Tzu Chi Medical Journal - Articles in Press

Dup(3) (p23p25) syndrome and array-based comparative genomic hybridization - Corrected Proof

2012-01-24

A high resolution peripheral blood G-banded chromosome study was arranged for a 3-month-old female infant due to the presence of multiple congenital anomalies (MCA), including: flat face, flat occiput, flat nasal bridge, retrognathia, fish mouth, low set and dysplastic ears, temporal narrowing, short neck and prominent nuchal fold, and clinodactyly and hypoplastic toe nails (). Soon after birth, the infant was found to have mild whole body edema with hypoalbuminemia of an unknown cause and congenital heart disease, which included patent ductus arteriosus (PDA) and tricuspid regurgitation. No evidence of congestive heart failure or PDA persisted after two doses of oral indomethacin. Preterm labor had not occurred and the infant’s birth weight was 3.2kg. During follow-up at an outpatient clinic, weak crying, extended daytime sleeping, and delayed developmental milestones were noted by the early infant developmental screening program.

Feasibility of genetic testing for tuberous sclerosis in a 13-year-old boy - Corrected Proof

2012-01-24

A 13-year-old boy was brought to a genetic counseling clinic for a tuberous sclerosis complex (TSC) gene test by his mother who was affected by TSC. The boy’s mother had facial angiofibromas, multiple periungual fibromas, shagreen patches over her lower back, and hypomelanotic macules (ash leaf) over the left side of her waist (). The boy’s family history revealed that his 17-year-old brother was also affected by TSC with facial angiofibromas, a left index finger periungual fibroma, shagreen patches over the right lower abdomen, and de-pigmented lesions over the left lower back. Both the mother and the elder brother had their tuberous sclerosis 1 (TSC1) gene sequenced directly from peripheral blood leukocyte DNA. Sequencing revealed a T to C point mutation over the TSC1 gene at exon 6, codon 482, causing an amino acid change from leucine to proline (TSC1 c.482 T>C CTG>CCG Leu>Pro) (). High resolution melting (HRM) curve analysis of the TSC1 gene also revealed a nucleotide T to C mutation in codon 482 () from the mother and elder brother’s peripheral blood leukocyte DNA. This mutated single nucleotide substitution has not been previously reported.

Heart rate reduction and autonomic response in young adults following different vagal maneuvers - Corrected Proof

Yuan-Chia Cheng, Huai-Min Chen, Wei-Che Lee, Chao-Wen Chen, Hsing-Lin Lin — 2012-01-16

Abstract: Objective: Vagal maneuvers can cause a bradycardiac response with a reciprocal increase in parasympathetic outflow and reduction of sympathetic tone. Heart rate variability (HRV) analysis is useful in the evaluation of the autonomic nervous system. The present study investigated the magnitude of heart rate (HR) reduction and autonomic response in healthy young adults following three vagal maneuvers: carotid sinus massage (CSM), the cold face test (CFT), and the Valsalva maneuver (VM).Materials and Methods: A prospective study was conducted in 50 healthy volunteers between 21 and 35 years old who completed CSM, the CFT, and the VM in random order. Before and after each test, the RR intervals were recorded by electrocardiography for 5min to analyze variability in the time and frequency domains, and to monitor changes in the HR, blood pressure (BP), and body temperature (BT).Results: After each test, HR, BP, and BT significantly decreased compared with values at rest (all p values < 0.05). The mean HR during CSM, the CFT, and the VM significantly decreased by 4.0%, 3.2%, and 2.3%, respectively, revealing that CSM most potently induced HR reduction. Significantly increased variance of the RR (VAR) indicated that CSM, the CFT, and the VM induced cardiac autonomic function (p=0.001, p=0.009, and p=0.009, respectively). Although not all of these changes were statistically significant, increased power of the normalized low-frequency component (LF%), decreased power of the normalized high-frequency component (HF%), and an increased LF/HF ratio suggested relative sympathetic enhancement. Only the VM had significant effects on sympathovagal balance in the LF%, HF%, and LF/HF (p=0.006, p=0.004, and p=0.006, respectively).Conclusion: Of the three maneuvers, CSM had the greatest effects on HR reduction, while only the VM had significant effects on sympathovagal modulation. Although accurate assessment of vagal activity was not available from spectral analysis of HRV, the increases in VAR, LF%, and LF/HF, and decrease in HF% observed in this study suggest that increases in cardiac autonomic activities and sympathetic dominance occur as compensatory responses to HR reduction in a 5-min window following vagal maneuvers. More research is required to determine whether CSM is a superior initial nonpharmacologic treatment for supraventricular tachyarrhythmia in a young population if there are no contraindications.

Extrapulmonary tuberculosis in the wrist presenting as a ganglion cyst-like mass: A case report - Corrected Proof

Kun-Chi Wu, Huan-Ming Tang, Kuang-Ting Yeh, Dah-Ching Ding — 2012-01-16

Abstract: There has been recent interest in tuberculosis of the hand because of its rising incidence. Musculoskeletal tuberculosis accounts for only 20% of cases of tuberculosis. The most common musculoskeletal sites are the spine, hip and knee. Hand involvement is seen in 10% of patients with musculoskeletal tuberculosis. This study reports an unusual case of extrapulmonary tuberculosis in the soft tissues of the wrist, presenting as a ganglion cyst-like lesion with concurrent lung cancer. The condition occurred in a 55-year-old woman with underlying rheumatoid arthritis that had been diagnosed 3 years previously and was under control with regular medication. For several months the patient had noted a metapharyngeal joint mass in her right wrist and hand. The unmovable soft mass was approximately 2cm×2cm in the metapharyngeal joint and 4.5cm×4.5cm in the wrist, and displayed local tenderness and limited range of motion. Under the impression of a ganglion cyst-like soft tissue mass, the patient underwent marginal excision. However, the pathological report indicated tuberculosis. Antituberculosis treatment was prescribed. Simultaneously, lung cancer was also diagnosed. The patient then received chemotherapy and regular follow-up. Although the case described here is rare, preoperative evaluation can help considerably in early detection of cancer. Additionally, postoperative pathology can help define tuberculosis. Medical treatment plays a major role in tuberculosis.

A huge retropharyngeal air pocket in a 7-month-old infant - Corrected Proof

Jiann-Jy Chen, Hin-Cheung Shum, Chi-Jen Chen, Dem-Lion Chen, Yao-Mao Tang — 2012-01-03

A 7-month-old girl presented with poor dietary intake, a productive cough, rhinorrhea, and fever for over 2 weeks. She was admitted to a local hospital where she was examined for sepsis and received intravenous antibiotics. Over the following 3 days, her condition was stable and the fever subsided; however, on her 4th day in hospital, she developed dyspnea and acute supraglottitis was suspected. Anteroposterior chest radiography (A) and lateral neck radiography (B) did not demonstrate the thumb sign of epiglottitis; instead, a huge, 6.9 × 3.1-cm, retropharyngeal air pocket that threatened the upper airway was discovered. Emergency endotracheal intubation and echo-guided needle aspiration and drainage were performed and a corticosteroid was intravenously administrated. Follow-up lateral neck radiography (C) and contrast-enhanced computed tomography (D) demonstrated that the air pocket had been relieved, but a huge, 4.0 × 4.0 × 2.5-cm, retropharyngeal, gas-forming abscess was discovered, which contained an air-fluid mixture. The patient was transferred to a medical center for further evaluation and management. Three days later, a pus culture of the retropharyngeal gas-forming abscess was diagnosed as Pseudomonas aeruginosa, which is sensitive to gentamicin, amikacin, ceftazidime, ciprofloxacin, levofloxacin, meropenem, piperacillin/tazobactam, cefpirome, and cefoperazone-sulbactam without any antibiotic resistance.

The formation and performance of medical humanities by interns in a clinical setting - Corrected Proof

2011-12-29

Abstract: Objectives: There were two aims of this study: first, we attempted to identify the medical humanities performed by interns in the clinical ward; second, we wanted to explore the ways that interns learn medical humanities.Materials and Methods: This research was carried out in a general internal medicine model unit of a medical center in southern Taiwan. Researchers conducted field work by participant observation in the ward for 9 months from December 2008 to May 2009, and from November 2009 to January 2010. Eight interns were enrolled in this study. Humanistic behaviors performed by the interns who were investigated during the course of their medical activities were recorded in field records. After participant observation, five interns were interviewed to collect information on their learning processes related to medical humanities. The field records and interview transcriptions were coded according to categories of medical professionalism defined in this study.Results: Four major characteristics of medical humanities were observed from the field work: primacy of patient welfare, patient autonomy, social justice, and sincerity. The most common humanistic practices performed by the interns included converting medical knowledge into lay language when communicating with the patient’s family, closing the bedside curtain for privacy and arranging social worker consultations to help patients. Three learning models were also identified that were associated with the performance of humanistic practices observed in the field. Interns may learn medical humanities through learning by doing, a teaching-learning model, informal peer learning, or a combination of these.Conclusion: This study confirmed that sincerity is a characteristic of medical professionalism and medical humanities. Participant observation can be used as an ideal tool for identifying humanistic medical practices in daily clinical settings, and an interview can become a supplemental method to validate what has been observed.

Nasopharyngeal papillary adenocarcinoma: A case report and clinicopathologic review - Corrected Proof

Yuan-Tung Chu, Chung-Tai Yue — 2011-12-21

Abstract: Nasopharyngeal papillary adenocarcinoma (NPAC) is an extremely rare malignant tumor derived from the nasopharyngeal surface epithelium, with only a limited number of cases reported in the literature. NPAC presents as a slow-growing exophytic mass, with an excellent prognosis and rare recurrence following appropriate surgical management. In contrast, ordinary nasopharyngeal carcinoma is typically accompanied by metastatic neck masses, and radiotherapy is the mainstay of treatment. The immunohistochemical profile supports the derivation of NPAC from the surface epithelium rather than from the subjacent minor salivary glands. This tumor most commonly involves the roof, lateral wall, and posterior wall of the nasopharynx. Nasal obstruction is the main presenting symptom. The diagnosis can be confirmed readily by endoscopic biopsy. This report describes NPAC in a 50-year-old man with symptoms of blood-tinged rhinorrhea and morning headache. The patient is currently well without tumor recurrence after surgical treatment.

Complete metastasectomy to treat simultaneous metastases of the duodenum and pancreas caused by renal cell carcinoma - Corrected Proof

Yen-Cheng Chen, Ying-Chin Yang, Ming-Hsun Li, Hann-Chorng Kuo, Ming-Che Lee — 2011-12-02

Abstract: Renal cell carcinoma (RCC) metastatic to the pancreas is relatively uncommon, and RCC metastatic to the duodenum is extremely rare, with only a small number of case reports in the literature. We describe a 76-year-old woman with a history of RCC who had been treated by radical left nephrectomy 6 years earlier. The patient presented with anemia, hematochezia, and a bulging mass in the pancreaticoduodenal area, and was treated by pancreaticoduodenectomy. Histopathology confirmed metastatic RCC of the duodenum, the pancreas, and one of the dissected regional lymph nodes. The patient remains healthy to date without recurrence more than 24 months after pancreaticoduodenectomy. Our case report and review of the literature supports the curative surgical treatment in this rare group of patients.

Granular cell tumor of the left maxillary paranasal sinus in a 24-year-old man - Corrected Proof

Chia-Fen Yang, Szu-Ying Chin — 2011-11-28

Abstract: Granular cell tumors (GCTs) are uncommon benign lesions which usually occur in the head and neck region. However, paranasal sinus presentation is extremely rare. We report a case of a 24-year-old man with clinical symptoms of chronic sinusitis, which is believed to be the first reported case arising from the paranasal sinuses in the English literature. His symptoms included bilateral nasal obstruction, discharge, postnasal drip, and hyposmia. He received a multiple sinusectomy and there was no evidence of recurrence in the 6-month follow-up. We also summarize the clinical information, clinical presentation, microscopic picture, treatment, and patient status after treatment of three previously reported cases involving naso-paranasal areas along with our case. The diagnostic criteria for malignant transformation and the role of bone invasion are also reviewed.

Severe hyponatremia and syndrome of inappropriate secretion of antidiuretic hormone (SIADH) induced by duloxetine - Corrected Proof

Shu-Ju Yang, Po-Lun Wu — 2011-11-07

Abstract: Hyponatremia is a significant complication of treatment with selective serotonin reuptake inhibitors. There are a limited number of case reports of hyponatremia following treatment with duloxetine. We describe a case of a 57-year-old woman who had begun taking duloxetine for depression. Three weeks later, she reported fatigue, weakness, lethargy and drowsiness. During an emergency room evaluation, laboratory examination revealed hyponatremia and serum hypo-osmolarity. She had duloxetine-induced syndrome of inappropriate secretion of antidiuretic hormone (SIADH) and duloxetine was discontinued. Hyponatremia correction was started and, in one week, the mental status of the patient gradually improved, paralleling the resolution of her hyponatremia. She was started on trazodone 25mg/day for depression without recurrence of hyponatremia.

Nocardiosis of the lung - Corrected Proof

Yung-Hsiang Hsu — 2011-09-07

A 43-year-old man with acute myelogenous leukemia (M4) received peripheral blood stem cell transplantation in April 2010.He had fever and chills for one week. Posteroanterior radiography of the chest showed a 2.0 cm patch nodule in the right upper lobe. A computed tomography-guided biopsy was performed. Histopathology showed numerous neutrophils admixed with necrotic debris in the alveolar spaces (A). A Gomori methenamine silver stain demonstrated numerous blackish filamentous bacteria diagnostic of nocardiosis (B). The nocardia belong to aerobic actinomyces, and contain 9 species. In humans, nocardia asteroides accounts for 86% of infections caused by this organism. They are important parts of normal soil microflora worldwide and cause a variety of diseases in both healthy and immunocompromised humans. Inhalation of airborne fragments or spores is the usual route of lung infection. Nocardiosis is both a primary and an opportunistic infection process with compromised hosts, and there is extensive organ involvement, including the lungs, skin, central nervous system, kidneys, liver, and heart. The mortality is high (overall 50%, brain abscess 78%, lung <10%) and the causes of death include sepsis, brain abscess, and overwhelming pneumonia.

Adenomatoid tumor of the uterus - Corrected Proof

Yung-Hsiang Hsu — 2011-09-07

A 43-year-old woman had dysmenorrhea for more than 6 months. The patient had a total hysterectomy with diagnosis of adenomyosis. Grossly, one grayish-white well-defined tumor nodule 1.5 cm in diameter was seen in the corpus. Histopathology showed the tumor was composed of numerous cystic spaces mimicking lymphangioma (A). Immunohistochemistry showed strongly positive staining for cytokeratin in the cystic lining diagnostic of adenomatoid tumor (B). Adenomatoid tumors are commonly seen in the fallopian tubes. These tumors are sometimes found in the uterine wall, usually beneath the serosa and close to the cornua.

Williams-Beuren syndrome - Corrected Proof

2011-09-05

Williams-Beuren syndrome, Mendelian inheritance in Man number 194050, is a genetic disorder caused by microdeletion of the Williams-Beuren syndrome chromosomal region on chromosome 7, spanning 1.5 million to 1.8 million base pairs and containing around 26–28 genes. The genotype and phenotype correlation is still not fully understood. Clinically, patients present with multiple systemic disorders include distinctive facial features (). Infant hyperglycemia, feeding difficulties, colic, and growing problems may be encountered. The adult height is usually below the third percentile. Gross developmental delays, poor physical co-ordination, and connective tissue abnormalities such as overly loose joints are obvious. Moderate intellectual disability but with specific strengths in verbal short-term memory and language, overfriendliness, and an empathetic personality are commonly observed. Elastin arteriopathy occurs in 75% of patients with this syndrome. Any artery may be narrowed, and peripheral pulmonic stenosis is common in early infancy. Supravalvular aortic stenosis is the most common arteriopathy requiring surgical correction. Genetic diagnosis using fluorescence in situ hybridization to demonstrate deletion of the Williams-Beuren syndrome chromosomal region, which encompasses the elastin gene is the mainstay of laboratory diagnosis ().