• Wiberg Roberson posted an update 6 months, 1 week ago

    Optical coherence tomography angiography imaging in two patients with oculocutaneous albinism, one with severe nystagmus, showed persistence of both the superficial and the deep retinal capillary plexus adding another vascular feature to the foveal hypoplasia.A 21-year-old woman visited out hospital for lower abdominal pain and bloody diarrhoea at 19 weeks of pregnancy. Endoscopic findings revealed longitudinal ulcerations with hyperaemia and oedema in the sigmoid colon. These findings and clinical presentation confirmed the diagnosis of ischaemic colitis. Conservative treatment, including fasting and intravenous hydration, was administered, and the patient made a good recovery. After discharge, there was no recurrence during pregnancy and postpartum period. It is important to make early diagnosis and treatment, and multidisciplinary teamwork between obstetricians, gastroenterologist and endoscopist is required.Scar endometriosis is a rare condition highly related to history of abdominal surgery. Due to the low incidence, it is often misdiagnosed. A woman presented to the surgery outpatient clinic with a mass near her C-section scar. Physical examination and ultrasound suggested Incisional Hernia while intraoperative finding revealed a mass suggestive of endometriosis which later confirmed by pathology examination. Scar endometriosis is a common subtype of extra-pelvic endometriosis. Iatrogenic transplantation is speculated to be its etiopathogenesis. Preoperatively, it is challenging to differentiate endometriosis from another abdominal masses. The definitive diagnosis is based on laparoscopy or surgery with histological verification. Chronic pain is complex and often involves multiple factors beyond simply a diagnosis of endometriosis, but it is important to think of endometriosis on women patients presenting with a mass and cyclic pain with history of surgery involving a large amount of endometrial cell.Neuromyelitis optica spectrum disorder (NMOSD) is an uncommon antibody-mediated disease of the central nervous system, often associated with aquaporin-4 antibodies (AQP4-Ab). NMOSD may present as a subacute myelopathy, progressing over days with MRI revealing a contiguous inflammatory lesion of the spinal cord, ≥3 vertebral segments, a longitudinally extensive transverse myelitis. We describe an unusual paraneoplastic form of AQP4-Ab NMOSD that developed in a patient with an advanced diffuse large B-cell lymphoma. The patient had an unusual hyperacute onset, reaching a clinical nadir within hours.We present a case of a 25-year-old man who came to our Endocrine Clinic for evaluation of short stature. He had a history of sensorineural hearing loss, hypertrichosis and hyperpigmentation with the thickening of the skin below the hip, gynecomastia and autoimmune haemolytic anaemia. Investigations showed that he had hypergonadotropic hypogonadism. His phenotype was consistent with that of a rare autosomal recessive genodermatosis of ‘H-syndrome’. VTX-27 The diagnosis was confirmed by genetic analysis using next-generation sequencing which showed a homozygous mutation in the SLC29A3 gene (variant c.1330G>T (p.Glu444Ter)) which was confirmed by Sanger sequencing. This is a rare syndrome with around 100 cases reported in world literature. Though the skin manifestations are pathognomonic of the H-syndrome, it has myriad presentations like short stature, insulin-dependent diabetes mellitus, hypogonadism, hypothyroidism, dyslipidaemia, cardiac anomalies and sensorineural hearing loss. We report this case to highlight the constellation of features of this rare syndrome and bring awareness among the physicians to be vigilant about this syndrome.

    GPs have limited capacity to routinely provide smoking cessation support. New strategies are needed to reach all smokers within this setting.

    To evaluate the effect of a pharmacist-coordinated interdisciplinary smoking cessation intervention delivered in Australian general practice.

    Secondary analysis of a cluster randomised controlled trial (RCT) conducted in 41 Australian general practices.

    In all, 690 current smokers were included in this study 373 from intervention clinics (

    = 21) and 317 from control clinics (

    = 18). A total of 166 current smokers had spirometry-confirmed chronic obstructive pulmonary disease (COPD). In the intervention clinics, trained pharmacists provided smoking cessation support plus Quitline referral. Control clinics provided usual care plus Quitline referral. Those with COPD in the intervention group (

    = 84) were referred for home medicines review (HMR) and home-based pulmonary rehabilitation (HomeBase), which included further smoking cessation support. Outcomes incluvaluate the effect of HMR and home-based pulmonary rehabilitation on smoking abstinence in smokers with COPD.

    Gestational diabetes mellitus (GDM) is an important risk factor for developing type 2 diabetes mellitus (T2DM) later in life. Postpartum screening provides an opportunity for early detection and management of T2DM, but uptake is poor.

    To explore barriers to screening from clinicians’ perspectives to guide future interventions to increase uptake of postpartum screening.

    Systematic review and qualitative synthesis.

    Qualitative studies included in a previous review were assessed, and then five electronic databases were searched from January 2013 to May 2019 for qualitative studies reporting clinicians’ perspectives on postpartum glucose screening after GDM. Study quality was assessed against the Critical Appraisal Skills Programmes checklist. Qualitative data from the studies were analysed using thematic synthesis.

    Nine studies were included, containing views from 187 clinicians from both community and hospital care. Three main themes were identified difficulties in handover between primary and secondafessionals and better systems for recall are needed. These could be achieved through registers, improved clinical protocols, and automatic flagging and prompts within electronic medical records. At the individual level, clinicians should be supported to prioritise the importance of screening within consultations and better educational resources made available for women. Making it more convenient for women to attend may also facilitate screening.

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