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Rare anemias

Amanda C Smith, Yoko Ito, Afsana Ahmed, Jeremy A Schwartzentruber, Chandree L Beaulieu, Erika Aberg, Jacek Majewski, Dennis E Bulman, Karina Horsting-Wethly, Diana Vermunt-de Koning, Richard J Rodenburg, Kym M Boycott, Lynette S Penney
Primary CoQ10 deficiency is a clinically and genetically heterogeneous, autosomal recessive disorder resulting from mutations in genes involved in the synthesis of coenzyme Q10 (CoQ10 ). To date, mutations in nine proteins required for the biosynthesis of CoQ10 cause CoQ10 deficiency with varying clinical presentations. In 2009 the first patient with mutations in COQ9 was reported in an infant with a neonatal-onset, primary CoQ10 deficiency with multi-system disease. Here we describe four siblings with a previously undiagnosed lethal disorder characterized by oligohydramnios and intrauterine growth restriction, variable cardiomyopathy, anemia, and renal anomalies...
March 20, 2018: Journal of Inherited Metabolic Disease
Ulkem Kocoglu Barlas, Hasan Serdar Kıhtır, Nilufer Goknar, Melike Ersoy, Nihal Akcay, Esra Sevketoglu
BACKGROUND: Hemolytic uremic syndrome (HUS) is a clinical syndrome characterized by hemolytic anemia, thrombocytopenia, and acute kidney injury. Atypical hemolytic uremic syndrome (aHUS) is a devastating disease with significant mortality and high risk of progression to end-stage kidney disease. It is mostly caused by dysregulation of the alternative complement pathway. Cobalamin C (Cbl C) defect is a genetic disorder of cobalamin metabolism and is a rare cause of HUS. CASE-DIAGNOSIS/TREATMENT: We present a 6-month-old male infant who was admitted to the pediatric intensive care unit (PICU) due to restlessness, severe hypertension, anemia, respiratory distress, and acute kidney injury...
March 20, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Claudia Salomone B, Isabel Ogueta C, Carlos Reyes V, Gloria Durán S, Noemí Aguirre, Angélica Wietstruck
Congenital erythropoietic porphyria is an extremely rare, autosomal recessive, non-acute cutaneous porphyria, caused by uroporphyrinogen III synthase deficiency, codificated by UROS gene on the chromosome 10q26.2. Porphyrins deposit in cornea, bones and teeth. The first symptoms could be manifested in early childhood, with skin fragility, vesicles and bullae. Severe course produces acral tissues mutilation, eye involvement, hemolytic anemia and hypersplenism. The treatment is complex and it is based in the photoprotection...
April 1, 2018: Archivos Argentinos de Pediatría
Qian Zhang, Le Wang, Hongbing Zeng, Yongman Lv, Yi Huang
BACKGROUND: Pulmonary hypertension (PH) is a rare disease often associated with high mortality and is recently recognized as a common complication secondary to chronic kidney disease (CKD). Epidemiological data for this disorder across the spectrum of CKD is poorly understood. METHODS: We retrospectively analyzed 705 CKD patients with complete clinical records from July 2013 to September 2015. All the patients were estimated by echocardiography and PH was defined as pulmonary artery systolic pressure (PASP) > 35 mmHg...
March 20, 2018: BMC Nephrology
Steve Taylor, Kimberly Eisenstein, Vanessa Gildenstern, Harper Price, Pooja Hingorani, Apurvi Patel, Nathan Page, Smita Bailey, David Carpentieri
Infantile choriocarcinoma (ICC) is a rare, highly malignant form of gestational trophoblastic neoplasia. Rapid diagnosis and initiation of treatment are paramount in reaching a successful outcome. Patients with these tumors typically present with a triad of anemia, hepatomegaly, and precocious puberty. Cutaneous manifestations of ICC are extraordinarily rare with few documented cases. Here, we describe a male neonate who presented to our Dermatology clinic with a rapidly growing, markedly vascular glabellar mass associated with abnormal laboratory values suggestive of Kasabach-Merritt phenomenon...
January 1, 2018: Pediatric and Developmental Pathology
Jaime S Rosa, Van B Vuong, Orly Haskin, Anne Y Liu
Background: Recombinant human erythropoietin, such as epoetin alfa and darbepoetin alfa, is an important therapy for anemia due to chronic renal failure. Allergy to recombinant human erythropoietin and the need for desensitization are rare. Case presentation: We report here a novel epoetin alfa outpatient desensitization protocol in a girl who developed delayed cutaneous hypersensitivity to subcutaneous epoetin alfa and intravenous darbepoetin alfa. An initial attempt at traditional epoetin alfa desensitization failed, so we created a slower 17-day outpatient desensitization that succeeded and allowed treatment continuation...
2018: Allergy, Asthma, and Clinical Immunology
Ramona Weber, Rainer Hospes, Axel Wehrend
The aim of this study was to summarize the current status of the possible causes, clinical symptoms and pathogenesis of abortion in the mare and to evaluate the frequency of varying causes of abortion in German thoroughbred breeding. An analysis of the literature using electronic libraries, journals and textbooks was performed. In addition, the results of examinations of 123 abortions of thoroughbred breeding in central Germany were evaluated. In the literature, bacterial infections are the most frequently described cause of abortion...
February 2018: Tierärztliche Praxis. Ausgabe G, Grosstiere/Nutztiere
Nadim Mahmud, Kirk J Wangensteen
Prostate cancer is commonly diagnosed by using a transrectal ultrasound (TRUS)-guided biopsy. Although this procedure is usually well tolerated, rarely it may be complicated by massive rectal bleeding. We report a case of a 77-year-old male who underwent a TRUS biopsy and subsequently developed recurrent episodes of rectal bleeding with syncope and anemia requiring the transfusion of multiple units of blood. A sigmoidoscopy revealed the source of the bleeding: a large hemorrhoid on the anterior wall of the rectum with an overlying ulceration...
February 2018: Annals of Coloproctology
Emily Aherne, Katie Beauchamp, Niamh Maher, Thomas Walsh, William Boyd, Maeve Eogan, Leo Lawler
A 32-year-old primiparous woman presented with severe abdominal pain at 21 weeks' gestation. Background history of laparoscopy for chronic pelvic pain and a spontaneous miscarriage was noted. On examination, she was peritonitic and tachycardic with low grade fever and anemia. MRI abdomen demonstrated a uterine rupture with a large cap of clotted blood overlying the uterine fundus with the appearance of a "shower cap" and large volume haemoperitoneum, the presumptive diagnosis was uterine rupture with placental extrusion...
May 2017: Ulster Medical Journal
Khadega A Abuelgasim, Hinna Rehan, Maha Alsubaie, Nasser Al Atwi, Mohammed Al Balwi, Saeed Alshieban, Areej Almughairi
BACKGROUND: Chronic lymphocytic leukemia and chronic myeloid leukemia are the most common types of adult leukemia. However, it is rare for the same patient to suffer from both. Richter's transformation to diffuse large B-cell lymphoma is frequently observed in chronic lymphocytic leukemia. Purine analog therapy and the presence of trisomy 12, and CCND1 gene rearrangement have been linked to increased risk of Richter's transformation. The coexistence of chronic myeloid leukemia and diffuse large B-cell lymphoma in the same patient is extremely rare, with only nine reported cases...
March 11, 2018: Journal of Medical Case Reports
Amer A Lardhi, Abdullah K Al-Mutairi, Mohammed H Al-Qahtani, Atheer K Al-Mutairi
Rosai-Dorfman disease is a rare histiocytic proliferative disorder that commonly presents with a massive lymphadenopathy and a variety of constitutional symptoms. Severe hemolytic anemia is an infrequent complication of this disease. Although the etiology of the condition is unknown, infectious agents including viruses have been implicated. We describe a 2-year-old female child who presented with fever, pallor, and generalized lymphadenopathy complicated by the development of autoimmune hemolytic anemia. A review of the literature of this condition is also provided...
January 2018: Case Reports in Oncology
Chisa Fukasawa, Saori Ooishi, Takuma Kumagai, Megumi Koshiisi, Yuki Sueki, Kei Nakajima, Toru Mitsumori, Yoko Yoshida, Hideki Kato, Masaomi Nangaku, Toshiyuki Miyata, Keita Kirito
Herein, we present an elderly onset case of aHUS successfully treated with eculizumab. An 80-year-old woman with severe anemia, thrombocytopenia, and acute renal dysfunction was admitted to our hospital. A laboratory test revealed steep elevation in the LDH level, and the peripheral blood smear showed erythrocyte fragmentations. Accordingly, we diagnosed thrombotic microangiopathy, and treatment with plasma exchange was immediately initiated. In addition, she required hemodialysis because of rapid impairment of the renal function...
2018: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
Cahit Kural, Mehmet Ilker Ozer, Mehmet Can Ezgu, Royal Mehtiyev, Soner Yasar, Ahmet Murat Kutlay, Mehmet Kadri Daneyemez, Onder Onguru, Ersin Erdogan, Yusuf Izci
Intracranial aspergillosis is a rare infectious disease of the central nervous system with high mortality rates. Our aim is to present 3 cases of intracranial aspergillosis who were surgically treated with intracavitary amphotericin B administration. First case was a 21-year-old male patient. Allogeneic stem cell transplantation treatment was performed because of aplastic anemia and vocal cord paralysis developed 10 days after treatment. Multiple aspergillosis abscesses were observed in the cranial magnetic resonance imaging (MRI)...
March 2, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
Qurrat Ul Ain, Huzaifa Saleem, Sarwat Iqbal, Rabia Ghayas
Paroxysmal Nocturnal Haemoglobinuria (PNH) is an acquired, rare life-threatening disorder characterised by compliment mediated hemolytic anemia, thrombosis and impaired bone marrow function. It occasionally presents in childhood or adolescence. This is a case of a 14-year old female presented with complaints of shortness of breath, palpitation and abdominal pain whose laboratory test results were consistent with Coomb's test negative haemolytic anaemia. Contrast enhanced Computed Tomography Scan (CT scan) of abdomen revealed splanchnic circulation thrombosis as well as partially occluding thrombus in the inferior vena cava...
January 2018: Journal of Ayub Medical College, Abbottabad: JAMC
Praveena Nediyara Bhaskaran, Mammen Puliyel, Melissa Myers, Nazha Abughali
BACKGROUND: Infectious mononucleosis is usually a self-limiting illness, but can be rarely associated with complications. CASE CHARACTERISTICS: A 17-year-old boy with Epstein-Barr virus related infectious mononucleosis and cold antibody-mediated autoimmune hemolytic anemia with incidentally noted multiple pulmonary nodules. OBSERVATIONS: Nodules regressed over the next few weeks without specific therapy. MESSAGE: Pediatricians need to be aware of this rare clinical presentation of infectious mononucleosis so that further invasive testing can be avoided...
February 15, 2018: Indian Pediatrics
Sara Pelucchi, Raffaella Mariani, Giulia Ravasi, Irene Pelloni, Massimo Marano, Lucio Tremolizzo, Massimo Alessio, Alberto Piperno
INTRODUCTION: Aceruloplasminemia is an ultra-rare hereditary disorder characterized by iron-restricted microcytic anemia and tissue iron overload associated with diabetes, retinal and progressive neurological degeneration. We describe genotypes and phenotypes at diagnosis, and disease evolution of seven Italian patients. METHODS: Anagraphical, biochemical, genetic, clinical and instrumental data were collected at diagnosis and during a long-term follow-up. Mutations, ferroxidase activity and Western Blot analysis of ceruloplasmin were performed according to standard protocols...
February 24, 2018: Parkinsonism & related Disorders
Emre Tekgündüz, Mehmet Yılmaz, Mehmet Ali Erkurt, Ilhami Kiki, Ali Hakan Kaya, Leylagul Kaynar, Inci Alacacioglu, Guven Cetin, Ibrahim Ozarslan, Irfan Kuku, Gulden Sincan, Ozan Salim, Sinem Namdaroglu, Abdullah Karakus, Volkan Karakus, Fevzi Altuntas, Ismail Sari, Gulsum Ozet, Ismet Aydogdu, Vahap Okan, Emin Kaya, Rahsan Yildirim, Esra Yildizhan, Gokhan Ozgur, Osman Ilhami Ozcebe, Bahriye Payzin, Seval Akpinar, Fatih Demirkan
Thrombotic microangiopathies (TMAs) are rare, but life-threatening disorders characterized by microangiopathic hemolytic anemia and thrombocytopenia (MAHAT) associated with multiorgan dysfunction as a result of microvascular thrombosis and tissue ischemia. The differentiation of the etiology is of utmost importance as the pathophysiological basis will dictate the choice of appropriate treatment. We retrospectively evaluated 154 (99 females and 55 males) patients who received therapeutic plasma exchange (TPE) due to a presumptive diagnosis of TMA, who had serum ADAMTS13 activity/anti-ADAMTS13 antibody analysis at the time of hospital admission...
February 20, 2018: Transfusion and Apheresis Science
Maghsood Mehri, Maryam Zarin, Fariba Ardalani, Hossein Najmabadi, Azita Azarkeivan, Maryam Neishabury
Sideroblastic anemias are heterogeneous rare hematological disorders, representing diverse phenotypes. In this study, the genetic cause of congenital, transfusion dependent anemia in four unrelated families consisting of eighteen individuals, with one affected member was investigated. Probands were suspected to rare anemias, including sideroblastic anemia. Whole exome sequencing in probands followed by segregation analysis in families was performed. Two novel frame shift mutations and one previously reported missense mutation in SLC25A38 gene was identified in these families...
February 22, 2018: Blood Cells, Molecules & Diseases
Tomasy Sarosiek, Małgorzata Stelmaszuk
Small intestine tumors are rarely diagnosed as they constitute only 0.6% of all malignant tumors, including about 1-3% of malignant neoplasms of the gastrointestinal tract. They also advocate for 0.2% of deaths caused by malignant tumors. Factors that increase the risk of disease include Crohn's disease, familial adenomatous polyposis (FAP), Lynch syndrome (HNPCC - hereditary non-polyposis colorectal cancer), Peuz-Jeghers syndrome, celiac disease and acquired immunodeficiency syndrome (AIDS). Diagnosis of small intestinal tumors is difficult because the symptoms reported by patients are not characteristic...
February 23, 2018: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
Vijeta Pamudurthy, Raju Z Abraham, Thomas Betlej, Ashish Shah, Dong Kim, Brian Sasso, Abraham Chacko
Background and study aims  Endoscopic retrograde cholangiopancreatography (ERCP) is an invasive diagnostic and interventional procedure used in conditions related to the pancreas and biliary tract. It has a complication rate ranging from 4 % to 10 %. Severe complications are few with the most common of them being post-ERCP pancreatitis, post-sphincterotomy bleeding, and perforation. A rare, but potentially life-threatening complication of ERCP is splenic injury. We report the case of a 60-year-old female with choledocholithiasis who sustained splenic decapsulation following ERCP...
March 2018: Endoscopy International Open
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