Annals of Clinical and Laboratory Science

Because the differentiation between phenotypic expansion and blended phenotypes is not clear, the mixed phenotypes of blended rare genetic diseases make diagnosis difficult. We describe a family with the co-existence and co-segregation of generalized epilepsy with febrile seizures plus (GEFS+) and Kabuki syndrome (KS). The proband, a 7-year-old male, presented with GEFS+, dysmorphic facial features, short stature, developmental delay, and intellectual disability. Two novel missense mutations: p.G325A in the KDM6A gene responsible for KS and p...

Concomitant inflammatory bowel disease (IBD) and immune thrombocytopenic purpura (ITP) is a rare phenomenon. A shared immunologic pathway leading to mucosal inflammation and platelet destruction has been proposed. We report a case of a 14-year-old male who presented with abdominal pain, hematochezia, weight loss, and thrombocytopenia. Endoscopic and hematologic evaluations led to the diagnosis of ulcerative colitis (UC) and ITP, respectively. Initial treatment of his UC resulted in improvement in both gastrointestinal symptoms and platelet count...

Marfan syndrome is an autosomal dominant genetic disorder caused by a connective tissue defect. A nine-year-old girl was referred to our pediatric endocrinology clinic for tall stature. Physical examination revealed a lens dislocation with strabismus, high palate, positive wrist and thumb signs, joint hypermobility, and pes planus. Transthoracic echocardiography revealed dilatation of the aortic root. She was diagnosed with Marfan syndrome based on the revised Ghent diagnostic criteria. Molecular investigation identified a heterozygous c...

Colorectal cancer was estimated to have the fourth newest incident rate and to have the second highest death rate in 2015 according to the American Cancer Society. There were an estimated 132,700 new diagnoses of colorectal cancer made and approximately 69,000 deaths in 2015 attributing to this form of cancer. 5-fluorouracil (5-FU) or 5-FU with oxaliplatin (FOLFOX) continues to be the standard treatment protocol for patients presenting with colorectal cancer. However, treatment with FOLFOX and conventional chemotherapy has shown to lead to cancer recurrence and a number of toxic side effects...

Desmoplakin is an essential cytoplasmic plaque protein in desmosomes, and it is the major linker between intercellular junctions in the skin and heart. The role of desmoplakin is anchoring transmembrane cadherins to cytoplasmic intermediate filaments. The desmoplakin gene (DSP) is located on chromosome 6, and six common allelic disorders are associated with this gene, including autosomal-dominant or -recessive disorders that affect the skin, heart, hair, and nails. In particular, lethal acantholytic epidermolysis bullosa (LAEB) is an autosomal recessively inherited and extremely rare genetic skin disorder, and only three molecularly confirmed families with LAEB have been reported previously...

Extrauterine adenomyomas are defined as circumscribed tumor-like masses consisting of smooth muscle tissue, endometrioid glands and stroma. They are extremely rare tumors and similar to their uterine counterparts. We report case of a 50 year old female with an extrauterine adenomyoma of the liver associated with pelvic endometriosis. To the best of our knowledge, only fifteen cases of extrauterine adenomyomas have been reported with only one previous case in the liver. This is the first case of extrauterine adenomyoma of the liver associated with pelvic endometriosis...

This study aimed to evaluate the validity of the suggested method (SM) to estimate the urinary level of seven biochemical parameters within 24 hours with an innovative formula using morning and random urine specimens. A total of 133 clients referring to the laboratory of the Endocrinology & Metabolism Research Institute, Tehran University of Medical Sciences, participated voluntarily in the investigation with providing three urine samples of 24-hour, morning and random. Seven biochemical parameters (calcium, phosphorus, urea, creatinine, uric acid, microalbumin and protein) were measured in all three samples...

GOALS: In this study, predictive panels were constructed and validated to recognize an individual with and without nonalcoholic fatty liver disease (NAFLD) based on clinical and biochemical criteria. METHODS: Two hundred and thirty six non-alcoholic adults with no chronic viral hepatitis history were recruited from a medical center in Taiwan in 2013. All subjects were examined for body mass index (BMI), abdominal ultrasonography, blood liver function tests (including alanine aminotransferase [ALT], aspartate aminotransferase [AST], gamma glutamyl transpeptidase [GGT]), blood lipids (total cholesterol [TC] and triglyceride [TG]) and blood glucose (BG) tests...

GOALS: To raise awareness of the utility of flow cytometric detection of inflammatory markers in the early diagnosis of neonatal sepsis. PROCEDURES: In accordance with the Töllner scoring system, cases with ≥10 points are accepted as having "clinical sepsis" and cases with 0-4 points as having "no sepsis". The study group consisted of 50 newborns with clinical sepsis as well as a control group of 50 newborns without sepsis. In all cases, blood counts, C-reactive protein (CRP) levels, and procalcitonin (PCT) levels were recorded...

Hand, foot and mouth disease (HFMD) is a serious public health problem. Generally, it is considered that HFMD is mainly caused by enterovirus 71 (EV71) and coxsackievirus A16 (CVA16). Nevertheless, the incidence of HFMD caused by coxsackievirus A6 (CVA6) and coxsackievirus A10 (CVA10) has increased significantly and CVA6 and CVA10 have become major causes of HFMD epidemic. This study develops a duplex real-time reverse transcript polymerase chain reaction (RT-PCR) assay for simultaneous detection of CVA 6 and CVA 10...

AIMS: To compare the efficacy and the safety of low-dose (3.5 mg/kg) or standard-dose (5 mg/kg) of infliximab (IFX) for induction and maintenance treatment in Chinese patients with intestinal Behcet's disease (BD), and to identify potential predictors to corticosteroid-free clinical remission at week 30. METHODS: A prospective trial was conducted in 20 patients with moderate-to-severe active intestinal BD, followed up for 30 weeks. Ileocolonoscopic examinations were done at baseline and week 14...

BACKGROUND: Duodenal ulcer perforation (DUP) is a severe acute abdominal disease. Mean platelet volume (MPV) and platelet distribution width (PDW) are two platelet parameters, participating in many inflammatory processes. This study aims to investigate the relation of MPV/PDW and DUP. METHODS: A total of 165 patients were studied retrospectively, including 21 females and 144 males. The study included two groups: 87 normal patients (control group) and 78 duodenal ulcer perforation patients (DUP group)...

BACKGROUND: Vasculitis represents a specific pattern of inflammation of the blood vessel wall that can occur in any organ system of the body. The neutrophil to lymphocyte ratio (NLR) and red blood cell distribution width (RDW) are currently used as markers of inflammation in several diseases. OBJECTIVES: This study analyzed C-reactive protein level (CRP), erythrocyte sedimentation rate (ESR), white blood cell (WBC), NLR, and RDW in patients who had cutaneous vasculitis, or cutaneous vasculitis with systemic involvement, and in healthy controls...

BACKGROUND: To observe the thrombogenic activity of platelet-derived microparticles (PMPs) in PMP-free plasma from non-coronary artery disease (non-CAD) patients and explore the relationship between PMPs and thrombosis in acute coronary syndrome (ACS) patients. METHODS: Patients with ACS who were diagnosed at the outpatient department of cardiology in the People's Hospital of Xinjiang Uygur Autonomous Region, and non-CAD subjects were enrolled in the study from January 2011 to December 2014...

Extracranial internal carotid artery (ECICA) stenosis is a modifiable risk factor of ischemic stroke. VEGF plays a crucial role in the maintenance of endothelial integrity and physiological function. This study was designed to assess the correlations of VEGF polymorphisms with ECICA stenosis in ischemic stroke and to explore the relationships between these polymorphisms and different biochemical parameters. This study included a total of 650 ischemic stroke patients, 232 with ECICA stenosis while 418 had no ECICA stenosis as assessed by magnetic resonance angiography...

OBJECTIVES: It is known that CD3 and CD20 are homogenously expressed in T lineage and B lineage lymphoma, respectively; however, there are no standard guidelines to interpret immunohistochemistry findings. In this study, we investigated CD3 and CD20 immunohistochemical staining patterns of bone marrow (BM)-infiltrating lymphoma cells. METHODS: Among 297 patients diagnosed with malignant lymphoma, the BM biopsy slides of all 39 cases found to have BM infiltration (T lineage: 11; B lineage: 28) were reviewed...

BACKGROUND: Colorectal cancer (CRC) is a heterogeneous disease with complex etiology. New prognostic factors for this group of disease need to be investigated. This study evaluated the histopathological significance and prognostic impact of tumor budding in CRC. DESIGN: A total of 60 treatment naive consecutive patients undergoing surgical resection for CRC during the period of January 2011 to December 2013 were included in the study. Details of each patient related to their demographic and tumor profile were recorded...

PURPOSE: We explored the role of hepcidin in the progression of breast cancer. METHODS: A retrospective analysis of 25 breast cancer patients with bone metastases, 30 breast cancer patients without bone metastases, and 30 patients with breast hyperplasia was conducted to compare the differences in Hb, hepcidin, BMP6, IL-6, and sTfR among the three groups and explore the correlation of Hepcidin with BMP6 IL-6, Hb and sTfR. In addition, ROC analysis was performed to evaluate the diagnostic value of hepcidin, BMP6 and IL-6 in breast cancer and its bone metastasis, while multivariate Logistic regression analysis was conducted to compare various indicators in breast cancer and its bone metastasis...

Doxorubicin (DOX) cardiotoxicity is unpredictable and begins with the first dose of chemotherapy. This study aimed to obtain information about circulating microRNA of cancer patients in the early dose of DOX chemotherapy, who either did or did not develop cardiac abnormality after the completion of chemotherapy. Plasma of 20 patients treated for breast cancer with DOX-chemotherapy was analyzed using quantitative RT-PCR. Circulating microRNA profiles of patients with DOX cardiotoxicity were compared to microRNA profiles of patients without DOX cardiotoxicity by quantitative real-time PCR...

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