Clinical characteristics of central diabetes insipidus in Taiwanese children

Background/PurposeData on the clinical features of children with central diabetes insipidus (CDI) are lacking in Taiwan. This study investigated the clinical manifestations and etiology of CDI in Taiwanese children.MethodsFrom 1983 to 2012, 62 children with permanent diabetes insipidus were enrolled in the study. They were diagnosed at the Department of Pediatrics of National Taiwan University Hospital. Their medical records were thoroughly reviewed and their clinical symptoms and signs, laboratory data, and etiologies were analyzed.ResultsThe patients’ median age at diagnosis was 10 years and the median interval between initial manifestations and diagnosis was 0.5 years. The most common symptoms and signs were polyuria, polydipsia, nocturia, and growth retardation. Most patients had low urine osmolality and elevated plasma osmolality on diagnosis. Absence of a posterior pituitary hyperintense signal and thickening of the pituitary stalk were common findings on magnetic resonance imaging. Approximately 80% of the patients had anterior pituitary hormone deficiency and all patients had growth hormone deficiency. Approximately 60% of patients had intracranial lesions, the most common causes of which were germ cell tumor and Langerhans cell histiocytosis. Two patients were initially believed to have idiopathic CDI but intracranial lesions were detected during the follow-up period.ConclusionBecause a delayed diagnosis of CDI is common in Taiwanese children, a high index of suspicion is important. The underlying etiology of CDI in children may not initially be obvious. Long-term surveillance is therefore necessary, especially for the early detection of evolving treatable intracranial lesions

Genotype-phenotype correlation in Taiwanese children with diazoxide-unresponsive congenital hyperinsulinism

ObjectiveCongenital hyperinsulinism (CHI) is a group of clinically and genetically heterogeneous disorders characterized by dysregulated insulin secretion. The aim of the study was to elucidate genetic etiologies of Taiwanese children with the most severe diazoxide-unresponsive CHI and analyze their genotype-phenotype correlations.MethodsWe combined Sanger with whole exome sequencing (WES) to analyze CHI-related genes. The allele frequency of the most common variant was estimated by single-nucleotide polymorphism haplotype analysis. The functional effects of the ATP-sensitive potassium (KATP) channel variants were assessed using patch clamp recording and Western blot.ResultsNine of 13 (69%) patients with ten different pathogenic variants (7 in ABCC8, 2 in KCNJ11 and 1 in GCK) were identified by the combined sequencing. The variant ABCC8 p.T1042QfsX75 identified in three probands was located in a specific haplotype. Functional study revealed the human SUR1 (hSUR1)-L366F KATP channels failed to respond to intracellular MgADP and diazoxide while hSUR1-R797Q and hSUR1-R1393C KATP channels were defective in trafficking. One patient had a de novo dominant mutation in the GCK gene (p.I211F), and WES revealed mosaicism of this variant from another patient.ConclusionPathogenic variants in KATP channels are the most common underlying cause of diazoxide-unresponsive CHI in the Taiwanese cohort. The p.T1042QfsX75 variant in the ABCC8 gene is highly suggestive of a founder effect. The I211F mutation in the GCK gene and three rare SUR1 variants associated with defective gating (p.L366F) or traffic (p.R797Q and p.R1393C) KATP channels are also associated with the diazoxide-unresponsive phenotype

Clinicopathology of Severe Acute Respiratory Syndrome: An Autopsy Case Report

In mid-April 2003, a major outbreak of severe acute respiratory syndrome (SARS) developed in Taiwan. During the outbreak, SARS-associated coronavirus (SARS-CoV) was documented in 346 patients and 73 of them died. Autopsy was performed in 9 of the suspected SARS patients who died during the outbreak, but SARS was the cause of death in only 1 of these patients . Here we report the histological features of this patient and their clinicopathological correlations. The patient, a 36-year-old Indonesian woman, was a caretaker working for a Taiwanese family. She stayed in Taipei Jen-Chi Hospital from April 10 to April 19 to take care of her elderly employer. She developed fever on April 21 and respiratory distress on April 25, and received ribavirin, intravenous immunoglobulin, and steroid. The respiratory distress persisted and worsened, and intubation was performed on April 27. The respiratory condition improved initially after mechanical ventilation, but subcutaneous emphysema and pneumomediastinum developed on May 1. Her condition deteriorated rapidly and she died on May 2, 11 days after the onset of fever. Autopsy was performed on the same day. Histologically, the lungs showed severe diffuse alveolar damage and bronchopneumonia, but no viral inclusion. The spleen and lymph nodes revealed lymphoid depletion and the liver showed microvesicular steatosis. No specific pathological change was seen in the gastrointestinal tract and kidneys. SARS-CoV genome was detected in the nasopharyngeal aspirate and the autopsy lung specimen

1980年代解剖病理學的發展與演變

總括來說，1980年代解剖病理學的發展與演變可歸納成幾個方面來說明： (1)傳統病 理學觀念的衝擊和突破。 (2) 解剖率的持續下降。(3)病理學界所達成的成就。 (4) 新技術的應用和展望。 (5)臨床醫學和病理學的融合。#c389200

現代法醫病理學的發展與演變

在現代法醫病理學的領域中，最主要的演變和發展是： (1)分子生物學新科技的發展 對法醫病理學家的工作內容和觀念有很大的變格。 ( 2)特殊的高致死族群和新疾病 的不斷增加，造成非自然死亡的死亡案例劇增，因而形成對法醫病理學家們的一種挑 戰和衝擊，對法醫病理知識的要求也不斷地增加 。#c389300

法醫病理學的演變

在1980年代，隨著醫學及病理學的不斷進步，在法醫學病理學的領域中，有二個重要 的發展，一是藥物性猝死案例的研究及探討，二是dna 紋圖的發展與應用。二者均為 法醫學界帶來極大的衝擊及考驗，亦成為法醫病理學蛻變的契機。#c389300

Asymptomatic Thymic Carcinoma With Solitary Hepatic Metastasis Detected by Fluorodeoxyglucose Positron Emission Tomography

Thymic carcinoma is a rare anterior mediastinal malignancy. Most patients present initially with chest pain, cough or dyspnea. Asymptomatic patients account for less than one third of the total cases. Thymic carcinoma is aggressive and tends to metastasize to the lymph nodes, lungs, and bones, and less commonly to the liver, spleen, brain, and adrenal glands. We present a 49-year-old man who received abdominal ultrasound and magnetic resonance imaging for a health checkup, during which, a necrotic hepatic tumor was found incidentally. Fluorodeoxyglucose (FDG) positron emission tomography was performed to search for the primary site of malignancy, and lobulated FDG hypermetabolic lesions in the anterior mediastinum were found. The diagnosis of thymic carcinoma with liver metastasis was then confirmed after morphological and immunohistochemical studies of hepatic and mediastinal biopsy specimens