The association of hereditary neuropathies and heritable skeletal disorders.

Abstract:

:We describe two patients with associations of hereditary neuropathies and heritable skeletal disorders not previously reported. The first patient had Marfan's syndrome and hereditary motor and sensory neuropathy Type 1. The second patient had Ehlers-Danlos syndrome, Klippel-Feil syndrome and tomaculous neuropathy.

journal_name

Postgrad Med J

authors

Chattopadhyay AK,Kandler RH,Sharrack B

doi

10.1136/pgmj.71.834.245

subject

Has Abstract

pub_date

1995-04-01 00:00:00

pages

245-6

issue

834

eissn

0032-5473

issn

1469-0756

journal_volume

71

pub_type

杂志文章,评审
  • Neurohormonal responses to antihypertensive treatment with captopril or hydrochlorothiazide.

    abstract::In order to assess the neurohormonal responses to oral administration of two drugs with different antihypertensive mechanisms, and their implications for long-term efficacy, we studied the changes in plasma renin activity, aldosterone, catecholamines and blood pressure after two cross-over periods of treatment with ca...

    journal_title:Postgraduate medical journal

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:

    authors: Rabinad E,Gaya J,Rivera F,Ingelmo M,Balcells A

    更新日期:1986-01-01 00:00:00

  • Microvascular investigations in diabetes mellitus.

    abstract::This paper reviews the current literature concerning the different investigative modalities available to assess the microcirculation in diabetic microangiopathy. The advantages and disadvantages of the different invasive and noninvasive methods available are presented objectively. We have concentrated on the tests tha...

    journal_title:Postgraduate medical journal

    pub_type: 杂志文章,评审

    doi:10.1136/pgmj.69.812.419

    authors: Chittenden SJ,Shami SK

    更新日期:1993-06-01 00:00:00

  • Near fatal puerperal fever due to Mycoplasma hominis.

    abstract::We describe a case of severe septicaemia caused by Mycoplasma hominis in a 23 year old patient following childbirth. She developed disseminated intravascular coagulation and acute respiratory distress syndrome which have not hitherto been described in association with septicaemia due to this organism. Investigation an...

    journal_title:Postgraduate medical journal

    pub_type: 杂志文章

    doi:10.1136/pgmj.66.772.147

    authors: Young MJ,Cox RA

    更新日期:1990-02-01 00:00:00

  • The antemortem diagnosis of pyogenic liver abscess due to perforation of the gut by a foreign body.

    abstract::Perforation of the gastrointestinal tract by ingested foreign bodies is rare; the diagnosis of pyogenic liver abscess resulting from such perforations is usually made at post-mortem. We present a case of perforation of the gut, due to an ingested dental plate, with a resultant pyogenic liver abscess, which presented a...

    journal_title:Postgraduate medical journal

    pub_type: 杂志文章

    doi:10.1136/pgmj.59.693.455

    authors: Shaw PJ,Freeman JG

    更新日期:1983-07-01 00:00:00

  • Bilateral carpal tunnel syndrome associated with interleukin 2 therapy.

    abstract::We report the development of synchronous bilateral carpal tunnel syndrome in a woman with metastatic colorectal cancer, undergoing treatment with recombinant interleukin 2. A carpal tunnel decompression was carried out on the hand which was more severely affected, with a gradual recovery in median nerve function. To t...

    journal_title:Postgraduate medical journal

    pub_type: 杂志文章

    doi:10.1136/pgmj.68.801.587

    authors: Heys SD,Mills KL,Eremin O

    更新日期:1992-07-01 00:00:00

  • Practolol-induced autoantibodies and their relation to oculo-cutaneous complications.

    abstract::Tissue auto-antibodies were investigated in fifty-one patients (twenty-five female, twenty-six male) receiving practolol for ischaemic heart disease or dysrhythmias and compared with those found in 204 patients (fifty-eight female, 146 male) with ischaemic heart disease who did not receive practolol. Antinuclear facto...

    journal_title:Postgraduate medical journal

    pub_type: 临床试验,杂志文章

    doi:10.1136/pgmj.53.616.75

    authors: Jachuck SJ,Stephenson J,Bird T,Jackson FS,Clark F

    更新日期:1977-02-01 00:00:00

  • The value of 5-aminosalicylic acid in inflammatory bowel disease for patients intolerant or allergic to sulphasalazine.

    abstract::The use of sulphasalazine in inflammatory bowel disease is often limited by intolerance or allergy. In previous studies 5-aminosalicylic acid (5ASA), the active ingredient of sulphasalazine, coated with an acrylic resin, has been shown to be as effective as sulphasalazine in maintaining remission. In this study coated...

    journal_title:Postgraduate medical journal

    pub_type: 杂志文章

    doi:10.1136/pgmj.61.722.1047

    authors: Donald IP,Wilkinson SP

    更新日期:1985-12-01 00:00:00

  • Villous adenoma of the rectum with electrolyte depletion, diabetes and hypogonadism.

    abstract::The case of a woman with a large benign villous papilloma of the rectum, presenting with sodium and water depletion and later complicated by persistent hypokalaemia, is described. The patient also suffered from primary hypogonadism and diabetes. ...

    journal_title:Postgraduate medical journal

    pub_type: 杂志文章

    doi:10.1136/pgmj.41.474.186

    authors: Bamford JK,Galbraith HJ,Pender BW

    更新日期:1965-04-01 00:00:00

  • Muscle dynamics in hypertrophic cardiomyopathy.

    abstract::Previous reports have demonstrated that patients with hypertrophic cardiomyopathy (HCM) have prolonged isovolumic relaxation period (IRP) reflecting reduced rate of fall of left ventricular pressure. Eighty four patients with proven hypertrophic cardiomyopathy and 31 normal subjects were studied by simultaneous record...

    journal_title:Postgraduate medical journal

    pub_type: 杂志文章

    doi:10.1136/pgmj.62.728.545

    authors: Alvares RF,Goodwin JF

    更新日期:1986-06-01 00:00:00

  • Biliary peritonitis secondary to perforation of common bile duct: an unusual presentation of chronic calcific pancreatitis.

    abstract::Common bile duct perforation causing biliary peritonitis is an unusual entity and a pancreatic calculus causing this perforation is all the more rare, and to our knowledge has not been reported previously. Such an unusual presentation of chronic calcific pancreatitis is herein reported. ...

    journal_title:Postgraduate medical journal

    pub_type: 杂志文章

    doi:10.1136/pgmj.68.804.837

    authors: Kumar A,Kataria R,Chattopadhyay TK,Karak PK,Tandon RK

    更新日期:1992-10-01 00:00:00

  • Evaluation and management of hypersensitivity reactions to chemotherapy agents.

    abstract::Hypersensitivity reactions to chemotherapy drugs pose significant difficulties in management, especially when no suitable alternative is available or acceptable and delay in continuation of treatment may be life-threatening. Such reactions may be IgE- or non-IgE-mediated and have varied manifestations. Timely recognit...

    journal_title:Postgraduate medical journal

    pub_type: 杂志文章,评审

    doi:10.1136/postgradmedj-2014-132686

    authors: Tham EH,Cheng YK,Tay MH,Alcasabas AP,Shek LP

    更新日期:2015-03-01 00:00:00

  • Antenatal appendicular perforation.

    abstract::Antenatal appendicular perforation leading to localized meconium peritonitis and intestinal obstruction is reported in a premature neonate. The baby was successfully treated by a limited ileocaecal resection. ...

    journal_title:Postgraduate medical journal

    pub_type: 杂志文章

    doi:10.1136/pgmj.63.745.1001

    authors: Narasimharao KL,Mitra SK,Pathak IC

    更新日期:1987-11-01 00:00:00

  • Autonomic neuropathy in African diabetic patients.

    abstract::To determine the prevalence and extent of autonomic neuropathy amongst Africans with insulin-dependent diabetes mellitus (IDDM), we investigated 50 such patients at our clinic. Mean age (+/- 1 s.d.) was 26 +/- 6 years, male:female ratio was equal (25M:25F) and duration of diabetes was 4.0 +/- 3.0 years. A battery of s...

    journal_title:Postgraduate medical journal

    pub_type: 杂志文章

    doi:10.1136/pgmj.70.821.188

    authors: Tuch PS,Gill GV,Huddle KR

    更新日期:1994-03-01 00:00:00

  • Pseudo-splenomegaly as a result of subphrenic abscess.

    abstract::A case of left-sided subphrenic abscess, secondary to perforation of a carcinoma of stomach, is described. The patient presented with a palpable spleen which was shown to be normal in size but displaced by the subphrenic collection. The importance of correct interpretation of this physical sign is discussed. ...

    journal_title:Postgraduate medical journal

    pub_type: 杂志文章

    doi:10.1136/pgmj.62.723.29

    authors: Snape J,Baker AR,Rees Y

    更新日期:1986-01-01 00:00:00

  • Coeliac disease with mild mucosal abnormalities: a report of four patients.

    abstract::In a routine adult gastroenterological practice, seventeen (15%) of 123 patients had small-intestinal biopsies which were neither normal nor were completely flat as found in classical coeliac disease. Some of these had a possible cause for the mild mucosal abnormality, but in six there was no other apparent cause and ...

    journal_title:Postgraduate medical journal

    pub_type: 杂志文章

    doi:10.1136/pgmj.53.617.134

    authors: Scott BB,Losowsky MS

    更新日期:1977-03-01 00:00:00

  • A case of multiple endocrine adenomatosis with primary amenorrhoea.

    abstract::A well documented sporadic case of multiple endocrine adenomatosis (MEA) type I, with the pituitary tumour presenting as a prolactinoma, is described in a 28-year-old female. Primary amenorrhoea, resulting from hyperprolactinaemia, was the first symptom of the polyglandular neoplasia. A gastrinoma was removed from the...

    journal_title:Postgraduate medical journal

    pub_type: 杂志文章

    doi:10.1136/pgmj.54.635.618

    authors: Vandeweghe M,Braxel K,Schutyser J,Vermeulen A

    更新日期:1978-09-01 00:00:00

  • Lactate and acid base changes in the critically ill.

    abstract::Metabolic acidosis and hyperlactataemia are important, independent findings in acute illness, and the combination of these abnormalities carries a grave prognosis. Despite this there is still controversy about the most appropriate therapy of lactic acidosis, and the relationship of commonly used acid base measurements...

    journal_title:Postgraduate medical journal

    pub_type: 杂志文章

    doi:

    authors: Nimmo GR,Grant IS,Mackenzie SJ

    更新日期:1991-01-01 00:00:00

  • Cocaine use and stroke.

    abstract::Stroke is the third most common cause of death in developed countries. In England and Wales, 1000 people under the age of 30 have a stroke each year. Cocaine is the most commonly used class A drug, and the first report of cocaine-induced stroke was in 1977. Since the development of alkaloidal "crack" cocaine in the 19...

    journal_title:Postgraduate medical journal

    pub_type: 杂志文章,评审

    doi:10.1136/pgmj.2006.055970

    authors: Treadwell SD,Robinson TG

    更新日期:2007-06-01 00:00:00

  • Metronidazole v. cefoxitin in severe appendicitis--a trial to compare a single intraoperative dose of two antibiotics given intravenously.

    abstract::In severe appendicitis, the effect of a single intravenous dose of metronidazole (500 mg) was compared with cefoxitin (1 g). The antibiotics were given by random allocation once the diagnosis had been established at operation. In the metronidazole group, 5 out of 48 patients developed a wound infection whilst in hospi...

    journal_title:Postgraduate medical journal

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1136/pgmj.59.697.720

    authors: Corder AP,Bates T,Prior JE,Harrison M,Donaldson PJ

    更新日期:1983-11-01 00:00:00

  • Complex gynaecological and urological problems in adolescents: challenges and transition.

    abstract::The diagnosis and early management of genitourinary disorders in children is challenging for the child, parents and carers. There have been enormous developments in paediatric care medically and surgically and as a result many patients with complex anomalies reach adult life and have a normal desire for a good quality...

    journal_title:Postgraduate medical journal

    pub_type: 杂志文章,评审

    doi:10.1136/postgradmedj-2012-131232

    authors: Creighton SM,Wood D

    更新日期:2013-01-01 00:00:00

  • Lysozyme: a brief review.

    abstract::Serum lysozyme (muramidase) estimation is a simple, convenient and useful laboratory investigation. A review of the literature shows that lysozyme has been implicated as an aetiological factor in various disorders, and credited with being a prognostic indicator in acute myeloid leukaemia, but these promises have not b...

    journal_title:Postgraduate medical journal

    pub_type: 杂志文章

    doi:10.1136/pgmj.53.619.257

    authors: Mir MA

    更新日期:1977-05-01 00:00:00

  • Junior doctors' views on reporting concerns about patient safety: a qualitative study.

    abstract:BACKGROUND:Enabling healthcare staff to report concerns is critical for improving patient safety. Junior doctors are one of the groups least likely to engage in incident reporting. This matters both for the present and for the future, as many will eventually be in leadership positions. Little is known about junior doct...

    journal_title:Postgraduate medical journal

    pub_type: 杂志文章

    doi:10.1136/postgradmedj-2014-133045

    authors: Hooper P,Kocman D,Carr S,Tarrant C

    更新日期:2015-05-01 00:00:00

  • The role of exercise testing in the evaluation and management of heart failure.

    abstract::The clinical syndrome of heart failure has been investigated so extensively that it may now almost be regarded as a metabolic disorder. Although an initial insult reduces cardiac pump efficacy, the resultant physiological response culminates in complex neurohormonal dysfunction. This has created confusion and prevente...

    journal_title:Postgraduate medical journal

    pub_type: 杂志文章,评审

    doi:10.1136/pgmj.75.886.453

    authors: Wright DJ,Tan LB

    更新日期:1999-08-01 00:00:00

  • Pediatric Emergency Care Applied Research Network head injury clinical prediction rules are reliable in practice.

    abstract:OBJECTIVE:The Pediatric Emergency Care Applied Research Network (PECARN) traumatic brain injury (TBI) age-based clinical prediction rules identify children at very low risk of a significant head injury who can safely avoid CT. Our goal was to independently validate these prediction rules. DESIGN:Cross-sectional study....

    journal_title:Postgraduate medical journal

    pub_type: 杂志文章

    doi:10.1136/postgradmedj-2013-305004rep

    authors: Schonfeld D,Bressan S,Da Dalt L,Henien MN,Winnett JA,Nigrovic LE

    更新日期:2015-11-01 00:00:00

  • Fulminant hepatic failure in nephrotic syndrome related to withdrawal of immunosuppressive therapy.

    abstract::Two patients with nephrotic syndrome developed fatal fulminant hepatitis B following withdrawal of prednisolone or cyclophosphamide. Immunosuppressive therapy probably enhanced hepatitis B virus (HBV) replication and widespread infection of hepatocytes; its withdrawal permitted a return of immune competence resulting ...

    journal_title:Postgraduate medical journal

    pub_type: 杂志文章

    doi:10.1136/pgmj.64.750.325

    authors: Onwubalili JK

    更新日期:1988-04-01 00:00:00

  • Prognostic factors in Wegener's granulomatosis.

    abstract::We analysed data from 64 patients with Wegener's granulomatosis to determine predictor variables of outcome. The mean period of observation after the diagnosis had been established was 3.2 (range 0.1-11.2) years. At the time of diagnosis, 15 (23%) patients had only local symptoms. The disease was generalized to multip...

    journal_title:Postgraduate medical journal

    pub_type: 杂志文章

    doi:10.1136/pgmj.69.817.856

    authors: Briedigkeit L,Kettritz R,Göbel U,Natusch R

    更新日期:1993-11-01 00:00:00

  • Severe thiazide-induced hyponatraemia during treatment with enalapril.

    abstract::A patient is described who developed mild hyponatraemia on two occasions when treated with bendrofluazide alone, but severe hyponatraemia when treated with the combination of enalapril and bendrofluazide. ...

    journal_title:Postgraduate medical journal

    pub_type: 杂志文章

    doi:10.1136/pgmj.63.746.1105

    authors: Collier JG,Webb DJ

    更新日期:1987-12-01 00:00:00

  • Multiple strokes after initiation of steroid therapy in giant cell arteritis.

    abstract::We report the case of a 66 year old woman with clinical manifestations of giant-cell arteritis, positive temporal artery biopsy and excellent response to prednisone, who developed massive cerebral infarcts after 5 days of treatment. Computed tomographic and magnetic resonance imaging scans revealed multiple infarcts i...

    journal_title:Postgraduate medical journal

    pub_type: 杂志文章

    doi:10.1136/pgmj.70.821.228

    authors: Collazos J,García-Moncó C,Martín A,Rodriguez J,Gómez MA

    更新日期:1994-03-01 00:00:00

  • Republished review: Tourette's syndrome and other tic disorders.

    abstract::Tourette's syndrome is a neuropsychiatric disorder characterised by motor and phonic tics. Although tics are common in children, only about 1% of those affected meet the criteria for Tourette's syndrome, and many are not disabled by it. Associated problems such as attention deficit hyperactivity disorder and obsessive...

    journal_title:Postgraduate medical journal

    pub_type: 杂志文章

    doi:10.1136/pgmj.2010.223685rep

    authors: Rickards H

    更新日期:2011-02-01 00:00:00

  • Diagnosis and treatment in inflammatory neuropathies.

    abstract::The inflammatory neuropathies are a large diverse group of immune-mediated neuropathies that are amenable to treatment and may be reversible. Their accurate diagnosis is essential for informing the patient of the likely course and prognosis of the disease, informing the treating physician of the appropriate therapy an...

    journal_title:Postgraduate medical journal

    pub_type: 杂志文章

    doi:10.1136/jnnp.2008.158303

    authors: Lunn MP,Willison HJ

    更新日期:2009-08-01 00:00:00