• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.17 no.2
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• pp.74-79
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• 2014

Food protein-induced enterocolitis syndrome (FPIES) is an under-recognized non-IgE-mediated gastrointestinal food allergy. The diagnosis of FPIES is based on clinical history, sequential symptoms and the timing, after excluding other possible causes. It is definitively diagnosed by an oral food challenge test. Unfortunately, the diagnosis of FPIES is frequently delayed because of non-specific symptoms and insufficient definitive diagnostic biomarkers. FPIES is not well recognized by clinicians; the affected infants are often mismanaged as having viral gastroenteritis, food poisoning, sepsis, or a surgical disease. Familiarity with the clinical features of FPIES and awareness of the indexes of suspicion for FPIES are important to diagnose FPIES. Understanding the recently defined clinical terms and types of FPIES is mandatory to suspect and correctly diagnose FPIES. The aim of this review is to provide a case-driven presentation as a guide of how to recognize the clinical features of FPIES to improve diagnosis and management of patients with FPIES.

• Childhood Kidney Diseases
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• v.19 no.1
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• pp.43-47
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• 2015

Hemolytic anemia and thrombocytopenia are rare clinical manifestations of acute glomerulonephritis. Initially, in all such cases, a diagnosis of hemolytic uremic syndrome, thrombotic thrombocytopenic purpura, systemic lupus erythematosus, and amyloidosis should be ruled out. The presence of hemolytic anemia and thrombocytopenia is rare, but possible, in a case of acute poststreptococcal glomerulonephritis, and may result in delayed diagnosis or misdiagnosis. Correct and timely diagnosis would ensure adequate treatment in such patients. We report of a 22-month-old boy with acute glomerulonephritis coexistent with hemolytic anemia and idiopathic thrombocytopenia.

• Journal of Interdisciplinary Genomics
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• v.2 no.1
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• pp.10-12
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• 2020

Coffin-Lowry syndrome (CLS) is a genetic disorder characterized by intellectual disability, typical facial features, and skeletal abnormalities. But this syndrome shows highly variable clinical manifestations, and can't be diagnosed with conventional chromosome analysis or comparative genomic hybridization, leading to delayed diagnosis. Here we report an 18-year-old boy with CLS diagnosed by whole exome sequencing. Our patient initially presented with developmental delay, facial dysmorphism at the age of 1. At the age of 18, he developed orthopnea due to mitral regurgitation. At the 22 years of age, he was diagnosed as CLS diagnosed by whole exome sequencing. Our case implies that clinical suspicion is important for early diagnosis, and advanced diagnostic tools such as WES should be considered in suspected cases.

• The Journal of the Korean dental association
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• v.25 no.8 s.219
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• pp.783-788
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• 1987

The authors observed the two cases of Rieger's syndrome in 21-year-old male and 13-year-old female with a chief complaint of Partial anodontia of permanent teeth on both jaws. We had done the laboratory and ophthalmic examinations and had taken radiographs. Final diagnosis was established as Rieger's syndrome. We obtained the results as follows, 1. There was no peculiar hereditary tendency in them. 2. The patients had no disturbance of general physical activity and mentality. 3. The male patient had pseudoprogenathism, concave profile, congenital missing on upper anterior and second premolar teeth, and conical shaped crown of upper len celral incisor. The female patient had also pseudoprognathism, concave profile, thickened upper labial frenum, decreased upper dental arch width, congenital missing on upper anterior teeth, and delayed eruption of second premolars. 4. The ophthalmic symptoms that were ins abnormalities, decreased visual acuity, and increased intraocular pressure were present. 5. The abnormalities except dental and ophthalmic abnormalities were not round.

• Journal of Chest Surgery
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• v.23 no.3
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• pp.588-593
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• 1990

The rupture of tracheobronchial tree caused by non penetrating blunt trauma is being increased in incidence though it is still rarely occurred on now Because this type of injury is uncommon, a high index of suspicion should be maintained in all crush injuries involving the chest. Early diagnosis and primary repair not only restore normal lung function but also avoid the difficulties and complications associated with delayed diagnosis and repair. We experienced a case of tracheobronchial rupture caused by non penetrating blunt chest trauma without rib fracture. The patient was a 16 year old male who was a high school student. He was compressed on anterior chest by hand ball goal post being failed down on the morning of admission day. After this accident, he was suffered from progressively developing dyspnea and subcutaneous emphysema on face, neck and anterior chest. The diagnosis, tracheal rupture, was made by chest CT and bronchoscopy. After right thoracotomy, the ruptured site was directly closed by using interrupted suture. Post-operative course was uneventful. Thus we report this case of traumatic tracheal rupture with review of literature.

• Journal of Chest Surgery
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• v.52 no.3
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• pp.174-177
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• 2019

Pancreaticopleural fistula (PPF) is a rare complication in patients with pancreatitis. Its symptoms are similar to those of empyema or pleural effusion; therefore, it is important to consider PPF in the differential diagnosis. Herein, we describe the diagnosis and treatment of PPF in a patient presenting with unusual empyema and delayed hemoptysis.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.18 no.3
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• pp.202-208
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• 2015

Progressive familial intrahepatic cholestasis type 3 (PFIC3) is an autosomal recessive disorder of cholestasis of hepatocellular origin, typically seen in infancy or childhood caused by a defect in the ABCB4 located on chromosome 7. Here we report on an older patient, aged 15, who presented with biochemical testing that led to an initial consideration of a diagnosis of Wilson disease (WD) resulting in a delayed diagnosis of PFIC3. Diagnosis of PFIC3 was later confirmed by molecular studies that identified novel mutations in the ABCB4 gene. Cholestasis due to PFIC3 can cause elevated hepatic copper and increased urine copper excretion that overlap with current diagnostic criteria for WD. Molecular diagnostics are very useful for establishing the diagnosis of PFIC3. Ursodeoxycholic acid ameliorates cholestasis in PFIC3, and may help mediate a reduction in hepatic copper content in response to treatment.

• Imaging Science in Dentistry
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• v.36 no.3
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• pp.163-168
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• 2006

A 60-year-old female, who complained of delayed healing and swelling after extraction of left lower second molar during chemotherapy, visited our department. She had a history of a resection surgery of breast cancer and postoperative radiotherapy. The conventional radiographs showed diffuse permeative bone destruction in posterior mandibular body, which gave the first radiologic impression of osteonecrosis associated with radiotherapy or chemotherapy. And bone metastasis from the breast cancer was also considered in the differential diagnosis. On the enhanced computed tomography (ECT) the posterior mandibular body was occupied by a large expansile lesion showing central low attenuation with peripheral rim enhancement. Magnetic resonance images revealed that the low attenuated area on ECT did not show as high signal intensity as water on T2 weighted image and indicated solid component of a tumor. The final diagnosis was central squamous cell carcinoma. We present the diagnostic imaging features of the patient with special emphasis on the differential diagnosis.

• Korean Journal of Radiology
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• v.20 no.6
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• pp.863-879
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• 2019

Hepatocellular carcinoma (HCC) can be noninvasively diagnosed on the basis of its characteristic imaging findings of arterial phase enhancement and portal/delayed "washout" on computed tomography (CT) and magnetic resonance imaging (MRI) in cirrhotic patients. However, different specific diagnostic criteria have been proposed by several countries and major academic societies. In 2018, major guideline updates were proposed by the Association for the Study of Liver Diseases, European Association for the Study of the Liver (EASL), Korean Liver Cancer Association and National Cancer Center (KLCA-NCC) of Korea. In addition to dynamic CT and MRI using extracellular contrast media, these new guidelines now include magnetic resonance imaging (MRI) using hepatobiliary contrast media as the first-line diagnostic test, while the KLCA-NCC and EASL guidelines also include contrast-enhanced ultrasound (CEUS) as the second-line diagnostic test. Therefore, hepatobiliary MR contrast media and CEUS will be increasingly used for the noninvasive diagnosis and staging of HCC. In this review, we discuss the emerging role of hepatobiliary phase MRI and CEUS for the diagnosis of HCC and also review the changes in the HCC diagnostic criteria in major guidelines, including the KLCA-NCC practice guidelines version 2018. In addition, we aimed to pay particular attention to some remaining issues in the noninvasive diagnosis of HCC.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.1
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• pp.377-380
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• 2015

Background: There is strong evidence that delayed diagnosis of breast cancer is associated with poor survival. Our objectives were to determine the frequency of breast cancer patients with delayed presentation, the reasons of delay and its association with different socio-demographic variables in our North Pakistan setting. Materials and Methods: We interviewed 315 histologically confirmed breast cancer patients. Delay was defined as more than 3 months from appearance of symptoms to consultation with a doctor. Questions were asked from each patient which could reflect their understanding about the disease and which could be the likely reasons for their delayed presentation. Results: 39.0 % (n=123) of patients presented late and out of those, 40.7% wasted time using alternative medicines; 25.2 % did not having enough resources; 17.1 % presented late due to painless lump; 10.6% felt shyness and 6.5% presented late due to other reasons. Higher age, negative family history, < 8 school years of education and low to middle socio-economic status were significantly associated with delayed presentation (p< 0.05). Education and socioeconomic status were two independent variables related to the delayed presentation after adjustment for others (OR of 2.26, 2.29 and 95%CI was 1.25-4.10, 1.06-4.94 respectively). Conclusions: Significant numbers of women with breast cancer in North Pakistan experience presentation delay due to their misconceptions about the disease. Coordinated efforts with public health departments are needed to educate the focused groups and removing the barriers identified in the study. Long term impact will be reduced overall burden of the disease in the region.