum in an infant of a diabetic mother: We report a 6 weeks old girl with manifestations of the caudal regression sequence. At birth she presented severe contractures of both lower extremities, bilateral talipes equinovarus, absence of the spinal vertebral bodies below the 12th thoracic vertebra, agenesis of sacrum and coccyx, a transversal twelfth rib, bilateral small kidneys, a neurogenic bladder, hypoplastic external genitalia, anal sfincter insufficiency and an atrial septum defect. Pregnancy was complicated by severe diabetes. This spectrum of anomalies is probably due to a generalized alteration in mesodermal cell migration during the primitive streak period. This sequence is strongly associated with maternal diabetes which seems to play a major teratogenic role.
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PMID:Severe axial mesodermal dysplasia spectrum in an infant of a diabetic mother. 877 16

Peripheral neuropathy is an important factor of disability in the elderly. In order to learn more on the usefulness of intensive evaluation of patients over 65 years of age with subacute or chronic disabling peripheral neuropathy, we reviewed the clinical and nerve biopsy findings of the last 100 patients of this age group who suffered from a peripheral neuropathy severe enough to justify performance of a nerve biopsy for a diagnostic or prognostic purpose. Normal nerve biopsy findings led to the diagnosis of lower motor neuron disease in three patients and pointed to lesions of the spinal roots in six other patients. Necrotizing arteritis was demonstrated in the biopsy specimens of 23 patients, and non-necrotizing vasculitis in five. In five additional patients the diagnosis of vasculitic neuropathy was kept in spite of non-contributive biopsy findings. In two diabetic patients who had a multifocal neuropathy the biopsy also revealed the presence of vasculitis. Thus 35% of the patients included in this series had one form or another of vasculitic neuropathy. Fourteen patients had a chronic inflammatory demyelinating polyneuropathy. In 11 patients the neuropathy was associated with monoclonal gammopathy, which was benign in nine and associated with malignant plasma cell dyscrasia in two. Among the six patients with diabetes mellitus, two patients who presented with a multifocal neuropathy were found to have vasculitis in the nerve specimen; in the others the biopsy was performed because of uncommonly severe pains or motor involvement due to an extremely severe diabetic neuropathy. Six patients suffered from a long-lasting disability secondary to a drug-induced neuropathy. The remaining 15% had neuropathies of different origin, including amyloidosis, lepromatous leprosy, carcinomatous neuropathy and alcoholic neuropathy. Six patients had a mild, non-progressive or slowly progressive axonopathy of unknown origin, ageing of the peripheral nervous system may have played a role in its development. Our findings show that vasculitis is an important and treatable cause of disabling neuropathy in the elderly and that the proportion of patients with severe neuropathy of unknown origin is small.
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PMID:Contribution of nerve biopsy findings to the diagnosis of disabling neuropathy in the elderly. A retrospective review of 100 consecutive patients. 881 73


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