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Luc V C Brun, Jean Jacques Roux, Ghislain E Sopoh, Julia Aguiar, Miriam Eddyani, Wayne M Meyers, Dirk Stubbe, Marie T Akele Akpo, Françoise Portaels, Bouke C de Jong
Background: Basidiobolomycosis is a rare subcutaneous mycosis, which can be mistaken for several other diseases, such as soft tissue tumors, lymphoma, or Buruli ulcer in the preulcerative stage. Microbiological confirmation by PCR for Basidiobolus ranarum and culture yield the most specific diagnosis, yet they are not widely available in endemic areas and with varying sensitivity. A combination of histopathological findings, namely, granulomatous inflammation with giant cells, septate hyphal fragments, and the Splendore-Hoeppli phenomenon, can confirm basidiobolomycosis in patients presenting with painless, hard induration of soft tissue...
2018: Case Reports in Pathology
Wouter I Schievink, M Marcel Maya, Zachary R Barnard, Franklin G Moser, Stacey Jean-Pierre, Alan D Waxman, Miriam Nuño
BACKGROUND: Behavioral variant frontotemporal dementia (bvFTD) is a devastating early onset dementia. Symptoms of bvFTD may be caused by spontaneous intracranial hypotension (SIH), a treatable disorder, but no comprehensive study of such patients has been reported. OBJECTIVE: To describe detailed characteristics of a large cohort of patients with SIH and symptoms of bvFTD. METHODS: We identified patients with SIH who met clinical criteria for bvFTD...
March 8, 2018: Operative Neurosurgery (Hagerstown, Md.)
Ahmed Abushahin, Abdulla Zarroug, Magda Wagdi, Ibrahim Janahi
Wheezing and cough are common case scenarios that pediatricians encountered in their office practices. Although a bronchogenic cyst is an uncommon condition, it is essential to be considered in the differential diagnosis of a chronic cough and wheezing among young children who fail to respond to appropriate medical treatment. A 28-month-old girl was referred to our pediatric pulmonology clinic with persistent symptoms of a cough and wheeze unresponsive to standard asthma therapy. This presentation prompted us to undertake a detailed diagnostic evaluation...
2018: Case Reports in Pediatrics
J Steiner, H Prüß, S Köhler, A Hasan, P Falkai
Despite intensive research, a precise cause of schizophrenic and schizoaffective disorders has not yet been identified. Therefore, psychiatric diagnoses are still made based on clinical ICD-10/DSM‑5 criteria and not on any objective markers; however, various causes or pathophysiological processes may ultimately lead to similar symptoms. An important task for the future of psychiatry is to identify disease subtypes with a distinct pathophysiology to develop more specific and causally acting therapies. A new diagnostic entity has become established in clinical neurology and psychiatry in recent years: autoimmune encephalitis with psychotic symptoms caused by specific antineuronal antibodies has been identified as a rare but potentially treatable cause of psychotic disorders; however, these inflammatory brain diseases are not reliably detected by routine psychiatric diagnostics...
March 9, 2018: Der Nervenarzt
Turgut Tatlisumak, Brett Cucchiara, Satoshi Kuroda, Scott E Kasner, Jukka Putaala
Nontraumatic intracerebral haemorrhage (ICH) is a common subtype of stroke with a poor prognosis, high mortality and long-term morbidity. The incidence of ICH increases with age. ICH has not been widely investigated in young adults (herein defined as aged ∼18-50 years) despite an annual incidence of ∼5 per 100,000 individuals. Furthermore, ICH characteristics differ between young and elderly patients. Risk factors for ICH are surprisingly common in young adults, in whom ICH is often caused by structural lesions or hypertension, and only rarely by anticoagulation therapy and cerebral amyloid angiopathy (which are common predisposing factors in elderly patients)...
March 9, 2018: Nature Reviews. Neurology
Soumya Surath Panda, Manas Baisakh, Adyakinkar Panda, Hemlata Das
Primary hepatic lymphoma (PHL) is an extremely rare disease and is often misdiagnosed. The optimal therapy is still unclear and the outcomes are uncertain. Among PHLs, a primary hepatic low-grade marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue is still rarer. The present study reports the case of an elderly female diagnosed with PHL (mucosa-associated lymphoid tissue) and treated with single agent rituximab. After 18 months, she had a progressive disease and developed Waldenstorms macroglobulinemia concomitantly...
January 8, 2018: Current Problems in Cancer
Brittani Jones, Allyson C Berent, Chick W Weisse, Robert Hart, Leilani Alvarez, Anthony Fischetti, B David Horn, Douglas Canning
CASE DESCRIPTION A 14-week-old 7.7-kg (16.9-lb) sexually intact female Golden Retriever was evaluated because of urine dripping from the caudoventral aspect of the abdomen. CLINICAL FINDINGS Ultrasonography, radiography, excretory CT urography, and vaginocystourethroscopy were performed. Results indicated eversion of the bladder through the ventral abdominal wall with exposure of the ureterovesicular junctions, pubic diastasis, and an open vulva and clitoral fossa. Clinical findings were suggestive of bladder exstrophy, a rare congenital anomaly...
March 15, 2018: Journal of the American Veterinary Medical Association
Michel Tchan
The adult endocrinologist may be asked to consult on a patient for unexplained biochemical disturbances that could be caused by an underlying inborn error of metabolism. A genetic disorder is generally less likely to be the cause as these disorders are individually rare, however inborn errors of metabolism are collectively not infrequent and important to consider as they may be treatable and tragic outcomes avoided. Hyperammonemia or lactic acidosis are most often secondary markers of an acquired primary disease process, but they may be a clue to the presence of a genetic disorder...
March 1, 2018: Reviews in Endocrine & Metabolic Disorders
Kiyobumi Ota, Sayo Koseki, Kenji Ikegami, Iichiroh Onishi, Hiyoryuki Tomimitsu, Shuzo Shintani
75 years old woman presented with 6-month history of progressive dropped head syndrome. Neurological examination revealed moderate weakness of flexor and extensor of neck and mild weakness of proximal appendicular muscles with normal deep tendon reflexes. The needle electromyography showed short duration and low amplitude motor unit potential. No fibrillation potentials or positive sharp waves were seen. Biopsy of deltoid muscle was normal. Laboratory studies showed elevated levels of serum calcium (11.8 mg/dl, upper limit of normal 10...
February 28, 2018: Rinshō Shinkeigaku, Clinical Neurology
Gisah Amaral Carvalho, Gilberto Paz-Filho, Cleo Otaviano Mesa Junior, Hans Graf
Hypothyroidism is one of the most common hormone deficiencies in adults. Most of the cases, particularly those of overt hypothyroidism, are easily diagnosed and managed, with excellent outcomes if treated adequately. However, minor alterations of thyroid function determine nonspecific manifestations. Primary hypothyroidism due to chronic autoimmune thyroiditis is largely the most common cause of thyroid hormone deficiency. Central hypothyroidism is a rare and heterogeneous disorder characterized by decreased thyroid hormone secretion by an otherwise normal thyroid gland, due to lack of TSH...
February 28, 2018: European Journal of Endocrinology
Katja Eggermann, Burkhard Gess, Martin Häusler, Joachim Weis, Andreas Hahn, Ingo Kurth
BACKGROUND: Hereditary peripheral neuropathies constitute a large group of genetic diseases, with an overall prevalence of 1:2500. In recent years, the use of so-called next-generation sequencing (NGS) has led to the identification of many previously unknown involved genes and genetic defects that cause neuropathy. In this article, we review the procedures and utility of genetic evaluation for hereditary neurop - athies, while also considering the implications of the fact that causally directed treatment of these disorders is generally unavailable...
February 9, 2018: Deutsches Ärzteblatt International
J Lim, A van Royen-Kerkhof, R E Jonkers, M V Starink, A E Voskuyl, A J van der Kooi
Idiopathic inflammatory myopathy (IIM), commonly referred to as "myositis", is a rare but treatable auto-immune disease that is often misdiagnosed or diagnosed after significant delay. Using three clinical case reports as introductory examples, an overview is given - and pitfalls are discussed - of the diagnosis and treatment of myositis. Disease features are often extra-muscular in nature, may vary considerably between patients, and are frequently non-specific. Myositis-related morbidity is high and myositis can be fatal, mainly due to cancer and interstitial lung disease...
2018: Nederlands Tijdschrift Voor Geneeskunde
Ricardo Soares-Dos-Reis, Ana Inês Martins, Ana Brás, Anabela Matos, Conceição Bento, João Lemos
Ocular neuromyotonia is a rare, albeit treatable, ocular motor disorder, characterised by recurrent brief episodes of diplopia due to tonic extraocular muscle contraction. Ephaptic transmission in a chronically damaged ocular motor nerve is the possible underlying mechanism. It usually improves with carbamazepine. A 53-year-old woman presented with a 4-month history of recurrent episodes of binocular vertical diplopia (up to 40/day), either spontaneously or after sustained downward gaze. Between episodes she had a mild left fourth nerve palsy...
February 21, 2018: Practical Neurology
Ashok Kumar Sokhal, Gaurav Prakash, Durgesh Kumar Saini, Kawaljit Singh, Satyanarayan Sankhwar, Bhupendra Pal Singh
The Page kidney is a rare phenomenon. External renal parenchymal compression is the culprit. We report two cases of young males with flank pain, renal mass, and hypertension with history of blunt abdominal trauma. Initially, hypertension was controlled by angiotensin-converting enzyme (ACE) inhibitors but gradually became refractory to medical treatment. Laparoscopic nephrectomy was performed in both patients. We emphasize the Page kidney as a cause of hypertension in young patients, presenting with flank pain and renal mass with or without complications of hypertension...
January 2018: Saudi Journal of Kidney Diseases and Transplantation
Miriam Hadj-Moussa, Dana A Ohl, William M Kuzon
INTRODUCTION: For many patients with gender dysphoria, gender-confirmation surgery (GCS) helps align their physical characteristics with their gender identity and is a fundamental element of comprehensive treatment. This article is the 2nd in a 3-part series about the treatment of gender dysphoria. Non-operative management was covered in part 1. This section begins broadly by reviewing surgical eligibility criteria, benefits of GCS, and factors associated with regret for transgender men and women...
February 14, 2018: Sexual Medicine Reviews
Kellen N Kimani, Scott A Murray, Liz Grant
BACKGROUND: Heart failure is an emerging challenge for Sub Saharan Africa. However, research on patients' needs and experiences of care is scarce with little evidence available to support and develop services. We aimed to explore the experiences of patients living and dying with heart failure in Kenya. METHODS: We purposively recruited 18 patients admitted with advanced heart failure at a rural district hospital in Kenya. We conducted serial in depth interviews with patients at 0, 3 and 6 months after recruitment, and conducted bereavement interviews with carers...
February 17, 2018: BMC Palliative Care
Mina S Makary, Yaz Y Kisanuki, Nessim N Amin, Hasel W Slone
No abstract text is available yet for this article.
February 13, 2018: Neurology
Jennifer M Kwon
PURPOSE OF REVIEW: This article provides an overview of genetic metabolic disorders that can be identified by metabolic tests readily available to neurologists, such as tests for ammonia, plasma amino acids, and urine organic acids. The limitations of these tests are also discussed, as they only screen for a subset of the many inborn errors of metabolism that exist. RECENT FINDINGS: Advances in next-generation sequencing and the emerging use of advanced metabolomic screening have made it possible to diagnose treatable inborn errors of metabolism that are not included in current newborn screening programs...
February 2018: Continuum: Lifelong Learning in Neurology
Michael G Kim, Seung W Jeong, Elena Solli, Anubhav G Amin, Jennifer S Ronecker, Shalabh Bobra
Introduction: A spinal dural arteriovenous fistula is a rare type of vascular malformation. If left untreated, these fistulas can result in significant neurological deficits secondary to spinal cord infarct or hemorrhage. Case presentation: A 70-year-old female with a longstanding history of episodic progressive bilateral lower extremity weakness and sensory disturbances was previously misdiagnosed with multiple sclerosis. Imaging revealed a T2 signal change from T7 to the conus with associated signal change and she subsequently underwent a T10-L1 laminectomy for clip ligation of a spinal dural arteriovenous fistula...
2018: Spinal Cord Series and Cases
Sandra Sousa, Nuno Vasco Costa, Cátia Carmona, Élia Coimbra, Fernando Pita
Introduction: Cryptogenic stroke is present in about 40% of ischemic stroke patients. Extracardiac shunt related to pulmonary arteriovenous fistula (PAVF) could be a rare potential risk factor for embolic stroke. Most PAVFs are multiple, congenital, and associated with hereditary conditions. On the other hand, isolated PAVFs are rare conditions and an uncommon cause of cryptogenic stoke. Case Report: We describe a case of a young woman without history of respiratory diseases or vascular risk factors, who presented with acute onset of transitory aphasia and right hemiplegia...
September 2017: Case Reports in Neurology
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