An ANKRD11 exonic deletion accompanied by a congenital megacolon in an infant with KBG syndrome

KBG syndrome is an autosomal dominant syndrome presenting with macrodontia, distinctive facial features, skeletal anomalies, and neurological problems caused by mutations in the ankyrin repeat domain 11 (ANKRD11) gene. The diagnosis of KBG is difficult in very young infants as the characteristic macrodontia and typical facial features are not obvious. The youngest patient diagnosed to date was almost one year of age. We here describe a 2-month-old Korean boy with distinctive craniofacial features but without any evidence of macrodontia due to his very early age. He also had a congenital megacolon without ganglion cells in the rectum. A de novo deletion of exons 5–9 of the ANKRD11 gene was identified in this patient by exome sequencing and real-time genomic polymerase chain reaction. As ANKRD11 is involved in the development of myenteric plexus, a bowel movement disorder including a congenital megacolon is not surprising in a patient with KBG syndrome and has possibly been overlooked in past cases.

Adrenal Cortical Neoplasm with Uncertain Malignant Potential Arising in the Heterotopic Adrenal Cortex in the Liver of a Patient with Beckwith-Wiedemann Syndrome

Patients with Beckwith-Wiedemann syndrome (BWS) are predisposed to developing embryonal tumors, with hepatoblastoma being the most common type. Our patient showed hemihypertrophy, macroglossia, and paternal uniparental disomy in chromosome 11 and was diagnosed with BWS. When the patient was 9 months old, a 2.5×1.5 cm oval hypoechoic exophytic mass was detected in the inferior tip of his right liver. Preoperative imaging identified it as hepatoblastoma; however, histologic, immunohistochemistry, and electron microscopic findings were compatible with adrenal cortical neoplasm with uncertain malignant potential. The origin of the adrenal tissue seemed to be heterotopic. Here, we describe for the first time an adrenal cortical neoplasm with uncertain malignant potential arising in the heterotopic adrenal cortex located in the liver of a patient with BWS.

Wharton Jelly Hair in a Case of Umbilical Cord Stricture and Fetal Death

No abstract available.

Chronic Placental Inflammation as a Risk Factor of Severe Retinopathy of Prematurity

BACKGROUND: Chronic placental inflammation (CPI) has been implicated in the pathogenesis of diseases in premature infants, whereas retinopathy of prematurity (ROP) is a major complication primarily affecting preterm and very low-birth-weight (VLBW) infants. This study aims to investigate the association between CPI and ROP in VLBW infants. METHODS: We performed a retrospective review of clinical records of VLBW infants born between 2013 and 2016. Placental pathology findings including CPI cases were analyzed using logistic regression to study infants’ morbidities and other clinical characteristics. RESULTS: A total of 402 infants with a mean (standard deviation) gestational age of 28.5 (2.8) weeks and birth weight of 1,027.2 (304.4) g were included. The incidence of ROP was 24.1%. CPI was found in 90 infants (22.4%), among which 28.9% (26 of 90) developed ROP, and 21.1% (19 of 90) underwent laser photocoagulation. Lower gestational age, lower birth weight, longer duration of oxygen supply, and presence of CPI were associated with the development of ROP. After adjustment for gestational age, birth weight, sex, duration of oxygen supply, and other overlapping placental pathology, CPI was associated with the odds for type 1 ROP that required laser photocoagulation (adjusted odds ratio, 2.739; 95% confidence interval, 1.112 to 6.749; p = .029). CONCLUSIONS: CPI was associated with severe ROP requiring treatment with laser photocoagulation in VLBW infants.

Budd-Chiari syndrome with antiphospholipid syndrome and systemic lupus erythematosus in a patient with Klinefelter's syndrome / 영남의대학술지

Klinefelter's syndrome is the most common congenital abnormality that causes primary hypogonadism. It is associated with diseases that predominantly affect women, such as systemic lupus erythematosus (SLE), and it can sometimes cause veno-occlusive disease. We experienced a case of Budd-Chiari syndrome (BCS) in a 33-year-old man with Klinefelter's syndrome presented with hematemesis and edema in both lower extremities. The clinical and laboratory findings were compatible with SLE, antiphospholipid syndrome, and BCS. To the best of our knowledge, this is the first case report to describe a simultaneous presentation of these four clinical syndromes in a single patient.

Budd-Chiari syndrome with antiphospholipid syndrome and systemic lupus erythematosus in a patient with Klinefelter's syndrome / 영남의대학술지

Klinefelter's syndrome is the most common congenital abnormality that causes primary hypogonadism. It is associated with diseases that predominantly affect women, such as systemic lupus erythematosus (SLE), and it can sometimes cause veno-occlusive disease. We experienced a case of Budd-Chiari syndrome (BCS) in a 33-year-old man with Klinefelter's syndrome presented with hematemesis and edema in both lower extremities. The clinical and laboratory findings were compatible with SLE, antiphospholipid syndrome, and BCS. To the best of our knowledge, this is the first case report to describe a simultaneous presentation of these four clinical syndromes in a single patient.

A Pyloric Gland-Phenotype Ovarian Mucinous Tumor Resembling Lobular Endocervical Glandular Hyperplasia in a Patient with Peutz-Jeghers Syndrome

We describe an ovarian mucinous neoplasm that histologically resembles lobular endocervical glandular hyperplasia (LEGH) containing pyloric gland type mucin in a patient with Peutz-Jeghers syndrome (PJS). Although ovarian mucinous tumors rarely occur in PJS patients, their pyloric gland phenotype has not been clearly determined. The histopathologic features of the ovarian mucinous tumor were reminiscent of LEGH. The cytoplasmic mucin was stained with periodic acid-Schiff reaction after diastase treatment but was negative for Alcian blue pH 2.5, suggesting the presence of neutral mucin. Immunohistochemically, the epithelium expressed various gastric markers, including MUC6, HIK1083, and carbonic anhydrase-IX. Multiple ligation-dependent probe amplification detected a germline heterozygous deletion mutation at exons 1–7 of the STK11 gene (c.1-?_920+?del) in peripheral blood leukocytes and mosaic loss of heterozygosity in ovarian tumor tissue. Considering that LEGH and/or gastric-type cervical adenocarcinoma can be found in patients with PJS carrying germline and/or somatic STK11 mutations, our case indicates that STK11 mutations have an important role in the proliferation of pyloric-phenotype mucinous epithelium at various anatomical locations.

Diagnostic Significance of Cellular Neuroglial Tissue in Ovarian Immature Teratoma

BACKGROUND: Immature teratoma (IT) is a tumor containing immature neuroectodermal tissue, primarily in the form of neuroepithelial tubules. However, the diagnosis of tumors containing only cellular neuroglial tissue (CNT) without distinct neuroepithelial tubules is often difficult, since the histological characteristics of immature neuroectodermal tissues remain unclear. Here, we examined the significance of CNT and tried to define immature neuroectodermal tissues by comparing the histological features of neuroglial tissues between mature teratoma (MT) and IT. METHODS: The histological features of neuroglial tissue, including the cellularity, border between the neuroglial and adjacent tissues, cellular composition, mitotic index, Ki-67 proliferation rate, presence or absence of tissue necrosis, vascularity, and endothelial hyperplasia, were compared between 91 MT and 35 IT cases. RESULTS: CNTs with a cellularity grade of ≥ 2 were observed in 96% of IT cases and 4% of MT cases (p < .001); however, CNT with a cellularity grade of 3 in MT cases was confined to the histologically distinct granular layer of mature cerebellar tissue. Moreover, CNT in IT exhibited significantly higher rates of Ki-67 proliferation, mitoses, and necrosis than those in MT (p < .001). Furthermore, an infiltrative border of neuroglial tissue and glomeruloid endothelial hyperplasia were significantly more frequent in IT cases than in MT cases (p < .001). CONCLUSIONS: Our results suggest that if CNT with a cellularity grade of ≥ 2 is not a component of cerebellar tissue, such cases should be diagnosed as IT containing immature neuroectodermal tissue, particularly if they exhibit an infiltrative border, mitoses, necrosis, and increased Ki-67 proliferation.

A case of prenatally diagnosed extrapulmonary arteriovenous malformation associated with a complex heart defect

Pulmonary arteriovenous malformations are rare vascular anomalies of the lung, only a few cases of which have been diagnosed prenatally. The diagnostic clue for prenatal diagnosis was cardiomegaly with a particularly enlarged left atrium. All previous cases of pulmonary arteriovenous malformations diagnosed prenatally have been reported as an isolated anomaly or in association with simple heart defects. We here describe the first case of a pulmonary arteriovenous malformation with a complex heart defect that was diagnosed prenatally at 21.0 weeks of gestation and confirmed by postmortem autopsy.

Thrombotic Thrombocytopenic Purpura Associated with Bone Marrow Necrosis Complicating Metastatic Extra-Mammary Paget's Disease

As extra-mammary Paget's disease is rare and usually diagnosed at early stage when it is highly curable with surgical resection, it is much rarer to see patients with recurrent metastatic disease. Thrombotic thrombocytopenic purpura in patients with metastatic solid cancer is also a rare disease and may result from bone marrow metastasis or bone marrow necrosis. For the latter, the majority of cases are not eligible for systemic chemotherapy for rapid disease progression and poor performance status. Herein, authors report a patient with thrombotic thrombocytopenic purpura associated with bone marrow necrosis complicating extra-mammary Paget's disease who was successfully treated with docetaxel and carboplatin combination chemotherapy.

Treatment of Presumptive BK Nephropathy with Ciprofloxain in Kidney Transplant Recipients: Three Case Reports / 대한이식학회지

BK virus nephropathy has emerged as an important cause of renal allograft dysfunction. Reduction in immunosuppression is the mainstay of BK virus nephropathy treatment. However, decreasing immunosuppressive medications is not sufficient for treatment of BK virus nephropathy. Therefore, there is a need for other treatment strategies such as cidofovir, leflunomide, and intravenous immunoglobulin in combination with immunosuppression reduction. Ciprofloxacin has recently been reported to have antiviral activity and decrease BK viral load in kidney transplant recipients. These findings suggest that the use of ciprofloxacin represents a valuable treatment strategy in patients with BK virus nephropathy. Here, we report on our experience with three patients who developed presumptive BK virus nephropathy after kidney transplantation, who, after 2 months of ciprofloxacin treatment, showed disappearance of BK viremia and improvement in the estimated glomerular filtration rate. Ciprofloxacin may be considered an effective treatment option for BK viremia in kidney transplant recipients.

Transurethral Rescetion Syndrome after Transurethral Resection of Bladder Tumor in 2 Patients on Maintenance Hemodialysis / 대한신장학회지

Transurethral resection syndrome (TURS) is one of the complications of endoscopic transurethral operation with irrigation fluid. TURS comprehensively refer to several clinical symptoms and signs caused by intravascular absorbtion of irrigation fluid, hypertension, bradycardia, arrhythmia, respiratory distress, hypotension, confusion, blindness, seizure, coma, hyponatremia, and hypoosmolarity. TURS is mainly known as the complication of the transurethral resection of prostate (TURP), and rarely found in the procedures such as transurethral resection of bladder tumor (TUR-BT), hysteroscopy, cystoscopy, and arthroscopy. Only a few cases of TURS after TUR-BT have been reported. The patients on maintenance hemodialysis were restricted in the amount of water intake for volume control. They were susceptible to the absorption of irrigation fluid during TUR-BT since they had anuria. We hereby report the 2 cases maintenance hemodialysis patients who were led to TURS after TUR-BT.

A Case of Recurrent C1q Nephropathy Treated by Immunosuppressant Combination Therapy / 대한신장학회지

The definition of C1q nephropathy has been categorized since 1985. However, the clinical correlation and pathophysiology has not yet been fully revealed. Therefore, the treatment of C1q nephropathy has not been established. Our subject was a 23 year-old female patient with both leg edema and oliguria, who was presented with weight gain. Renal biopsy confirmed C1q nephropathy. Prednisolone and cyclosporine therapy was selected for treatment. After 2 weeks of treatment, the patient lost 8 kg of body weight and all laboratory examination results were normalized. Both leg edema and oliguria were resolved. After 21 weeks of regular follow-up, she stopped the medicine by herself. Eight weeks later, the patient came to the Emergency room because both leg edema recurred. Same regimen was administered for 3 weeks, and complete remission was achieved again.

A case of borderline clear cell fibroadenoma / 대한산부인과학회지

Clear cell tumor of borderline malignancy has been reported to account for 5 to 8% of all clear cell neoplasms, and <1% of borderline malignancies of the ovary. Borderline clear cell fibroadenoma with or without microinvasion mostly occurs in women with middle age, and the presenting symptoms associated with this tumor are non-specific. The clinico-pathologic features of borderline clear cell fibroadenoma are not well known because of its rarity. Furthermore, there is no consensus for treating the disease. Thus, we report a case of borderline clear cell fibroadenoma presenting as ovarian fibroadenoma with a review of literature.

Transient newborn neutropenia immediately after chemotherapy during pregnancy: A case report / 대한산부인과학회지

The incidence of acute leukemia in pregnancy is as low as 1 in 75,000 pregnancies. There is no established guideline for the treatment of leukemia during midtrimester pregnancy. But nowadays, consensus is not to delay the leukemia treatment with chemotherapy even in pregnancy. Many authors reported successful outcomes of mothers and newborns. Because of the leukemia itself and side effects of the chemotherapy, anemia, thrombocytopenia and neutropenia are commonly encountered in women treated with chemotherapy. With chemotherapy in utero just before the delivery, the newborn could be neutopenic. We report one case of midtrimester pregnant woman who took chemotherapy for leukemia and suffered from neutropenic fever and preterm labor. The newborn was neutropenic. However, both the mother and the baby were successfully recovered from neutropenia.

Lipoleiomyosarcoma of the uterus: A case report and review / 대한산부인과학회지

Heterologous sarcomas of the uterus are rare neoplasms. We report a rare case of heterologous uterine sarcoma composed of leiomyosarcomatous and liposarcomatous components with a brief review of literature. A 53-year-old woman had vaginal spotting. The endometrial biopsy performed at a local clinic revealed a high grade spindle cell sarcoma. Pelvis magnetic resonance imaging showed about 5.4 cm sized multiseptated T1 and T2 high signal mass in a uterine fundus without lymph node metastasis or pelvic wall involvement. Total laparoscopic hysterectomy, bilateral salpingo-oophorectomy, pelvic and para-aortic lymph node dissection, and peritoneal washing cytology were performed. Pathologic diagnosis was made as leiomyosarcoma with liposarcomatous differentiation (lipoleiomyosarcoma). The patient received adjuvant postoperative radiotherapy (5040 cGy). Follow up images showed no evidence of disease 8 months after surgery.

A Case Report of Tuberculous Brain Abscess and Tuberculous Peritonitis Developing Due to Paradoxical Reactions / 결핵및호흡기질환

While receiving appropriate treatment, patients with tuberculosis occasionally have unusual, paradoxical reactions, with transient worsening of lesions or the development of new lesions. This report is a case of tuberculosis brain abscess and tuberculosis peritonitis with intra-abdominal abscess that developed during appropriate anti-tuberculosis chemotherapy. A 45-year-old male patient had been diagnosed as with all-drug susceptible pulmonary tuberculosis with pleurisy. Subsequently, the patient underwent standard treatment with anti-tuberculosis therapy; the pulmonary lesions improved. Three months after initial treatment, the patient developed brain abscesses and peritonitis. With the addition of corticosteroid treatment, the patient's neurologic symptoms were relieved. Exploratory laparotomy with surgical drainage was performed and a diagnosis of tuberculosis peritonitis was confirmed on biopsy. Anti-tuberculosis therapy was continued for 19 months, the patient improved eventually without further complications, although the therapeutic regimen had not been altered. In this case, the paradoxical response to treatment may have been involved in the pathogenesis of disease.

Osteomyelitis of the Rib Following Internal Jugular Vein Catheter Insertion / 대한신장학회잡지

Internal jugular vein catheter is frequently used for emergency hemodialysis. Various complications have been reported. Infection is one of the problem after long term use. There have been reports of osteomyelitis of clavicle secondary to subclavian catheterization but not osteomyelitis associated with internal jugular vein catheterization. There are two possible pathways of infection. One is hematogenous spread from another focus in the body or sepsis. The other is transmission of focal infection. Manipulation of the needle may perforate the vein and produce hematoma. The infected hematoma may have resulted in abscess formation around the rib and subsequent osteomyelitis. Herein we report a case of osteomyelitis of the rib complicating internal jugular vein catheterization with a review of the literature.

ST-T Change on Electrocardigraphy in Old Diabetics Without Chest Pain

BACKGROUND: Silent myocardial ischemia is often found in old diabetics. Many diagnostic tools are used for diagnosis of angina. But these tools are difficult to use in primary care. Therefore we have planned to investigate the change of electrocardiography in old diabetics, using resting electrocardiogram which is available for primary care. METHOD: 67 patients with ST-T change group and 262 patients with control group were included in this study. Patients with chest pain or heart problem were excluded. The resting electrocardigraphy is examined by standard 12 lead electrocardiogram. RESULTS: There are differences of diabetes, HDL-cholesterol between ST-T change group and control group. Diabetes and HDL- cholesterol are significant factors that change ST-T wave in the resting electrocardigraphy. CONCLUSION: ST-T change of old diabetics without chest pain is more frequent than non diabetics. That means myocardial ischemia and requires treatment at secondary or third medical center. In conclusion, regular electrocardigraphy monitoring at primary care should be required in old diabetics.

Effects of 2,3,7,8-tetrachlorodibenzo- p-dioxin(TCDD) on Glomerular Mesangial and Tubular Epithelial Cell Activation / 대한신장학회잡지

BACKGROUND: 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD), a prototype compound of polyhalogenated aromatic hydrocarbons, produces diverse biologic effects. Although nephrotoxicity of aromatic hydrocarbons such as benzo[a]pyrene(BP) is well known, little is known about the effects of TCDD on renal function. Thus, the present study examined the effects of TCDD on cell viability, proliferation, and extracellular matrix(ECM) synthesis by glomerular mesangial cells, LLC-PK1 cells representing proximal tubular epithelial cells, and MDCK cells representing distal epithelial cells and compared with the effects of BP. METHODS: Quiescent cells were incubated with serum free media containing different concentrations of TCDD(1-100 nM) and BP(3 and 30 micro M) for 24- 96 hours. Cell viability and proliferation were assessed by lactate dehydrogenase(LDH) release and [3H]-thymidine incorporation, respectively. Secreted fibronectin was measured by Western blot analysis. RESULTS: When cells were continuously exposed to TCDD, LDH release significantly increased in MMC, LLC-PK1, and MDCK in a dose- and a time- dependent manner. [3H]-Thymidine incorporation was increased in MMC and LLC-PK1 but decreased in MDCK by TCDD. Contrary to TCDD, 30 micro BP significantly inhibited [3H]-thymidine incorporation in MMC and MDCK but not in LLC-PK1. Both TCDD and BP increased fibronectin secretion by MMC, LLC-PK1, and MDCK cells, suggesting that TCDD and BP may cause renal fibrosis leading to loss of renal function. CONCLUSION: These data provide experimental evidence that TCDD can alter cell viability and proliferation and increase ECM synthesis by renal cells which may lead to renal injury.