• Journal of Interdisciplinary Genomics
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• 제2권1호
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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.

• 대한치과의사협회지
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• 제25권8호통권219호
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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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• 제23권3호
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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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• 제52권3호
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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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• 제18권3호
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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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• 제36권3호
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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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• 제20권6호
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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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• 제16권1호
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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.

• Journal of Yeungnam Medical Science
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• 제24권1호
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• pp.79-84
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• 2007

Sphenoid sinus aspergillosis is notorious for its serious complications, such as permanent cranial nerve deficits and possible death. The most common associated symptoms are headache, followed by visual changes, and cranial nerve palsies. Because of an insidious onset, frequently resulting in missed and delayed diagnosis, sphenoid sinus aspergillosis is a potentially lethal medical condition. We report a case of visual loss secondary to isolated sphenoid sinus aspergillosis. A 69-year-old man presented to our hospital with the complaint of headache. The headache started one year previously and was described as severe dull pain localized bilaterally to the temporo-orbital region. The patient took daily NSAIDs for the pain. The neurological examination was normal. The MRI of the brain showed a left sphenoid sinusitis. A transnasal endoscopic superior meatal sphenoidotomy was performed. Aspergillosis was confirmed after a surgical biopsy was obtained. The patient was discharged from hospital without antifungal therapy. One month later, the patient complained of headache and loss of vision bilaterally. The orbital MRI showed a left cavernous sinus and bilateral optic nerve invasion. The loss of visions was permanent. In our case, the diagnosis was delayed; antifungal agents were not administered after surgery and the patient lost his vision as a result. Therefore, early diagnosis and proper treatment are important. Although the treatment of an invasive type of aspergillus has not been established, surgical removal of a nidus and aggressive antifungal therapy are recommended.

• Archives of Plastic Surgery
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• 제34권3호
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• pp.383-387
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• 2007

Purpose: A necrotizing fasciitis is a rare, but insidiously advancing fatal soft tissue infection characterized by extensive fascial necrosis. Diagnosis & treatment of this disease are difficult. Necrotizing fasciitis tend to begin with constitutional symptoms of fever and chills. Quite a many lab studies and imaging studies such as standard radiography, computerized tomography can be used, but nothing can confine the extent of affected tissue. Aggressive surgical interventions are often required because of large skin and soft tissue deformity. However, many patients with necrotizing fasciitis are not healthy enough to overcome aggressive surgical intervention. Methods: Since 2000, we treated 10 patients with necrotizing fasciitis. In 4 patients, we used magnetic resonance imaging(MRI) as a tool for diagnosis as soon as necrotizing fascitiis was doubted. We treated patients with delayed coverage with Alloderm$^{(R)}$ & split thickness skin graft or delayed wound closure in as many cases as possible. Results: In 4 patients using preoperative MRI, diagnosis could be made in earlier stage of the disease compared to other patients. Our treatment modality was debridement and coverage with Alloderm$^{(R)}$ & split thickness skin graft. We could reconstruct deformities without significant limitation of movement in 7 cases. Conclusion: We diagnosed and treated 10 necrotizing fasciitis with MRI and Alloderm$^{(R)}$ graft, and results were good.