RESUMO
See-saw nystagmus (SSN) is a rare form of nystagmus characterised by alternating elevation with incyclotorsion of one eye and concomitant depression with excyclotorsion of the other eye, often due to abnormalities involving the midbrain and parasellar region. Herein, we highlight a rare case of pendular SSN, which demonstrated complete resolution following resection of a pituitary macroadenoma. A patient in their 40s was identified to have SSN and was diagnosed with a pituitary macroadenoma. They underwent an endoscopic endonasal transsellar approach for resection of the pituitary adenoma. Their nystagmus resolved immediately after surgery. From a review of the literature, resolution and/or significant improvement in SSN occurred in 74% of cases following treatment, with 100%, 86% and 50% following treatment for medication-induced, neurological infarcts, and mass-effect aetiologies of SSN, respectively. SSN is a rare entity with a wide array of aetiologies. Identification of the causative aetiology and appropriate treatment can lead to significant improvement or resolution of the nystagmus in most cases.
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Transient visual obscurations (TVOs) represent brief ischaemic events of the optic nerve. These most commonly occur in the setting of raised intracranial pressure or more localised aetiologies within the orbit that result in decreased perfusion pressure. Transient vision loss has rarely been associated with pituitary tumours or optic chiasm compression, but details are lacking. We describe classic TVOs that completely resolved following resection of a pituitary macroadenoma causing chiasmal compression with a relatively normal eye examination. Clinicians should consider neuro-imaging in patients with TVOs and a normal evaluation.
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Lacrimal sac squamous cell carcinoma is a rare but life-threatening disease that is often a delayed diagnosis secondary to difficulty in differentiating from other causes of dacrocystitis and acquired nasolacrimal duct obstruction. Chronic inflammation, including that of an underlying autoimmune disease, prior instrumentation, and poor wound healing, may be risk factors in the development to lacrimal sac squamous cell carcinoma. The authors present the first case of lacrimal sac squamous cell carcinoma associated with antineutrophil cytoplasmic antibody-associated vasculitis and immunoglobulin G4 positivity. Rather than an overlap syndrome between antineutrophil cytoplasmic antibody-associated vasculitis and immunoglobulin G4-related disease, high immunoglobulin G4 positivity may be considered an inflammatory marker of disease severity in the setting of antineutrophil cytoplasmic antibody-associated vasculitis and underlying malignancy. Inflammation-mediated tumorangiogenesis should be considered in the development of malignancy and red flags of chronic uncontrolled inflammation should warrant a lower threshold for further workup.
Assuntos
Doenças Autoimunes , Carcinoma de Células Escamosas , Obstrução dos Ductos Lacrimais , Ducto Nasolacrimal , Vasculite , Anticorpos Anticitoplasma de Neutrófilos , Doenças Autoimunes/complicações , Carcinoma de Células Escamosas/patologia , Humanos , Imunoglobulina G , Inflamação , Obstrução dos Ductos Lacrimais/diagnóstico , Ducto Nasolacrimal/patologiaRESUMO
Postoperative endophthalmitis caused by Rothia mucilaginosa, a gram-positive, coagulase-negative Micrococcaceae of the oropharyngeal flora, is rare and all previously reported intraocular implant-related cases have resulted in evisceration. R. mucilaginosa endophthalmitis has also not been described with any glaucoma implant device. Here, the authors report a case of subacute R. mucilaginosa endophthalmitis after phacoemulsification with implantation of an intraocular lens and the iStent inject (Glaukos). The infection was managed with intravitreal antibiotic injections, pars plana vitrectomy, and intraocular lens and iStent explantations. This was followed by a second pars plana vitrectomy and silicone oil tamponade for a tractional retinal detachment. Nine months after the initial presentation, vision in the affected eye was partially preserved, and the globe remained intact. R. mucilaginosa infections are associated with grave outcomes due to biofilm formation on infected implants, and as such, removal of infected implants is advised.
Assuntos
Endoftalmite , Micrococcaceae , Endoftalmite/diagnóstico , Endoftalmite/tratamento farmacológico , Endoftalmite/etiologia , Humanos , Pressão Intraocular , Vitrectomia/efeitos adversosRESUMO
BACKGROUND: Subphrenic abscess is rare after cesarean section. METHODS: Case report and review of the pertinent world literature CASE REPORT: A 22 year-old primigravida underwent a lower-segment cesarean section in the setting of chorioamnionitis, and had a good postoperative recovery initially. Eleven days after surgery, dyspnea and fever prompted a computed tomography scan, which revealed a large subphrenic abscess. The abscess resolved with percutaneous drainage and intravenous antibiotics. A placental swab, baby's skin swab, and abscess aspirate all grew group B Streptococcus. CONCLUSION: Although subphrenic abscess is rare in obstetric practice, it should be suspected in patients who remain unwell after chorioamnionitis.
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Cesárea/efeitos adversos , Corioamnionite/microbiologia , Complicações Infecciosas na Gravidez/microbiologia , Infecções Estreptocócicas/microbiologia , Streptococcus agalactiae/isolamento & purificação , Abscesso Subfrênico/microbiologia , Adulto , Feminino , Humanos , Gravidez , Infecções Estreptocócicas/diagnóstico por imagem , Abscesso Subfrênico/diagnóstico por imagem , Tomografia Computadorizada por Raios XRESUMO
Thromboelastography with platelet mapping (TEG-PM) is a modality to measure platelet function, especially in patients taking antiplatelet medications. It consists of two components: arachidonic acid (AA), which is sensitive to aspirin, and adenosine diphosphate (ADP), which is sensitive to clopidogrel. In patients with spontaneous intracerebral hemorrhages (sICH), the clinical interpretation of platelet mapping is unclear. The objective of this study was to evaluate TEG-PM in patients with sICH on aspirin and/or clopidogrel who receive platelet transfusions. This study was an IRB-approved, retrospective case-control study over three years at an academic medical center. Adult patients with sICH were included if they had an admission computed tomography head (CTH) and platelet mapping followed by a repeat platelet mapping and CTH post platelet transfusion. A threshold of 50% inhibition was used as the benchmark for both ADP and AA inhibition. Around 248 subjects with sICH were identified, and 107 were excluded for incomplete documentation, leaving 141 for analysis. Of these, nine met our inclusion criteria. No statistical significance was found on the antithrombotic effects of aspirin or clopidogrel on TEG-PM (p=1.00 for both). Sensitivity and specificity of TEG-PM for clopidogrel was 100% and 42.9%, respectively, and 80% and 0%, respectively, for aspirin. Platelet transfusion did not significantly change AA or ADP inhibition (p=1.00). Hemorrhagic expansion on CTH was not associated with a decrease AA or ADP inhibition (p=1.00). TEG-PM is not an effective measure of platelet inhibition in sICH patients who were on antiplatelet medications and is not a reliable measurement following platelet transfusion.
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Obstetric cholestasis is associated with maternal morbidity and adverse foetal outcomes. No information on local incidence is available. We present our experience with eight consecutive cases of obstetric cholestasis diagnosed between January 2003 and December 2005 in a regional hospital in Hong Kong. Three patients presented with pruritus without rash, three with impaired liver function, and two with elevated blood pressure postpartum. Meconium-stained liquor was present in five patients and four had spontaneous preterm delivery (between 34 and 36 weeks). The higher the bile acid level, the more marked the prematurity (correlation coefficient, -0.771; P=0.025). All those presenting with itchiness delivered preterm. Two patients developed pre-eclampsia. The rates of labour induction and abdominal delivery were both 38%. Heightened awareness among clinicians is required to recognise patients with obstetric cholestasis. Affected pregnancies are associated with meconium passage and prematurity. In our locality, affected women may also have an increased risk of pre-eclampsia. In affected women, the bile acid level is useful in assessing the risk of prematurity.
Assuntos
Colestase Intra-Hepática/complicações , Trabalho de Parto Prematuro/etiologia , Complicações na Gravidez/epidemiologia , Nascimento Prematuro/etiologia , Adulto , Ácidos e Sais Biliares/sangue , Cesárea , Colestase Intra-Hepática/epidemiologia , Feminino , Hong Kong/epidemiologia , Hospitais , Humanos , Hipertensão/etiologia , Incidência , Recém-Nascido , Testes de Função Hepática , Mecônio/metabolismo , Período Pós-Parto , Pré-Eclâmpsia/etiologia , Gravidez , Prurido/etiologiaRESUMO
We present two cases of postmaturity-related perinatal mortality with delivery at 42 weeks 6 days' and 44 weeks' gestation, respectively. No cause beyond postmaturity was found. Neither induction of labour nor foetal monitoring had been performed despite these gestations going post 41 weeks because of a current 'social obstetrics' phenomenon--non-local expectant mothers coming to Hong Kong from mainland China for delivery.
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Criança Pós-Termo , Mortalidade Perinatal , Gravidez Prolongada/etnologia , Natimorto/etnologia , Viagem/estatística & dados numéricos , Adulto , China/etnologia , Feminino , Hong Kong/epidemiologia , Humanos , Recém-Nascido , Criança Pós-Termo/fisiologia , Unidade Hospitalar de Ginecologia e Obstetrícia/estatística & dados numéricos , Gravidez , Gravidez Prolongada/economia , Gravidez Prolongada/mortalidade , Cuidado Pré-Natal , Fatores SocioeconômicosRESUMO
OBJECTIVE: To assess the usefulness of amniotic fluid index (AFI) in the assessment of postdate pregnancies. STUDY DESIGN: A prospective, observational study was carried out on the AFI of 118 well-dated postdate pregnancies at 41 weeks within 2 days of delivery. The AFI quartile distribution was determined and correlated with the risk of thick meconium-stained liquor (MSL), intervention for fetal distress and admission to the special care baby unit (SCBU). RESULTS: The median AFI was 8 cm, with a range from 1-33 cm. There was a significant inverse correlation between the occurrence of thick MSL, intervention for fetal distress and SCBU admission. Logistic regression analysis, upon adjusting for possible confounding factors, showed that only AFI in the 2 lower quartiles combined (< or = 8 cm) had a significant association with the risk of thick MSL (adjusted OR 11.0, 95th CI 2.43-49.8) but not admission to the SCBU. AFI in the lowest quartile (< or = 5 cm) had a significant association with the risk of intervention for fetal distress only (adjusted OR 7.95, 95th CI 1.67-37.7). CONCLUSION: Although AFI may be used to predict the occurrence of thick MSL and the need for intervention for fetal distress in postdate pregnancies, its role on its own is limited.
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Líquido Amniótico/fisiologia , Unidades de Terapia Intensiva Neonatal/estatística & dados numéricos , Mecônio , Terceiro Trimestre da Gravidez , Gravidez Prolongada/fisiopatologia , Adulto , Feminino , Sofrimento Fetal , Idade Gestacional , Humanos , Recém-Nascido , Modelos Logísticos , Gravidez , Resultado da Gravidez , Estudos ProspectivosAssuntos
Anomalia de Ebstein , Edema , Complicações na Gravidez , Adulto , Feminino , Humanos , Hidropisia Fetal , Hipotireoidismo , Recém-Nascido , Gravidez , SíndromeRESUMO
OBJECTIVES: To validate the clinical efficacy and practical feasibility of massively parallel maternal plasma DNA sequencing to screen for fetal trisomy 21 among high risk pregnancies clinically indicated for amniocentesis or chorionic villus sampling. DESIGN: Diagnostic accuracy validated against full karyotyping, using prospectively collected or archived maternal plasma samples. SETTING: Prenatal diagnostic units in Hong Kong, United Kingdom, and the Netherlands. PARTICIPANTS: 753 pregnant women at high risk for fetal trisomy 21 who underwent definitive diagnosis by full karyotyping, of whom 86 had a fetus with trisomy 21. Intervention Multiplexed massively parallel sequencing of DNA molecules in maternal plasma according to two protocols with different levels of sample throughput: 2-plex and 8-plex sequencing. MAIN OUTCOME MEASURES: Proportion of DNA molecules that originated from chromosome 21. A trisomy 21 fetus was diagnosed when the z score for the proportion of chromosome 21 DNA molecules was >3. Diagnostic sensitivity, specificity, positive predictive value, and negative predictive value were calculated for trisomy 21 detection. RESULTS: Results were available from 753 pregnancies with the 8-plex sequencing protocol and from 314 pregnancies with the 2-plex protocol. The performance of the 2-plex protocol was superior to that of the 8-plex protocol. With the 2-plex protocol, trisomy 21 fetuses were detected at 100% sensitivity and 97.9% specificity, which resulted in a positive predictive value of 96.6% and negative predictive value of 100%. The 8-plex protocol detected 79.1% of the trisomy 21 fetuses and 98.9% specificity, giving a positive predictive value of 91.9% and negative predictive value of 96.9%. CONCLUSION: Multiplexed maternal plasma DNA sequencing analysis could be used to rule out fetal trisomy 21 among high risk pregnancies. If referrals for amniocentesis or chorionic villus sampling were based on the sequencing test results, about 98% of the invasive diagnostic procedures could be avoided.
Assuntos
Síndrome de Down/diagnóstico , Diagnóstico Pré-Natal/métodos , Análise de Sequência de DNA/métodos , Adulto , Estudos de Casos e Controles , DNA/sangue , Feminino , Humanos , Cariotipagem/métodos , Masculino , Idade Materna , Gravidez , Curva ROC , Sensibilidade e Especificidade , Processos de Determinação SexualRESUMO
Massively parallel sequencing of DNA molecules in the plasma of pregnant women has been shown to allow accurate and noninvasive prenatal detection of fetal trisomy 21. However, whether the sequencing approach is as accurate for the noninvasive prenatal diagnosis of trisomy 13 and 18 is unclear due to the lack of data from a large sample set. We studied 392 pregnancies, among which 25 involved a trisomy 13 fetus and 37 involved a trisomy 18 fetus, by massively parallel sequencing. By using our previously reported standard z-score approach, we demonstrated that this approach could identify 36.0% and 73.0% of trisomy 13 and 18 at specificities of 92.4% and 97.2%, respectively. We aimed to improve the detection of trisomy 13 and 18 by using a non-repeat-masked reference human genome instead of a repeat-masked one to increase the number of aligned sequence reads for each sample. We then applied a bioinformatics approach to correct GC content bias in the sequencing data. With these measures, we detected all (25 out of 25) trisomy 13 fetuses at a specificity of 98.9% (261 out of 264 non-trisomy 13 cases), and 91.9% (34 out of 37) of the trisomy 18 fetuses at 98.0% specificity (247 out of 252 non-trisomy 18 cases). These data indicate that with appropriate bioinformatics analysis, noninvasive prenatal diagnosis of trisomy 13 and trisomy 18 by maternal plasma DNA sequencing is achievable.