Pulmonary malignant granular cell tumor

Background  

Malignant granular cell tumor (MGCT) is a rare disease entity. Forty-one well-documented MGCTs have been reported in the world literature.     

Moyamoya disease: A clinical spectrum, literature review and case series from a tertiary care hospital in Pakistan

Background  

Moyamoya is a rare cerebrovascular disease of unknown etiology. The data on moyamoya disease from Pakistan is sparse. We report a case series of 13 patients who presented with moyamoya disease to a tertiary care hospital in Pakistan with a national referral base.     

2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese Family with Cerebrotendinous Xanthomatosis

Background  

Cerebrotendinous xanthomatosis (CTX) is a rare lipid-storage disease. We investigated the clinic manifestation, histopathology and sterol 27-hydroxylase gene (CYP27A1) in a Chinese family with Cerebrotendinous Xanthomatosis (CTX).     

Ectopic paraesophageal mediastinal parathyroid adenoma,a rare cause of acute pancreatitis

Background  

The manifestation of primary hyperparathyroidism with acute pancreatitis is a rare event. Ectopic paraesophageal parathyroid adenomas account for about 5%–10% of primary hyperparathyroidism and surgical resection results in cure of the disease.     

Dopamine Agonists and their risk to induce psychotic episodes in Parkinson's disease: a case-control study

Background  

Psychosis is rare in untreated patients with Parkinson's disease (PD) but the prevalence rises to 40% during dopaminergic treatment. So far, no systematic comparison of the psychogenic potential of different dopaminergic drugs had been performed.     

Can health care databases be used to identify incident cases of osteonecrosis?

Introduction  

Osteonecrosis (ON) is a rare disease associated with alcohol and glucocorticoid use. Identifying additional risk factors is difficult as the number of cases at any single center is small. We investigated whether data available in large health care databases can be used to identify incident ON cases.     

Computer aided analysis of additional chromosome aberrations in Philadelphia chromosome positive acute lymphoblastic leukaemia using a simplified computer readable cytogenetic notation

Background  

The analysis of complex cytogenetic databases of distinct leukaemia entities may help to detect rare recurring chromosome aberrations, minimal common regions of gains and losses, and also hot spots of genomic rearrangements. The patterns of the karyotype alterations may provide insights into the genetic pathways of disease progression.     

CCRaVAT and QuTie - enabling analysis of rare variants in large-scale case control and quantitative trait association studies

Background  

Genome-wide association studies have been successful in finding common variants influencing common traits. However, these associations only account for a fraction of trait heritability. There has been a shift in the field towards studying low frequency and rare variants, which are now widely recognised as putative complex trait determinants. Despite this increasing focus on examining the role of low frequency and rare variants in complex disease susceptibility, there is a lack of user-friendly analytical packages implementing powerful association tests for the analysis of rare variants.     

Neuromuscular abnormality and autonomic dysfunction in patients with cerebrotendinous xanthomatosis

Background  

Cerebrotendinous xanthomatosis (CTX) is a rare lipid-storage disease. Neuromuscular abnormality and autonomic system (ANS) dysfuction in CTX are rarely examined in large-scale studies in the literature. We studied the peripheral nervous system, myopathology, and autonomic system of four CTX patients and performed a literature review of the reported CTX patients with peripheral neuropathy.     

Usefulness of multimodal MR imaging in the differential diagnosis of HaNDL and acute ischemic stroke

Background  

Syndrome of transient Headache and Neurological Deficits with cerebrospinal fluid Lymphocitosis (HaNDL) is a rare disease which can present with focal neurological deficits and mimic stroke. A neurologist-on-duty faced with a HaNDL patient in the first hours might erroneously decide to use thrombolytic drugs, a non-innocuous treatment which has no therapeutic effect on this syndrome.     

Cortical recovery of swallowing function in wound botulism

Background  

Botulism is a rare disease caused by intoxication leading to muscle weakness and rapidly progressive dysphagia. With adequate therapy signs of recovery can be observed within several days. In the last few years, brain imaging studies carried out in healthy subjects showed activation of the sensorimotor cortex and the insula during volitional swallowing. However, little is known about cortical changes and compensation mechanisms accompanying swallowing pathology.     

Adult-onset Alexander disease with typical "tadpole" brainstem atrophy and unusual bilateral basal ganglia involvement: a case report and review of the literature

Background  

Alexander disease (ALX) is a rare neurological disorder characterized by white matter degeneration and cytoplasmic inclusions in astrocytes called Rosenthal fibers, labeled by antibodies against glial fibrillary acidic protein (GFAP). Three subtypes are distinguished according to age at onset: infantile (under age 2), juvenile (age 2 to 12) and adult (over age 12). Following the identification of heterozygous mutations in GFAP that cause this disease, cases of adult-onset ALX have been increasingly reported.     

Limb-shaking transient ischemic attacks: case report and review of literature

Background  

Limb shaking Transient Ischemic Attack is a rare manifestation of carotid-occlusive disease. The symptoms usually point towards a seizure like activity and misdiagnosed as focal seizures. On careful history the rhythmic seizure like activity reveals no Jacksonian march mainly precipitated by maneuvers which lead to carotid compression. We here present a case of an elderly gentleman who was initially worked up as suffering from epileptic discharge and then later on found to have carotid occlusion.     

Bilateral metastasis to the femoral head as the only manifestation of recurrence of gastric adenocarcinoma: a case report

Background  

Metastases to the bone as the sole manifestation of recurrence of a gastric carcinoma are extremely rare.     

Sporadic fatal insomnia in a young woman: A diagnostic challenge: Case Report

Background  

Sporadic fatal insomnia (sFI) and fatal familial insomnia (FFI) are rare human prion diseases.     

Cardiac Tamponade Secondary to Metastasis from Adenocarcinoma of the Parotid Gland

Background  

Metastatic involvement of pericardium producing cardiac tamponade is rare. When occurs it is mainly from the lung, breast and the neoplasms of the lymphoreticular system. Hematogenous spread of parotid adenocarcinoma to heart is extremely rare and only two cases have been reported in literature so far.     

Pleomorphic adenoma of minor salivary gland in the parapharyngeal space

Background  

Majority of tumours occurring in minor salivary gland are malignant. Pleomorphic adenoma is of rare occurrence in parapharangeal space.     

Penile metastasis of prostatic adenocarcinoma: Report of two cases and review of literature

Background  

Carcinoma of the prostate metastasising to the penis is rare. These patients have a poor prognosis receiving various treatment modalities.     

Upper limbs dysmetria caused by cervical spinal cord injury: a case report

Background  

Upper limbs dysmetria caused by spinal cord injury is very rare. We will discuss the associated mechanism in our articles.     

Exome sequencing identifies a novel missense variant in <Emphasis Type="Italic">RRM2B</Emphasis> associated with autosomal recessive progressive external ophthalmoplegia

Background  

Whole-exome sequencing using next-generation technologies has been previously demonstrated to be able to detect rare disease-causing variants. Progressive external ophthalmoplegia (PEO) is an inherited mitochondrial disease that follows either autosomal dominant or recessive forms of inheritance (adPEO or arPEO). AdPEO is a genetically heterogeneous disease and several genes, including POLG1 and C10orf2/Twinkle, have been identified as responsible genes. On the other hand, POLG1 was the only established gene causing arPEO with mitochondrial DNA deletions. We previously reported a case of PEO with unidentified genetic etiology. The patient was born of a first-cousin marriage. Therefore, the recessive form of inheritance was suspected.