Blood transfusion and lung surgeries in pediatric age group: a single center retrospective study

Incompatibility of blood groups or unexpected antibodies are primary considerations when acute hemolysis occurs during or after transfusion. However, less attention is paid to drug-induced immune hemolytic anemia (DIIHA), which is a rare but potentially life-threatening autoimmune disease. We present the case of a 34-year-old woman (group A, RhD+) who was treated with multiple antibiotics after meningioma resection. As her hemoglobin (Hb) decreased significantly from 109 g/L to 52 g/L without obvious bleeding, a blood transfusion was conducted soon after the medication, during which acute hemolysis occurred. An unexpected antibody, anti-M (MNS blood group system), was identified in the patient. It was confirmed that both the recipient and donor were group A, M antigen negative (M−) with CCDee phenotype, and no agglutination reactivity was observed in major crossmatch by testing the specimens before and after transfusion. Meanwhile, the results of the direct antiglobulin test (DAT) changed from negative to positive. Anti-meropenem, a drug-dependent antibody of meropenem, was detected, and hemolysis resolved after cessation. Anti-meropenem may mainly act through an \     

Neuroleptic malignant syndrome: occurrence in a child after reconstructive surgery

The occurrence of the rare but potentially fatal neuroleptic malignant syndrome must be considered by the surgeon treating a patient who develops hyperthermia, mental abnormalities, autonomic instability, and muscle rigidity after exposure to phenothiazines or other neuroleptic drugs. The dopamine agonist bromocriptine appears to be the treatment of choice in adults and seemed to be effective and well tolerated in our patient. Although the syndrome cannot be prevented, recognition is crucial, since effective general and specific therapy is available. Differentiating neuroleptic malignant syndrome from malignant hyperthermia allows early appropriate treatment with bromocriptine.     

Hookworm Anemia in a Peritoneal Dialysis Patient in China

Hookworm infections as well as other intestinal nematodiases are endemic in China. In this case, a 70-year-old male showed symptoms of chest tightness, shortness of breath, and both lower extremities edema. The diagnostic result was chronic renal insufficiency, chronic kidney disease (5th stage), and renal anemia at first. Then, he received treatment with traditional drugs. However, this treatment did not help to alleviate the symptoms of the patient significantly. The results of gastroendoscopy showed hookworms in the duodenum, also confirmed by pathology examination. Anemia was markedly ameliorated after eliminating the parasites. The results mentioned above suggested that ancylostomiasis was the leading causes of anemia in this patient, and the etiology of anemia in uremic patients should be systematically considered. Especially when anemia could not be cured by regular treatments, rare diseases should be investigated.     

罕见疾病及孤儿药物研究现状及进展

文中简述了罕见疾病的定义、发病原因、分类,总结了国内外罕见疾病研究和孤儿药物研发的现状,分析了生物技术的研究手段在罕见疾病药物研发方面的应用,进一步阐述了罕见疾病研究和孤儿药物开发的必要性和紧迫性,对推动科学技术的进步和人类健康事业的发展具有深远的意义。     

罕见病基因治疗与孤儿药

孤儿药因面向的罕见病患者群小、市场需求低、研发成本高、缺乏政策支持等,其发展面临困境。随着精准医疗概念的提出,基 因治疗因能够从根本出发,给患者提供 “一劳永逸”的治疗,备受关注。基因治疗以单基因罕见病的治疗作为极佳切入点,为孤儿药的 研发带来了新的希望。概述基因治疗针对的疾病对象、实施策略和属性以及基因药物的结构及基因治疗的载体,以血友病的基因治疗为 例回顾罕见病基因治疗的发展,并分析罕见病基因治疗药物研发现状。     

Liver abscess as the presenting manifestation of chronic granulomatous disease

Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disease, affecting phagocytic blood cells, which predispose patients to recurrent infectious complications. Herein, an 11-year-old girl is described who presented with liver abscess at the age of 9 years. Positive dihydrorhodamine (DHR) and nitrobluetetrazolium (NBT) tests confirmed the diagnosis of CGD for the patient. Anti-tuberculosis drugs and parenteral antibiotic therapy were started. Unusual visceral abscess and recurrent infections should be considered as an alarm for primary immunodeficiency diseases, while early diagnosis and appropriate treatment could prevent severe complications and even death in this group of patients.     

Management of intractable hiccup.

A patient who developed hiccups after laparotomy was treated with numerous drugs with limited success. A left phrenic nerve crush was eventually successful. A review of published work showed that the drugs most likely to succeed were chlorpromazine and metoclopramide, and that phrenic nerve injection and crush should be considered if these failed.     

Vildagliptin-Induced Acute Pancreatitis

ObjectiveTo describe the first reported case of acute pancreatitis in a patient receiving vildagliptin.MethodsWe present the clinical, biochemical, and radiographic findings of the study patient.ResultsA 61-year-old woman who presented with severe abdominal pain was found to have acute pancreatitis. This occurred 5 weeks after the commencement of vildagliptin, a dipeptidyl-peptidase 4 inhibitor, for the treatment of type 2 diabetes mellitus. The patient’s pancreatic enzymes were elevated (amylase, 1205 U/L; lipase, 8846 U/L), and abdominal computed tomography demonstrated diffuse pancreatic swelling, cyst formation, and necrosis in the body of the pancreas. In the absence of an identifiable cause for the patient’s pancreatitis, vildagliptin was considered a potential trigger. The patient recovered after vildagliptin therapy was ceased.ConclusionsAlthough incretin-based therapy effectively treats type 2 diabetes mellitus, emerging reports of acute pancreatitis in patients receiving sitagliptin and exenatide have prompted the US Food and Drug Administration to issue an alert on these drugs. This appears to be the first reported case of acute pancreatitis in a patient receiving vildagliptin, and it supports the possibility that acute pancreatitis may be a rare effect of incretin-based therapy.(Endocr Pract. 2011;17:e48-e50)     

Métastase méningée révélatrice de cancer thyroïdien multimétastatique

We report the case of a 74-year-old patient who presented with cognitive disorders. Morphological imaging showed a tumor which was considered as a meningioma. Surgical resection of this tumor was performed and pathology indicated a meningeal metastasis of a thyroid cancer. The patient had previously a thyroidectomy with an initial benign pathology report. Meningeal metastases of thyroid cancer are rare, and a meningeal metastasis revealing a thyroid cancer is very rare.     

Reversal of aplastic anaemia secondary to systemic lupus erythematosus by high-dose intravenous cyclophosphamide

Aplastic anaemia is rare as a primary feature of systemic lupus erythematosus and is more commonly a complication of treatment with cytotoxic drugs. Three years after starting treatment for systemic lupus erythematosus a 22-year-old woman developed bone-marrow depression. Azathioprine was thought to be responsible and was withdrawn. The aplastic anaemia worsened despite treatment with prednisolone. In view of clinical and serological evidence of lupus disease activity the patient was given high-dose intravenous cyclophosphamide and the aplastic anaemia responded in a sustained manner.In such cases of continued disease activity high-dose immunosuppressive agents may prove effective.     

Anesthesia for outpatient female sterilization

This issue of the Bulletin deals with the principles of anesthesia for outpatient female sterilization with emphasis on techniques for laparoscopy and minilaparotomy. General anesthesia techniques provide analgesia, amnesia, and muscle relaxation and are particularly useful for managing the anxious patient. Disadvantages include increased expense, need for specialized equipment, and highly trained personnel, and delayed recovery. Complications, though relatively rare, can be life-threatening and include aspiration of stomach contents, hypoxia, hypercarbia, hypotension, hypertension, cardiac arrhythmias, cardiorespiratory arrest, and death. There is no single preferred technique of general anesthesia, athough most anesthetists employ methods that allow rapid recovery of faculties, enabling the patient to be discharged soon after surgery. To accomplish this end, light anesthesia with sodium thiopental induction and nitrous oxide maintenance is often used. Short duration muscle relaxation with an agent such as succinylcholine supplements this technique. Other techniques include light anesthesia with inhalational anesthetic agents and the use of intravenous ketamine. Local anesthesia augmented by systemic and/or inhalational analgesia is supplanting general anesthesia techniques for laparoscopy in many locales. This approach is also particularly well-suited for minilaparotomy in developing countries, where it has achieved its greatest popularity. The local technique carries with it reduced morbidity and mortality but may not entirely relieve discomfort. The primary danger of local anesthesia is respiratory depression due to excessive narcosis and sedation. The operator must be alert to the action of the drugs and should always use the minimal effective dose. Although toxicity due to overdosage with local anesthetic drugs is occasionally experienced, allergic reactions to the amide-linkage drugs such as lidocaine or bupivacaine are exceedingly rare. For outpatient laparoscopy or minilaparotomy, local anesthesia with proper preoperative counselling and premedication should provide adequate relief of pain and is the method of choice, unless the patient cannot be examined awake or is totally uncooperative. The decision to utilize either general or local anesthesia should be made by the patient after thorough counselling by the surgical team. In many cases, the circumstances of the surgical environment will dictate the choice, but patient comfort and safety should always be the goal.     

Takotsubo cardiomyopathy complicated by cardiac tamponade

We describe a 76-year-old patient with takotsubo cardiomyopathy complicated by cardiac tamponade. Pericardial effusion in takotsubo cardiomyopthy is common but a cardiac tamponade is very rare. The use of anticoagulants may increase the risk of pericardial effusion and should be considered with care.     

Intraosseous vascular malformations of the orbit

Intraosseous vascular malformations are rare benign tumors involving the bones of the orbit. The diagnosis should be considered when a patient presents with an enlarging mass fixed to bone in the upper face, and the characteristic x-ray appearance should be looked for on plain films. Treatment is local excision of the bone containing the tumor and immediate reconstruction with autogenous bone.     

Orphanet – das europäische Portal für seltene Krankheiten

Orphanet is a relational database of rare diseases and orphan drugs. This internet-based information platform was established jointly by the French Ministry of Health and the French National Institute of Health and Medical Research (INSERM) in 1997. Since 2000 Orphanet progressed as a European project. The concept was to provide all stakeholders with compiled information on rare diseases through a directory of expert services. This directory of services provides information on specialised outpatient clinics, clinical laboratories, research projects, registries, clinical trials and patient organisations from currently 38 countries. The Services are directly associated with the inventory of rare diseases; furthermore, a comprehensive encyclopaedia is available. All information is freely accessible in five languages at the website http://www.orpha.net.     

Primary Kaposi's sarcoma of an intraparotid lymph node with AIDS

A case of Kaposi's sarcoma of an intraparotid lymph node in a patient with previously undiagnosed AIDS is presented. In patients at risk for AIDS who present with undiagnosed head and neck tumors, the diagnosis of epidemic Kaposi's sarcoma should be considered. Although transmission of AIDS to health care workers is exceedingly rare, proper precautions should be exercised when working with these patients.     

Access to Orphan Drugs: A Comprehensive Review of Legislations,Regulations and Policies in 35 Countries

ObjectiveTo review existing regulations and policies utilised by countries to enable patient access to orphan drugs.MethodsA review of the literature (1998 to 2014) was performed to identify relevant, peer-reviewed articles. Using content analysis, we synthesised regulations and policies for access to orphan drugs by type and by country.ResultsFifty seven articles and 35 countries were included in this review. Six broad categories of regulation and policy instruments were identified: national orphan drug policies, orphan drug designation, marketing authorization, incentives, marketing exclusivity, and pricing and reimbursement. The availability of orphan drugs depends on individual country’s legislation and regulations including national orphan drug policies, orphan drug designation, marketing authorization, marketing exclusivity and incentives such as tax credits to ensure research, development and marketing. The majority of countries (27/35) had in place orphan drug legislation. Access to orphan drugs depends on individual country’s pricing and reimbursement policies, which varied widely between countries. High prices and insufficient evidence often limit orphan drugs from meeting the traditional health technology assessment criteria, especially cost-effectiveness, which may influence access.ConclusionsOverall many countries have implemented a combination of legislations, regulations and policies for orphan drugs in the last two decades. While these may enable the availability and access to orphan drugs, there are critical differences between countries in terms of range and types of legislations, regulations and policies implemented. Importantly, China and India, two of the largest countries by population size, both lack national legislation for orphan medicines and rare diseases, which could have substantial negative impacts on their patient populations with rare diseases.     

各国孤儿药政策对比分析

据统计，医学上明确诊断的罕见病有5 000~8 000 种。虽然因患病人数少而得名罕见病，但考虑到疾病种类之多，罕见病仍是 各国不可忽视的公共卫生挑战。协助和激励医疗行业开发治疗罕见病的孤儿药，是各国政府一项重要的公共卫生政策。重点介绍了美国、 日本和欧盟的孤儿药立法，激励政策以及对病患、医药行业的积极影响。     

Drug-induced aseptic meningitis, sensorineural hearing loss and vestibulopaty

We report clinically rare and serious adverse reactions that occurred after the co-administration of ranitidine, ibuprofen and ciprofloxacin: completely reversible aseptic meningitis and irreversible bilateral sensorineural hearing loss, tinnitus, and vestibulopathy. Recurrent urinary inflammations treated with antibacterials, classic familial migraine, and allergy to trimethoprim-sulfamethoxazole and chromium were favourable predisposing factors for the adverse event in this patient. A close chronological relation between administration of drugs (especially ibuprofen) and adverse reactions was noted. No evidence of infection and/or autoimmune disease was found. The mechanism of these serious events may be explained as a hypersensitive reaction affecting the meninges and, partially, cochlea.     

A rare association of hyperparathyroidism and Turner's syndrome--a case report

We present the clinical, laboratory, radiological and pathological findings in the case and review the literature. Our patient, a 37-year-old woman of short stature, was referred because of musculoskeletal pain. After primary evaluation, she underwent treatment with calcium and vitamin D supplement with the diagnosis of osteomalacia in Turner's syndrome. The rise of serum calcium during medical therapy, which was an unusual finding, attracted the clinician's attention to another underlying disorder. Further evaluation revealed primary hyperparathyroidism due to an adenoma of the parathyroid gland. Even though this is a rare diagnosis, its presence should be considered in any patient with Turner's syndrome presenting with severe osteoporosis and a rise in serum calcium during treatment.