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BACKGROUND: Cushing's syndrome occurs due to overproduction of cortisol from adrenal glands. Endogenous hypercortisolemia can occur secondary to adrenocorticotropic hormone (ACTH) dependent as well as independent causes. The presence of non-specific symptoms and signs contributes to a delay in diagnosis. Early identification and prompt definitive management is crucial. It is important to be alert about the post-operative complications including multiple thrombotic phenomena, which can add to the mortality. We report a case of Cushing's disease in a young female managed with trans-sphenoidal surgery, followed by a challenging post-operative period complicated with multiple thrombotic phenomena, ultimately succumbed. CASE PRESENTATION: A 32-year-old Sri Lankan female presented with overt features of Cushing's syndrome and diagnosed to have ACTH dependent Cushing's disease with pituitary microadenoma. She underwent trans-sphenoidal surgery, following which she developed fatal multiple complications including diverticular rupture and ischemic colitis, needing hemicolectomy, followed by a parieto-occipital infarction. CONCLUSION: This case highlights important and aggressive complications associated with Cushing's syndrome giving rise to a challenging post-operative course. Diverticular rupture had been described in association with hypercortisolemia and this case adds to the existing literature. Post-operative ischemic colitis and stroke which contributed to the death of this patient could have been due to the procoagulant state associated with Cushing's syndrome, with a high risk during the immediate post-operative period. This emphasizes the need to consider post-operative thromboprophylaxis in patients undergoing surgery for Cushing's syndrome.
Assuntos
Adenoma Hipofisário Secretor de ACT/cirurgia , Adenoma/cirurgia , Hipersecreção Hipofisária de ACTH/complicações , Complicações Pós-Operatórias/etiologia , Acidente Vascular Cerebral/etiologia , Adenoma Hipofisário Secretor de ACT/complicações , Adenoma Hipofisário Secretor de ACT/diagnóstico por imagem , Adenoma/complicações , Adenoma/diagnóstico por imagem , Adulto , Doença Diverticular do Colo/complicações , Evolução Fatal , Feminino , Humanos , Perfuração Intestinal/etiologia , Cirurgia Endoscópica por Orifício NaturalRESUMO
The coronavirus disease 2019 (COVID-19) pandemic has emerged as one of the greatest challenges faced by humankind in the recent past. People with diabetes and related comorbidities are at increased risk of its complications and of COVID-19-related death. Older age, multi-morbidity, hyperglycaemia, cardiac injury and severe inflammatory response are predictors of poor outcome. The complex interplay between COVID-19, diabetes and the effects of related therapies is being explored. Most patients experience a mild illness with COVID-19, while people with diabetes are at increased risk of severe disease. Optimising glycaemic control and adopting measures to prevent disease spread are critical aspects. The management of mild disease is supportive, while very many immunomodulatory and antiviral therapies are being investigated for the treatment of severe disease. Several of these agents have specific considerations for use in people with diabetes. Since mass population lockdowns are considered a key step in controlling disease spread, it follows that, in addition to the direct vulnerability to severe COVID-19, people with diabetes can be affected by limited access to healthcare, insulin, other medications and blood glucose monitoring equipment. Measures to prevent disease spread at the individual and community level are the key to mitigating the rapidly escalating pandemic, while agents for chemoprophylaxis and vaccines are being explored. People with diabetes should be recognised as a vulnerable group for complicated disease and are at risk during times of disturbed social systems. Strategies are needed to safeguard the health of patients with diabetes during the pandemic. This review summarises the current knowledge and perceived challenges for prevention and management of COVID-19 in people with diabetes.
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Betacoronavirus/patogenicidade , Infecções por Coronavirus/prevenção & controle , Diabetes Mellitus/virologia , Pandemias/prevenção & controle , Pneumonia Viral/prevenção & controle , Glicemia/metabolismo , COVID-19 , Comorbidade , Infecções por Coronavirus/sangue , Infecções por Coronavirus/complicações , Humanos , Pneumonia Viral/sangue , Pneumonia Viral/complicações , SARS-CoV-2RESUMO
BACKGROUND: Dyskeratosis congenita (DC) is a rare genetic disorder of bone marrow failure inherited in an X-linked, autosomal dominant or autosomal recessive pattern. It has a wide array of clinical features and patients may be cared for by many medical sub specialties. The typical clinical features consist of lacy reticular skin pigmentation, nail dystrophy and oral leukoplakia. As the disease advances, patients may develop progressive bone marrow failure, pulmonary fibrosis, oesophageal stenosis, urethral stenosis, liver cirrhosis as well as haematological and solid malignancies. Several genes have been implicated in the pathogenesis of dyskeratosis congenita, with the dyskerin pseudouridine synthase 1 (DKC1) gene mutations being the X-linked recessive gene. CASE PRESENTATION: Herein, we report a 31-year-old male with history of recurrent febrile episodes who was found to have reticulate skin pigmentation interspersed with hypopigmented macules involving the face, neck and extremities, hyperkeratosis of palms and soles, nail dystrophy, leukoplakia of the tongue, premature graying of hair, watery eyes and dental caries. Several of his male relatives, including two maternal uncles and three maternal cousins were affected with a similar type of disease condition. Pedigree analysis suggested a possible X-linked pattern of inheritance. Genetic testing in the proband showed a novel hemizygous, non-synonymous likely pathogenic variant [NM_001363.4: c.1054A > G: p.Thr352Ala] in the PUA domain of the DKC1 gene. Quantitative polymerase chain reaction for relative telomere length measurements performed in the proband showed that he had very short telomeres [0.38, compared to a control median of 0.71 (range 0.44-1.19)], which is consistent with the DC diagnosis. Co-segregation analysis of the novel mutation and telomere length measurements in the extended family members could not be performed as they were unwilling to provide consent for testing. CONCLUSIONS: The novel variant detected in the DKC1 gene adds further to the existing scientific literature on the genotype-phenotype correlation of DC, and has important implications for the clinical and molecular characterization of the disease.
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Proteínas de Ciclo Celular/genética , Disceratose Congênita/genética , Hemizigoto , Proteínas Nucleares/genética , Mutação Puntual , Adulto , Proteínas de Ciclo Celular/química , Humanos , Masculino , Proteínas Nucleares/química , Linhagem , Domínios Proteicos , Análise de Sequência de DNA , Homeostase do TelômeroRESUMO
BACKGROUND: Amoebic liver abscess is the most common extra intestinal manifestation of amoebiasis in tropical countries. It usually presents with right hypochondrial pain, fever and anorexia. Amoebic liver abscess has gained clinical significance due to the wide variety of clinical presentations which can cause diagnostic dilemmas and high mortality in untreated cases. CASE PRESENTATION: We report a case of a 63-year-old male with a history of anorexia for 3 weeks, fever for 4 days and examination findings of tender hepatomegaly with a liver span of 15 cm in the mid clavicular line and a firm irregular mass in the right iliac fossa. Ultrasound scan of the abdomen showed two large liver abscesses with one of them leaking into the peritoneal cavity causing a localized pus collection, which had been walled off in the right iliac fossa. He was treated with metronidazole and liver abscesses were drained percutaneously under ultrasound scan guidance. The diagnosis of Entamoeba histolytica infection was confirmed with the serology and subsequently by PCR from the aspirated material. He made an uneventful recovery with resolution of the symptoms and right iliac fossa mass. CONCLUSION: Recognition of variable presentation of amoebic liver abscess is vital, considering the curable nature of this disease and potentially fatal outcome of untreated abscess. An intra-abdominal mass in a patient with amoebic liver abscess should raise the suspicion of a localized collection of pus and impending generalized peritonitis. Early diagnosis and prompt intervention can prevent the dreaded complication of peritonitis and toxemia, and hence reduce the consequent morbidity and mortality.
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Entamebíase/diagnóstico , Abscesso Hepático Amebiano/diagnóstico , Abdome/diagnóstico por imagem , Drenagem , Entamoeba histolytica/patogenicidade , Entamebíase/tratamento farmacológico , Febre/tratamento farmacológico , Humanos , Abscesso Hepático Amebiano/tratamento farmacológico , Abscesso Hepático Amebiano/patologia , Masculino , Metronidazol/uso terapêutico , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , UltrassonografiaRESUMO
AIMS: SGLT2 inhibitors provide cardiovascular and renal protection in people with type 2 diabetes (T2DM). Real-world data on their effect on improving glucose and cardiovascular risk factors, and adverse effects in South Asians are limited. METHODS: We retrospectively analyzed clinical, demographic, anthropometric and biochemical data among adults with T2DM, commenced on empagliflozin and followed up for at least one month in a diabetes clinic in Colombo. RESULTS: Among 1523 participants (men 49.6 %, age 54.9 (± 10.8) years, diabetes duration 11.5 (± 7.6) years, body mass index 28.2 (± 4.5 kg/m2), over a median follow up of 12 months (range: 1-24 months), reduction in HbA1c, weight, systolic blood pressure (SBP) and urine albumin-creatinine ratio were evident within the first month. Benefits sustained up to two-years (mean changes from baseline: HbA1c - 0.31 (± 1.49), weight - 1.14 (± 4.17), SBP - 3.44 (± 21.75), UACR - 19.84 (± 108.22) follow up. eGFR declined by the third month, returned to baseline by 12th and remained stable over 24 months. Higher baseline HbA1c, weight and SBP predicted greater decline in HbA1c, weight and SBP respectively. Weight reduction independently predicted the SBP reduction. Eighteen participants per 100 patient-years discontinued therapy due to adverse effects: genital mycotic infections and features of hypovolaemia were the commonest. We observed only two events of diabetic ketoacidosis. CONCLUSIONS: Empagliflozin effectively improves glucose, weight and SBP and retards progression of renal impairment in South Asians with T2D. Genital mycotic infections and hypovolaemia were the commonest reasons for discontinuation. Careful patient selection and advice can avoid other sinister complications.
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Doenças Cardiovasculares , Diabetes Mellitus Tipo 2 , Masculino , Adulto , Humanos , Pessoa de Meia-Idade , Diabetes Mellitus Tipo 2/diagnóstico , Diabetes Mellitus Tipo 2/tratamento farmacológico , Hemoglobinas Glicadas , Hipovolemia/diagnóstico , Hipovolemia/induzido quimicamente , Hipovolemia/complicações , Sri Lanka/epidemiologia , Estudos Retrospectivos , População do Sul da Ásia , Compostos Benzidrílicos/efeitos adversos , GlucoseRESUMO
End TB strategy by the WHO suggest active screening of high-risk populations for tuberculosis (TB) to improve case detection. Present study generates evidence for the effectiveness of screening patients with diabetes mellitus (DM) for Pulmonary TB (PTB). A study was conducted among 4548 systematically recruited patients over 45 years attending DM clinic at the National Hospital of Sri Lanka. The study units followed an algorithm specifying TB symptom and risk factor screening for all, followed by investigations and clinical assessments for those indicated. Bacteriologically confirmed or clinically diagnosed PTB were presented as proportions with 95% CI. Mean (SD) age was 62·5 (29·1) years. Among patients who completed all indicated steps of algorithm, 3500 (76·9%) were investigated and 127 (2·8%) underwent clinical assessment. Proportion of bacteriologically confirmed PTB patients was 0·1% (n = 6,95%CI = 0·0-0·3%). None were detected clinically. Analysis revealed PTB detection rates among males aged ≥60 years with HbA1c ≥ 8 to be 0·4% (n = 2, 95%CI = 0·0-1·4%). The study concludes that active screening for PTB among all DM patients at clinic settings in Sri Lanka, to be non-effective measure to enhance TB case finding. However, the sub-category of diabetic males with uncontrolled diabetics who are over 60 years of age is recommended as an option to consider for active screening for PTB.
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Diabetes Mellitus/diagnóstico , Tuberculose Pulmonar/diagnóstico , Idoso , Estudos Transversais , Feminino , Humanos , Masculino , Programas de Rastreamento/métodos , Pessoa de Meia-Idade , Fatores de Risco , Sri Lanka , Centros de Atenção TerciáriaRESUMO
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus has spread across the globe rapidly causing an unprecedented pandemic. Because of the novelty of the disease, the possible impact on the endocrine system is not clear. To compile a mini-review describing possible endocrine consequences of SARS-CoV-2 infection, we performed a literature survey using the key words Covid-19, Coronavirus, SARS CoV-1, SARS Cov-2, Endocrine, and related terms in medical databases including PubMed, Google Scholar, and MedARXiv from the year 2000. Additional references were identified through manual screening of bibliographies and via citations in the selected articles. The literature review is current until April 28, 2020. In light of the literature, we discuss SARS-CoV-2 and explore the endocrine consequences based on the experience with structurally-similar SARS-CoV-1. Studies from the SARS -CoV-1 epidemic have reported variable changes in the endocrine organs. SARS-CoV-2 attaches to the ACE2 system in the pancreas causing perturbation of insulin production resulting in hyperglycemic emergencies. In patients with preexisting endocrine disorders who develop COVID-19, several factors warrant management decisions. Hydrocortisone dose adjustments are required in patients with adrenal insufficiency. Identification and management of critical illness-related corticosteroid insufficiency is crucial. Patients with Cushing syndrome may have poorer outcomes because of the associated immunodeficiency and coagulopathy. Vitamin D deficiency appears to be associated with increased susceptibility or severity to SARS-CoV-2 infection, and replacement may improve outcomes. Robust strategies required for the optimal management of endocrinopathies in COVID-19 are discussed extensively in this mini-review.
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BACKGROUND: Chest pain is one of the common presenting symptoms encountered in an emergency department. Prompt history taking and careful clinical examination do help to differentiate cardiac chest pain from other causes. Mondor's disease is a rare cause of chest pain which is often underdiagnosed due to lack of awareness. Mondor's disease is a condition characterized by thrombophlebitis of the superficial veins of breast and anterior chest wall. The diagnosis is often made clinically. CASE PRESENTATION: Here we report a case of a 37-year-old Sri Lankan Tamil woman who presented with chest pain and was clinically diagnosed as having Mondor's disease after a physical examination, which was confirmed with demonstration of thrombophlebitis by ultrasound scan imaging. Although it is a self-limiting condition, non-steroidal anti-inflammatory drugs are used in the treatment to hasten recovery in addition to giving reassurance. CONCLUSIONS: Mondor's disease is not considered a differential diagnosis for chest pain due to lack of awareness of this medical condition. Creating awareness of this condition via this case would help to cut down unnecessary investigations and valuable time spent in emergency departments, and it helps to identify a serious underlying cause especially carcinoma of the breast at its early stage.