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Introduction: Androgen Insensitivity Syndrome (AIS) is a rare X-linked recessive disorder of sexual development. It results from mutations in the Androgen Receptor (AR) gene located on chromosome Xq11-12. Affected individuals have a male genotype but a female phenotype. Case presentation: A 20-year-old female presented to the emergency room with a history of pain in the bilateral inguinal region. In ultrasonography (USG), bilateral inguinal hernia was suspected. While performing an emergency operation for hernia repair, hernia was revealed as bilateral abdominal testis. Then, after a gynecology consultation, a bilateral orchidectomy was done. Postoperative karyotyping showed a male genotype. Then the patient was discharged on hormone replacement therapy to maintain normal bone mineral density and secondary sexual characteristics. Discussion: AIS presents with primary amenorrhea in pubertal females. The growth spurt and secondary sexual characteristics are normal except for absent axillary and pubic hair. There is a short-blind vagina, but the uterus is absent, and the abdominal testis presents as an inguinal hernia. Serum gonadotropin level, karyotyping, and imaging studies are done to reach a diagnosis. Management includes gonadectomy, genitoplasty, and hormone replacement therapy. Conclusion: The objective of this report was to make clinicians aware that AIS can present as a bilateral inguinal hernia. In acute presentations, it can be misdiagnosed as a strangulated femoral hernia only later to be identified as an undescended abdominal testis during surgery. An absence of proper clinical judgment and reliance on USG for imaging can often lead to misdiagnosis in acute settings.
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Quality and safety in healthcare have emerged as key factors impacting on both clinical effectiveness and clinical outcomes. While improving the healthcare supply chain has been extensively researched, the impact of the healthcare supply chain on clinical safety has received little attention in the literature, largely due to the complexity of such studies and the involvement of multiple stakeholders. This research proposes an evaluation model using key performance measurements for an electronic procurement system that enables digital transformation of the healthcare supply chain. The model will be tested before and after the introduction of an electronic procurement system in the healthcare supply chain for small and medium sized healthcare providers to provide evidence of both the usefulness of the model itself within industry and to further contribute to the knowledge base. Future use of the model may provide benchmarking and important data and insights to enable enhanced clinical safety in the healthcare supply chain.
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Benchmarking , Eletrônica , Humanos , Instalações de Saúde , Pessoal de Saúde , Atenção à SaúdeRESUMO
Tuberous sclerosis complex is a rare autosomal dominant genetic disorder that affects multiple organ systems, primarily affecting the central nervous system. It develops with a pathogenic mutation in tumour suppressor genes i.e. Tuberous Sclerosis Complex 1 or Tuberous Sclerosis Complex 2 which codes for protein hamartin and tuberin leading to unopposed hyperactivation of the mammalian target of the rapamycin signalling pathway. It presents with a triad of facial angiofibroma, intellectual disability, and epilepsy. We present a case of a 17-month female toddler with abnormal body movement with loss of consciousness and later developing into generalised jerky movements. On magnetic resonance imaging, a diagnosis of tuberous sclerosis was made. The patient underwent symptomatic management with anti-epileptic. As seizures in these cases are subtle, they remain undiagnosed for a long time leading to delays in management and developing refractory seizures. Keywords: angiofibroma; case reports; seizures; tuberous sclerosis; tumor suppressor gene.
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Angiofibroma , Esclerose Tuberosa , Feminino , Humanos , Lactente , Esclerose Tuberosa/complicações , Esclerose Tuberosa/diagnóstico , Esclerose Tuberosa/genética , Proteínas Supressoras de Tumor/genética , Angiofibroma/diagnóstico , Angiofibroma/etiologia , Angiofibroma/metabolismo , Sirolimo , Convulsões/etiologiaRESUMO
BACKGROUND: Most of the scoring systems to predict difficult laparoscopic cholecystectomy are based on pre-operative clinical and radiological findings. Recently the Parkland Grading Scale system was introduced as a simple intra-operative grading scale. This study aims to utilize the Parkland Grading Scale system to assess the intraoperative challenges during laparoscopic cholecystectomy. METHOD: This was a prospective, cross-sectional study done at Chitwan Medical College and Teaching Hospital, Chitwan, Nepal. All the patients underwent laparoscopic cholecystectomy from April 2020 to March 2021. Based on the initial intra-operative finding, Parkland Grading Scale was noted and at the end of the surgery, the level of difficulty was given by the operating surgeon. All the pre-operative, intra-operative, and post-operative findings were compared with the scale. RESULTS: Out of 206 patients, there were 176 (85.4%) females, and 30 (14.6%) males. The median age was 41 years (Range 19-75). The median body mass index was 23.67 kg/m2. There were 35(17%) patients with a history of previous surgery. The rate of conversion to open surgery was 5.8%. According to Parkland Grading Scale, 67(32.5%), 75(36.4%), 42(20.4%), 15(7.3%), and 7(3.4%) were graded as grade 1, 2, 3, 4, and 5 respectively. There was a difference in the Parkland grading scale in patients with a history of acute cholecystitis, gallbladder wall thickness, pericholecystic collection, stone size, and body mass index (p < 0.05). The total operative time, level of difficulty in surgery, rate of help needed from colleagues or replacement as the main surgeon, bile spillage, drain placement, gallbladder decompression, and conversion rate all increased with an increase in scale (p < 0.05). There was a significant increase in the development of post-operative fever, and post-operative hospital stay as the scale increased (p < 0.05). The Tukey-Kramer test for all pair-wise comparisons revealed that each grade was significantly different from each other (p < 0.05) on the difficulty of surgery except for grade 4 from 5. CONCLUSION: Parkland Grading Scale system is a reliable intra-operative grading system to assess the difficulty in laparoscopic cholecystectomy and helps the surgeon to change the strategy of surgery. An increase in scale is associated with an increased difficulty level of the surgery.
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Moyamoya is an uncommon, chronic vasocclusive disease of brain which affects the terminal portion of the internal carotid artery. Moyamoya disease is a disease of young with peak incidence of around 10-40 years. It can present as a transient ischemic attack (TIA), stroke or intracerebral hemorrhage in the pediatric or young adults. Treatment usually includes medical therapy or surgery. Surgical treatment generally involves use of external carotid system for blood supply which are spared in this disease process. We present a case of a young male patient with stroke from Moyamoya disease, who underwent successful EDAS (encephaloduroateriosynangiosis) procedure with complete resolution of his stroke symptoms.
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Doença de Moyamoya , Acidente Vascular Cerebral , Humanos , Doença de Moyamoya/complicações , Doença de Moyamoya/diagnóstico , Masculino , Acidente Vascular Cerebral/etiologia , Revascularização Cerebral/métodosAssuntos
Dor nas Costas , Dor no Peito , Humanos , Feminino , Dor no Peito/etiologia , Dor no Peito/diagnóstico , Dor nas Costas/etiologia , AdultoRESUMO
Diabetes mellitus remains one of the most common and disabling diseases in the world. Patients with diabetes tend to have more cardiovascular complications, regardless of their prior cardiac history. Tight glycemic control has been shown to prevent microvascular complications as it relates to nephropathy and retinopathy; however, it hasn't been proven beneficial in patients with macrovascular diseases, i.e., cardiovascular disease. In fact, two groups of diabetic medications, dual peroxisome-proliferator-activated receptor - agonists and sulfonylurea, are known to worsen cardiovascular disease. Patients using this group of medications have shown increased heart failure readmission rates and increased risk for cardiovascular death. Insulin and Metformin have been the gold standard treatment for diabetes management to prevent worsening cardiac outcomes, and now a newer class of medications have demonstrated similar results. These drug classes includes sodium glucose cotransporter 2(SGLT 2) inhibitors, dipeptidyl peptidase-4 (DPP-4) inhibitors, and glucagon like peptide-1 (GLP 1) analogues.
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Doenças Cardiovasculares , Diabetes Mellitus Tipo 2 , Inibidores da Dipeptidil Peptidase IV , Inibidores do Transportador 2 de Sódio-Glicose , Doenças Cardiovasculares/tratamento farmacológico , Doenças Cardiovasculares/prevenção & controle , Diabetes Mellitus Tipo 2/tratamento farmacológico , Inibidores da Dipeptidil Peptidase IV/uso terapêutico , Peptídeo 1 Semelhante ao Glucagon , Humanos , Hipoglicemiantes/uso terapêutico , Inibidores do Transportador 2 de Sódio-Glicose/uso terapêuticoRESUMO
BACKGROUND: The liver is the second most injured organ following blunt abdominal trauma (BAT) after the spleen. Although the computed tomography (CT) scan is considered as the gold standard for diagnosing liver injury in BAT, it may not readily available in all the hospitals. This study was performed to evaluate the role of aspartate transaminase (AST) and alanine transaminase (ALT) in patients with BAT and its significance in predicting the diagnosis and severity of the liver injury. METHOD: The study was conducted in Chitwan Medical College Teaching Hospital (CMCTH) from February 2019 to May 2020. It was a prospective observational study. All the patients with BAT were received by on-duty surgical residents in the emergency department. Based on the imaging and operative finding, patients with liver injury and without liver injury were noted with the associated injury. For comparisons of clinical and grading characteristics between the two groups (liver injury and no liver injury), the chi-squared test was used for categorical variables as appropriate, and the Mann-Whitney U test used for quantitative variables (AST and ALT). The comparisons between more than two groups (grade of injury) were performed using the Kruskal-Wallis test. The receiver operating characteristic (ROC) was used to calculate the optimal cut-off value of AST and ALT. RESULTS: Among the 96 patients admitted with BAT, 38 patients had liver injury and 58 patients had no liver injury. The median length of the intensive care unit (ICU) stay of patients with liver injury was higher than without liver injury. There was a significant difference in the median level of AST and ALT (< 0.001) between patients with liver injury and no liver injury. The area under the ROC curve of AST was 0.89 (95% confidence interval 0.86-0.98) and of ALT was 0.92 (95% confidence interval 0.83-0.97). The area under the curve demonstrated that the test was a good predictor for the identification of liver injury and also the severity of liver enzymes. The cut-off values for the liver injury were 106 U/l and 80 U/l for AST and ALT, respectively. Based on these values, AST ≥ 106 U/l had a sensitivity of 71.7%, a specificity of 90%, a positive predictive value of 86.8%, and a negative predictive value of 77.6%. The corresponding values for ALT ≥ 80 U/l were 77.8%, 94.1%, 92.1%, and 82.8%, respectively. CONCLUSION: In conclusion, we report the optimal cut-off value of AST and ALT for liver injury in BAT as ≥ 106 U/l and 80 U/l, respectively. The elevated level of AST and ALT might assist the emergency physicians and surgeons to timely refer the suspected patients with the liver injury to a tertiary center.
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Steroid receptor coactivator-3 (SRC-3) regulates the activity of both nuclear hormone receptors and a number of key transcription factors. It is implicated in the regulation of cell proliferation, inflammation and in the progression of several common cancers including breast, colorectal and lung tumors. Phosphorylation is an important regulatory event controlling the activities of SRC-3. Serine 857 is the most studied phospho-acceptor site, and its modification has been reported to be important for SRC-3-dependent tumor progression. In this study, we show that the stress-responsive p38MAPK-MK2 signaling pathway controls the phosphorylation of SRC-3 at S857 in a wide range of human cancer cells. Activation of the p38MAPK-MK2 pathway results in the nuclear translocation of SRC-3, where it contributes to the transactivation of NF-kB and thus regulation of IL-6 transcription. The identification of the p38MAPK-MK2 signaling axis as a key regulator of SRC-3 phosphorylation and activity opens up new possibilities for the development and testing of novel therapeutic strategies to control both proliferative and metastatic tumor growth.
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Proteína Quinase 6 Ativada por Mitógeno/metabolismo , Neoplasias/patologia , Coativador 3 de Receptor Nuclear/metabolismo , Animais , Linhagem Celular Tumoral , Núcleo Celular/metabolismo , Regulação Neoplásica da Expressão Gênica , Técnicas de Inativação de Genes , Humanos , Interleucina-6/metabolismo , Peptídeos e Proteínas de Sinalização Intracelular/antagonistas & inibidores , Peptídeos e Proteínas de Sinalização Intracelular/metabolismo , Sistema de Sinalização das MAP Quinases/genética , Sistema de Sinalização das MAP Quinases/imunologia , Camundongos , NF-kappa B/metabolismo , Neoplasias/genética , Neoplasias/imunologia , Coativador 3 de Receptor Nuclear/genética , Fosforilação/efeitos dos fármacos , Fosforilação/genética , Proteínas Serina-Treonina Quinases/antagonistas & inibidores , Proteínas Serina-Treonina Quinases/metabolismo , Serina/metabolismo , Ativação Transcricional , Fator de Necrose Tumoral alfa/metabolismo , Proteínas Quinases p38 Ativadas por Mitógeno/metabolismoRESUMO
INTRODUCTION: Congenital malformations have emerged as a major cause of stillbirths and neonatal mortality. It is a common cause of morbidity and mortality not only in the newborn but also in childhood and beyond. The objective of this study was to find the prevalence of congenital malformation at birth. METHODS: The descriptive cross-sectional study was conducted among 2456 live births in Kathmandu Medical College and Teaching Hospital from April 2017 to March 2018 after obtaining ethical approval from the institutional review committee (Ref no. 08052017). A convenient sampling method was applied. All the live-born babies delivered in this hospital during the study period were clinically examined for the presence of congenital anomalies. All malformations were classified according to the International Classification of Diseases-10 classification. The mothers of the newborns with congenital malformations were interviewed in a predesigned proforma. Statistical analysis was done using statistical package for the social sciences version 20. RESULTS: Out of 2456 examined live births, congenital malformations were observed in 66 cases. The prevalence of congenital malformation was 66 (2.6%) at 95% confidence interval (4.19-1.98) of total live births. The genitourinary system was the most common system involved with congenital malformations being 16 (24.2%), followed by musculoskeletal system 14 (21.2%), and cardiovascular system 12 (18.2%). CONCLUSIONS: Congenital malformation plays a major role in the mortality and morbidity of neonates as well as children. The genitourinary system was the most common system involved.
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Anormalidades Congênitas/epidemiologia , Mortalidade Infantil , Natimorto , Estudos Transversais , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Nepal/epidemiologia , Gravidez , Prevalência , Natimorto/epidemiologia , Centros de Atenção TerciáriaRESUMO
Gastrointestinal (GI) histoplasmosis is a rare disease with variable manifestations. We report a case of a male patient who developed disseminated histoplasmosis with prominent manifestations of GI bleeding, and esophagogastroduodenoscopy and colonoscopy revealed atypical ulcers. With the treatment of itraconazole, patient's GI bleeding stopped, and follow up endoscopies revealed resolution of the ulcers.
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Hemorragia Gastrointestinal , Histoplasmose , Colonoscopia , Hemorragia Gastrointestinal/diagnóstico , Hemorragia Gastrointestinal/etiologia , Histoplasmose/complicações , Humanos , Itraconazol/uso terapêutico , MasculinoRESUMO
Antiplatelet agents are the mainstay of treatment for patients with acute coronary syndrome (ACS) or stable ischemic heart disease (SIHD). The most commonly used antiplatelet agents are aspirin and clopidogrel. Newer agents such as ticagrelor are becoming more commonplace as new studies have shown more cardiovascular benefits with these group of medications. The duration of use of these agents in setting of stable disease versus ACS is variable. We have tried to delineate the usage and duration of these agents in patients with the history of ACS or SIHD in numerous medical conditions. We have delved into available guidelines from American College of Cardiology/American Heart Association, Society of Thoracic Surgeons, and American College of Gastroenterology for our review article.
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Síndrome Coronariana Aguda , Doença da Artéria Coronariana , Isquemia Miocárdica , Inibidores da Agregação Plaquetária/uso terapêutico , Aspirina/uso terapêutico , Doença da Artéria Coronariana/tratamento farmacológico , HumanosRESUMO
Pulmonary hypertension (PH) is defined as mean pulmonary artery pressure (mPAP) 25 mmHg or greater at rest; this measurement is obtained during right heart catheterization. The exact prevalence of PH in the U.S. is unknown. Advances in hemodynamic studies of the right heart side and pulmonary circulations has helped improve our understanding of this condition. This better understanding aids the development of treatment agents aimed at improving quality of life, morbidity and mortality. Awareness of this condition and understanding the classification of PH and the available treatment modalities is crucial hence we aim to briefly review the classification, diagnosis and treatment of PH in this article.
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Hipertensão Pulmonar , Qualidade de Vida , Cateterismo Cardíaco , Hemodinâmica , Humanos , Hipertensão Pulmonar/diagnóstico , Hipertensão Pulmonar/epidemiologia , Hipertensão Pulmonar/terapia , PrevalênciaRESUMO
The prevalence of chronic total occlusion (CTO) lesions in coronary arteries is notably high in patients with significant coronary artery disease. However, only a relatively small fraction of observed CTOs classically go for revascularization. Recent advances in techniques and equipment has greatly improved the success rates of CTO revascularization while reducing complications. There has also been an increasing body of evidence regarding clinical benefit of CTO revascularization. However, until recently majority of the evidence was observational and based on data from large multicenter registries. Recent randomized studies have reported on clinical benefits of CTO revascularization particularly with relief of angina. However, there is heterogeneity of results among different studies and the magnitude of benefit is not consistently seen in all studies. This article reviews the existing literature on the current evidence regarding clinical benefits and other rationale for CTO revascularization.
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Oclusão Coronária/cirurgia , Vasos Coronários/cirurgia , Intervenção Coronária Percutânea/métodos , Doença Crônica , Angiografia Coronária , Oclusão Coronária/diagnóstico , Vasos Coronários/diagnóstico por imagem , HumanosRESUMO
Statins are a group of essential medications used in ischemic heart disease, stroke, and peripheral vascular disease. In patients with these medical conditions, they have been proven to decrease mortality and morbidity. However, statins can cause transient elevation of liver enzymes in some patients, which has led to the unnecessary cessation of these agents prematurely. Physicians also face a dilemma when determining if they should utilize statins in patients whose liver enzymes are elevated at baseline. This dilemma may prevent physicians from prescribing statins when clinically indicated, and safe. The purpose of this article is to review existing literature that provides guidance on the utilization of statins in clinical scenarios where liver enzymes are elevated at baseline or when liver enzymes increase after the initiation of statin-based therapy.