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Zerrin Demirtürk, Evren Şentürk, Abbas Köse, Perihan Ergin Özcan, Lütfi Telci
BACKGROUND: Biotinidase deficiency (BD) is a rare, inherited autosomal recessive disorder that is treatable within childhood. We present a patient with pneumonia and respiratory acidosis who was not diagnosed with any systemic disorders; the patient was finally diagnosed as BD. CASE REPORT: A thirty-year-old woman was admitted to the emergency department with respiratory failure that had persisted for a few days and progressively weakening over the previous six months...
September 2016: Balkan Medical Journal
Takamasa Tanaka, Norihiko Terada, Yoshiki Fujikawa, Takushi Fujimoto
Isolated adrenocorticotropic hormone deficiency (IAD) is a rare disorder with diverse clinical presentations. A 79-year-old man was bedridden for six months due to flexion contractures of the bilateral hips and knees, along with hyponatremia. He was diagnosed with IAD based on the results of endocrine tests. After one month of corticosteroid replacement, he recovered and was able to stand up by himself. Although flexion contracture is a rare symptom of IAD, steroid replacement therapy may be effective, even for seemingly irreversibly bedridden elderly patients...
2016: Internal Medicine
Sarman Singh
Toxoplasmosis is caused by a coccidian parasite, Toxoplasma gondii. The parasite is highly prevalent both in humans and in warm-blooded animals. Cat family animals are definitive host, and these animals excrete the infective oocysts in their feces. Humans, though not definitive host, get infection by consuming water or food contaminated with cat feces. Rarely, infection can also take place through transfusing the infected blood, through transplantation of infected organs, or transplacentally from infected mother to fetus...
July 2016: Tropical Parasitology
Osamu Imataki, Makiko Uemura
BACKGROUND: The recent study described a better outcome in acute promyelocytic leukemia patients treated with all-trans retinoic acid and arsenic oxide compared to those treated with all-trans retinoic acid combined with conventional chemotherapy. The pivotal study indicated that favorable-risk acute promyelocytic leukemia patients can be cured without any cytotoxic chemotherapy. Even high-risk patients are treatable with cytotoxic agents. Acute promyelocytic leukemia does not develop only by the dedifferentiation caused by PML-RARA...
2016: BMC Clinical Pathology
Jonathan P Riley, Andrew B Boucher, Denise S Kim, Daniel L Barrow, Matthew R Reynolds
BACKGROUND: Transorbital intracranial penetrating trauma (TIPT) with a retained intracranial foreign body is a rare event lacking a widely-accepted diagnostic and therapeutic algorithm. Intraoperative catheter angiography (IOA) has been advocated by some authorities to rule out cerebrovascular injury prior and/or subsequent to removal of the object, but no standard of care currently exists. CASE DESCRIPTION: A 19-year-old male was involved in a construction site accident whereby a framing nail penetrated the left globe, traversed the lateral bony orbit, and terminated in the mid-temporal lobe...
September 28, 2016: World Neurosurgery
Melanie A McNally, Julia Johnson, Thierry A Huisman, Andrea Poretti, Kristin W Baranano, Ahmet A Baschat, Carl E Stafstrom
BACKGROUND: SCN8A mutations are rare and cause a phenotypically heterogeneous early onset epilepsy known as early infantile epileptic encephalopathy type 13 (EIEE13, OMIM #614558). There are currently no clear genotype-phenotype correlations to help guide patient counseling and management. PATIENT DESCRIPTION: We describe a patient with EIEE13 (de novo heterozygous pathogenic mutation in SCN8A - p.Ile240Val (ATT>GTT)) who presented prenatally with maternally reported intermittent, rhythmic movements that, when observed on ultrasound, were concerning for fetal seizures...
August 16, 2016: Pediatric Neurology
Iliyana Pacheva, Ivan Ivanov, Marin Penkov, Daliya Kancheva, Albena Jordanova, Mariya Ivanova
A case with GAMT deficiency (homozygous c.64dupG mutation) presented with neurodevelopmental delay, rare seizures, behavioral disturbances, and mild hypotonia, posing diagnostic challenges. Metabolic investigations showed low creatinine in plasma and urine (guanidinoacetate couldn't be investigated) and slightly elevated lactate. MRI was normal. Correct diagnosis was possible only after MR spectroscopy was performed at age 5½ years. A homozygous c.64dupG mutation of the GAMT gene was identified in the proband...
September 2016: Annals of Clinical and Laboratory Science
Mei Chin Lim, Niketa Chandrakant Chotai, Danilo Medina Giron
We present a case of a previously healthy 50-year-old gentleman who had recurrent vomiting and abdominal pain of two-month duration. The patient was subsequently diagnosed with abdominal cocoon on computed tomography. Idiopathic sclerosing encapsulating peritonitis, also known as abdominal cocoon, is a rare cause of small bowel obstruction. Visualization of variable encasement of the small bowel loops by a characteristic membranous sac, either preoperatively with cross-sectional imaging or intraoperatively, is the key to diagnosis...
2016: Case Reports in Medicine
Paulo Victor Sgobbi de Souza, Thiago Bortholin, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira
No abstract text is available yet for this article.
September 13, 2016: Neurology
Guangxin Duan, Jiaping Xu, Jijun Shi, Yongjun Cao
Bow hunter's syndrome (BHS), also known as rotational vertebral artery (VA) occlusion syndrome, is a rare yet treatable type of symptomatic vertebrobasilar insufficiency resulting from mechanical occlusion or stenosis of the VA during head and neck rotation or extension. The symptoms of BHS range from transient vertigo to posterior circulation stroke. The underlying pathology is dynamic stenosis or compression of the VA by abnormal bony structures with neck rotation or extension in many cases, such as osteophyte, disc herniation, cervical spondylosis, tendinous bands or tumors...
June 2016: Interventional Neurology
Jasbir Makker, Bharat Bajantri, Sailaja Sakam, Sridhar Chilimuri
Involvement of gastrointestinal tract by cytomegalovirus (CMV) is common. CMV infections mainly run their course without any clinical signs in immunocompetent hosts. In contrast, CMV can cause severe infections with serious consequences in a immunocompromised state typically associated with organ transplants, highly immunosuppressive cancer chemotherapy, advanced HIV infection or treatment with corticosteroids. The incidence and severity of these manifestations of CMV is directly proportional with the degree of cellular immune dysfunction, i...
August 21, 2016: World Journal of Gastroenterology: WJG
Stéphane Mathis, Gaëlle Godenèche, Julien Haroche, Serge Milin, Adrien Julian, Aline Berthomet, Clément Baron, Paola Palazzo, Jean-Philippe Neau
BACKGROUND: Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis. This inflammatory myeloid neoplasm is frequently complicated by neurological symptoms, but stroke is an exceptional manifestation of this disease. METHODS: We report the case of a 59-year-old woman who presented a vertebrobasilar stroke secondary to infiltration and severe stenosis of the basilar artery, improved after interferon-alpha therapy. We performed a review of the relevant literature and reported the few other cases described...
September 2016: Medicine (Baltimore)
Shivani Deswal, Sunita Bijarnia-Mahay, Vinamr Manocha, Keiichi Hara, Yosuke Shigematsu, Renu Saxena, Ishwar C Verma
Systemic primary carnitine deficiency (CDSP) is a rare autosomal recessive disorder caused by a defect in plasma membrane uptake of carnitine due to SLC22A5 gene mutations. A nine-mo-old boy presented with hypertrophic cardiomyopathy, massive hepatomegaly and jaundice. Metabolic testing revealed very low free carnitine levels. Genetic analysis using Sanger sequencing method revealed compound heterozygous mutations in SLC22A5 gene, c. 1354 G > A (p. Glu452Lys, previously reported) and c.231_234del (novel frame-shift)...
September 1, 2016: Indian Journal of Pediatrics
Ismaeel Aghaways, Shyaw M Ahmed
BACKGROUND: Ipsilateral renal agenesis associated with seminal vesicular cysts is an uncommon finding. Zinner syndrome is a rare variant of wolffian duct anomalies with a triad of seminal vesicle cyst, ipsilateral renal agenesis, and male fertility problems due to ejaculatory duct obstruction (EDO). CASE PRESENTATION: A 28-year-old man with 6 years history of primary infertility presented with left-side lower abdominal pain. A palpable cystic mass was found on digital rectal examination...
2016: J Endourol Case Rep
Doval Nimisha, Batra Dhruv, Moun Vikas, Jha K Sneh, Shukla Rakesh
Therapeutic outcome of Wilson's disease significantly depends upon its early recognition. As Wilson's disease is a rare disorder with protean manifestations, its diagnosis and subsequent treatment are often delayed. We elaborate here the case of a young boy who had initially presented with psychiatrc symptoms suggestive of dissociative fugue followed by withdrawn behaviour and was treated by a psychiatrist with minimal response. This was associated with symptoms of tremors, hypersalivation, and slowness of movements...
July 2016: Indian Journal of Psychological Medicine
A Kuiper, H Eggink, M A J Tijssen, T J de Koning
A broad range of rare inherited metabolic disorders can present with dystonia. For clinicians, it is important to recognize dystonic features, but it can be complicated by the mixed and complex clinical picture seen in many neurometabolic patients. Careful phenotyping is the first step towards the diagnosis of the underlying condition and subsequent targeted treatment, further supported by imaging, biochemical diagnostics and the availability of modern diagnostic techniques such as next generation sequencing...
August 2016: Revue Neurologique
B G A Rathnamali, G Samarajiwa, D D K Abeyratne, G N D Perera, S B Gunatilake
BACKGROUND: Plate developer is a chemical used in the printing industry and is a corrosive alkaline agent containing sodium metasilicate as the main substance. Plate developer poisoning is rare. Literature search revealed only a single case report of fatal sodium metasilicate poisoning (Z Rechtsmed 94(3):245-250, 1985). There are no reports of acute kidney injury related to ingestion of sodium metasilicate containing substances. CASE REPORT: A 52-year-old Sri Lankan male with a history of hypertension and affective disorder presented following ingestion of about 150 ml of plate developer solution...
2016: BMC Research Notes
Francesco Biraschi, Francesco Diana, Francesco Alesini, Giulio Guidetti, Simone Peschillo
A 75-year-old man with hypertension and atrial fibrillation was admitted to our emergency room with right-sided hemiplegia and complete aphasia (National Institutes of Health Stroke Scale [NIHSS] score = 18). A noncontrast computed tomography scan showed a slight hypodensity in the left insular region and a bright hyperdense sign in the M1 tract of the left middle cerebral artery (MCA). Angio-CT confirmed an occlusion of the M1 tract of the MCA. Magnetic resonance diffusion-weighted imaging/perfusion-weighted imaging was obtained and revealed a mismatch in the left parietal cortical region...
October 2016: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
Mahdi Alsaleem, Lina Saadeh, Amrit Misra, Shailender Madani
Isolated ACTH deficiency (IAD) is a rare cause of neonatal cholestasis and hypoglycaemia. This diagnosis has a 20% mortality potential if unrecognised. We describe a case of an infant presenting with cholestatic jaundice and hypoglycaemia. The patient had laboratory findings suggestive of IAD, which was later confirmed with molecular genetic testing. One of the mutations this patient had is a new finding. The patient was started on glucocorticoid replacement therapy after which his bilirubin and glucose levels normalised...
2016: BMJ Case Reports
Michael Stowasser, Richard D Gordon
In the 60 years that have passed since the discovery of the mineralocorticoid hormone aldosterone, much has been learned about its synthesis (both adrenal and extra-adrenal), regulation (by renin-angiotensin II, potassium, adrenocorticotrophin, and other factors), and effects (on both epithelial and nonepithelial tissues). Once thought to be rare, primary aldosteronism (PA, in which aldosterone secretion by the adrenal is excessive and autonomous of its principal regulator, angiotensin II) is now known to be the most common specifically treatable and potentially curable form of hypertension, with most patients lacking the clinical feature of hypokalemia, the presence of which was previously considered to be necessary to warrant further efforts towards confirming a diagnosis of PA...
October 2016: Physiological Reviews
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