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The dataset generation failed
Error code: DatasetGenerationError
Exception: ArrowInvalid
Message: Failed to parse string: '?' as a scalar of type int64
Traceback: Traceback (most recent call last):
File "/src/services/worker/.venv/lib/python3.9/site-packages/datasets/builder.py", line 2011, in _prepare_split_single
writer.write_table(table)
File "/src/services/worker/.venv/lib/python3.9/site-packages/datasets/arrow_writer.py", line 585, in write_table
pa_table = table_cast(pa_table, self._schema)
File "/src/services/worker/.venv/lib/python3.9/site-packages/datasets/table.py", line 2302, in table_cast
return cast_table_to_schema(table, schema)
File "/src/services/worker/.venv/lib/python3.9/site-packages/datasets/table.py", line 2261, in cast_table_to_schema
arrays = [cast_array_to_feature(table[name], feature) for name, feature in features.items()]
File "/src/services/worker/.venv/lib/python3.9/site-packages/datasets/table.py", line 2261, in <listcomp>
arrays = [cast_array_to_feature(table[name], feature) for name, feature in features.items()]
File "/src/services/worker/.venv/lib/python3.9/site-packages/datasets/table.py", line 1802, in wrapper
return pa.chunked_array([func(chunk, *args, **kwargs) for chunk in array.chunks])
File "/src/services/worker/.venv/lib/python3.9/site-packages/datasets/table.py", line 1802, in <listcomp>
return pa.chunked_array([func(chunk, *args, **kwargs) for chunk in array.chunks])
File "/src/services/worker/.venv/lib/python3.9/site-packages/datasets/table.py", line 2116, in cast_array_to_feature
return array_cast(
File "/src/services/worker/.venv/lib/python3.9/site-packages/datasets/table.py", line 1804, in wrapper
return func(array, *args, **kwargs)
File "/src/services/worker/.venv/lib/python3.9/site-packages/datasets/table.py", line 1963, in array_cast
return array.cast(pa_type)
File "pyarrow/array.pxi", line 996, in pyarrow.lib.Array.cast
File "/src/services/worker/.venv/lib/python3.9/site-packages/pyarrow/compute.py", line 404, in cast
return call_function("cast", [arr], options, memory_pool)
File "pyarrow/_compute.pyx", line 590, in pyarrow._compute.call_function
File "pyarrow/_compute.pyx", line 385, in pyarrow._compute.Function.call
File "pyarrow/error.pxi", line 154, in pyarrow.lib.pyarrow_internal_check_status
File "pyarrow/error.pxi", line 91, in pyarrow.lib.check_status
pyarrow.lib.ArrowInvalid: Failed to parse string: '?' as a scalar of type int64
The above exception was the direct cause of the following exception:
Traceback (most recent call last):
File "/src/services/worker/src/worker/job_runners/config/parquet_and_info.py", line 1529, in compute_config_parquet_and_info_response
parquet_operations = convert_to_parquet(builder)
File "/src/services/worker/src/worker/job_runners/config/parquet_and_info.py", line 1154, in convert_to_parquet
builder.download_and_prepare(
File "/src/services/worker/.venv/lib/python3.9/site-packages/datasets/builder.py", line 1027, in download_and_prepare
self._download_and_prepare(
File "/src/services/worker/.venv/lib/python3.9/site-packages/datasets/builder.py", line 1122, in _download_and_prepare
self._prepare_split(split_generator, **prepare_split_kwargs)
File "/src/services/worker/.venv/lib/python3.9/site-packages/datasets/builder.py", line 1882, in _prepare_split
for job_id, done, content in self._prepare_split_single(
File "/src/services/worker/.venv/lib/python3.9/site-packages/datasets/builder.py", line 2038, in _prepare_split_single
raise DatasetGenerationError("An error occurred while generating the dataset") from e
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abstract string | label int64 |
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Epidermoid cysts are benign tumors that account for approximately 1% of intracranial tumors. In very rare cases, temporally located extradural intradiploic epidermoid cysts can cause neurological symptoms and skull perforation. Herein, we report the case of a 34-year-old woman who underwent successful treatment of an e... | 0 |
Granulomatous slack skin (GSS) is a rare cutaneous disorder characterized by the evolution of circumscribed erythematous loose skin masses, especially in the body folds, and histologically by a loss of elastic fibers and granulomatous T-cell infiltrates. This disease is often associated with preceding or successive lym... | 0 |
Brown-Séquard syndrome (BSS) is an incomplete spinal cord injury caused by damage to one-half of the spinal cord. Most cases of BSS result from penetrating trauma or tumors, and acute cervical disc herniation is a relatively rare cause of BSS. In this case, a 34-year-old man with a sudden onset posterior neck pain and ... | 0 |
Sclerosing mesenteritis is a rare benign disease presenting with chronic inflammation of the mesenteric adipose tissue and variable degrees of fibrosis. A 47-year-old black man presented to the emergency department with symptoms of small bowel obstruction, requiring surgical treatment. The laparotomy revealed a stenosi... | 0 |
INTRODUCTION:Basaloid follicular hamartoma (BFH) is a rare tumor first described in 1985. It bears clinical and histologic similarities with basal cell carcinoma (BCC), in particular the so-called infundibulocystic form. We performed a single-center clinicopathological study of a series of typical cases of this entity ... | 0 |
We report a 7-year-old boy with infantile spasms caused by a novel mutation in the Aristaless-related homeobox (ARX) gene. He showed infantile spasms and hypsarrhythmia on electroencephalogram from early infancy. Brain MRI did not reveal severe malformation of the brain except mild hypoplasia of the corpus callosum. Tw... | 0 |
Hereditary neuropathies form a heterogeneous group of disorders for which over 40 causal genes have been identified to date. Recently, dominant mutations in the transient receptor potential vanilloid 4 gene were found to be associated with three distinct neuromuscular phenotypes: hereditary motor and sensory neuropathy... | 0 |
Aplasia cutis congenita (ACC) is a rare congenital defect of the skin. In this study we present the diagnosis and management of the condition. In 1997-2009 a total of 65 ACC cases were registered in the Danish National Patient Registry (1:13.000 births). The mortality among these cases was 1.6% (one case) though the de... | 1 |
Twenty-eight lactating dairy cattle in New York State were exposed to botulism toxin; 12 died and 16 recovered but never returned to full productivity. Pieces of a raccoon carcass were found in the total mixed ration on the first day of the outbreak. Clinical signs included anorexia, decreased milk production, decrease... | 0 |
Knobloch syndrome (KS) is typically characterized by high myopia, vitreoretinal degeneration, retinal detachment, and macular abnormalities. We report a case of glaucoma in KS, which represents the fourth reported case and the first description of the retinal events after the glaucoma procedure. Retinal detachment foll... | 0 |
Mucopolysaccharidosis III D (Sanfilippo disease type D, MPS IIID) is a rare autosomal recessive lysosomal storage disorder previously described in only 20 patients. MPS IIID is caused by a deficiency of N-acetylglucosamine-6-sulphate sulphatase (GNS), one of the enzymes required for the degradation of heparan sulphate.... | 0 |
Noonan and LEOPARD syndromes (NS and LS) belong to a group of related disorders called RASopathies characterized by abnormalities of multiple organs and systems including hypertrophic cardiomyopathy and dysmorphic facial features. There are no approved drugs for these two rare diseases, but it is known that a missense ... | 0 |
Cerebral malformations are of fundamental importance in the clinical diagnosis of Aicardi Syndrome (AS). Some of these anomalies like callosal agenesis, cysts formation, posterior fossa anomalies and gross interhemispheric asymmetry are easily observed in the prenatal period with the use of foetal Magnetic Resonance Im... | 0 |
A 68 year old male presented to our Emergency Department with a one-day history of right sided abdominal pain, distention and vomiting on a background of no previous abdominal surgery. Abdominal CT demonstrated a high grade, closed loop small bowel obstruction involving the terminal segment of the ileum. Also of signif... | 0 |
OBJECTIVE:The quality of physician-patient interaction can have a significant impact on medication adherence. Little is known about this relationship in patients with lupus nephritis. METHODS:A cross-sectional, quantitative study. Data collected included demographics, current medication, systemic lupus erythematosus di... | 0 |
AIM:Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare endocrine disorder caused by autosomal recessive variants in GALNT3, FGF23, and KL leading to progressive calcification of soft tissues and subsequent clinical effects. The aim of this was to study the cause of HFTC in an Iranian family. PATIENTS AND ME... | 0 |
Background: Neonatal hemochromatosis (NH) is a cause of neonatal/pediatric acute liver failure. Liver dysfunction/failure in Down syndrome had been described in relation to increased susceptibility to infection and transient myeloproliferative disease (TMD). The occurrence of NH in Down syndrome is described in only a ... | 0 |
Background:Charcot-Marie-Tooth (CMT) disease is the most common neuromuscular disorder in humans affecting 40 out of 100,000 individuals. In 2008, we described the clinical, electrophysiological and pathological findings of a demyelinating motor and sensory neuropathy in Miniature Schnauzer dogs, with a suspected autos... | 0 |
Human African trypanosomiasis (HAT; sleeping sickness) is a disease with truly historic dimensions [...]. | 0 |
Myhre syndrome is a rare multisystem connective tissue disorder, characterized by short stature, facial dysmorphology, variable intellectual disability, skeletal abnormalities, arthropathy, cardiopathy, laryngotracheal anomalies, and stiff skin. So far, all molecularly confirmed cases harbored a de novo heterozygous ga... | 0 |
BACKGROUND:Therapy with sulfonylurea is preferable to insulin in the majority of individuals with KCNJ11 mutations, but not all of these people achieve target levels of HbA1c in long-term follow-up. We aimed to compare sulfonylurea therapy with insulin treatment in two sulfonylurea-sensitive individuals with a KCNJ11 m... | 0 |
BACKGROUND:Tumor protein p63 (TP63)-related disorders can be divided into at least six categories, including ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome 3 (EEC syndrome 3), ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC syndrome), acro-dermo-ungual-lacrimal-tooth syndrome (ADULT syndr... | 0 |
BACKGROUND:Mucopolysaccharidosis type VII (Sly disease, MPS VII), is an ultra-rare, multi-symptom disease with variable clinical presentations which can present challenges with diagnosis, management and care. We believe this survey is the first to explore the patient experience through direct questioning of the caregiv... | 0 |
OBJECTIVE:To explore the genetic basis for a consanguineous pedigree affected with inherited coagulation factor V deficiency. METHODS:Genomic DNA was extracted from peripheral blood samples from the pedigree and subjected to next generation sequencing for screening variants of the F5 gene. Suspected pathogenic variant ... | 0 |
A bezoar is the accumulation of indigestible substances in the gastrointestinal system. Presently described is the case of a 47-year-old male patient who was admitted to the clinic with nausea, vomiting, pain, and abdominal distension. He had a medical history of obsessive-compulsive disorder. He had begun eating soil ... | 0 |
BACKGROUND:Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) is a developmental brain disorder characterized by megalencephaly and bilateral perisylvian polymicrogyria due to defects in genes of the PI3K-AKT pathway. Only a few patients with CCND2 mutations have been reported to date. METHODS:We describe a... | 0 |
Tauopathies are neurodegenerative diseases characterized by the presence of aggregates of abnormally phosphorylated Tau. Deciphering the pathophysiological mechanisms that lead from the alteration of Tau biology to neuronal death depends on the identification of Tau cellular partners. Combining genetic and transcriptom... | 0 |
There is an urgent need for new therapeutic strategies to contain the spread of the novel coronavirus disease 2019 (COVID-19) and to curtail its most severe complications. Severely ill patients experience pathologic manifestations of acute respiratory distress syndrome (ARDS), and clinical reports demonstrate striking ... | 0 |
Patients with Turner syndrome (TS) frequently show short stature and skeletal deformities, such as kyphosis and scoliosis. However, to the best of our knowledge, limb length discrepancy (LLD) has not yet been reported in patients with TS. The case of a 12-yr-old girl with 45,X/47,XXX mosaic TS showing LLD is herein pre... | 0 |
The genetic basis of inflammatory bowel disease remains to be elucidated completely. Here we report on a patient with inflammatory bowel disease who has mosaic tetrasomy of the short arm of chromosome 9, a genomic region that harbours the type I interferon gene cluster. We show that increased interferon activation is p... | 0 |
Purpose:Retinoblastoma and neuroblastoma are the most common malignant extracranial solid tumors in children. This study aimed to summarize the clinical features, especially the delayed diagnosis in children with retinoblastoma and neuroblastoma. Methods:In a single hospital-based case-control study, a retrospective co... | 0 |
The field of primary immunodeficiencies (PIDs) is rapidly evolving. Indeed, the number of described diseases is constantly increasing thanks to the rapid identification of novel genetic defects by next-generation sequencing. PIDs are now rather referred to as "inborn errors of immunity" due to the association between a... | 0 |
Mutations in the Matrin 3 (MATR3) gene have been identified as a cause of amyotrophic lateral sclerosis (ALS) or vocal cord and pharyngeal weakness with distal myopathy (VCPDM). This study investigated the mechanism by which mutant MATR3 causes multisystem proteinopathy (MSP) including ALS and VCPDM. We first analyzed ... | 0 |
Late neurological deficit following scoliosis surgery is a rare event and any change in the patient's neurological status deserves immediate attention. We report on two clinical cases (at 2 and 6 years of follow-up) where two different types of proximal instrumentation resulted in lateral drift into the spinal canal ca... | 0 |
We report the case of a young man with sudden onset of diplopia after an upper respiratory tract infection. Based on the first radiological findings acute hemorrhagic leukoencephalitis, a variant of acute disseminated encephalomyelitis, was suspected and treatment with high dose intravenous dexamethasone was started bu... | 0 |
CLN2 neuronal ceroid lipofuscinosis is a hereditary neurodegenerative disorder characterized by progressive vision loss, neurological decline, and seizures. CLN2 disease results from mutations in TPP1 that encodes the lysosomal enzyme tripeptidyl peptidase-1 (TPP1). Children with CLN2 neuronal ceroid lipofuscinosis exp... | 0 |
Amelogenesis imperfecta type IG (AI1G) is caused by mutations in FAM20A. Genotypic and phenotypic features of AI1G are diverse and their full spectra remain to be characterized. The aim of this study was to identify and summarize variants in FAM20A in a broad population of patients with AI1G. We identified a Thai femal... | 0 |
BACKGROUND:Joubert syndrome is a recessive neurodevelopmental disorder characterized by clinical and genetic heterogeneity. Clinical hallmarks include hypotonia, ataxia, facial dysmorphism, abnormal eye movement, irregular breathing pattern cognitive impairment and, the molar tooth sign is the pathognomonic midbrain-hi... | 0 |
Rasmussen encephalitis (RE) is an uncommon, medically refractory cause of seizures that usually presents in childhood or adolescence resulting in unilateral hemispheric atrophy in most cases. The purported immune-mediated cause of the disease is supported by the characteristic histopathologic features of diffuse periva... | 0 |
Purpose:We comprehensively evaluated the mutational spectrum of Leber congenital amaurosis (LCA) and investigated the molecular diagnostic rate and genotype-phenotype correlation in a Korean cohort. Methods:This single-center retrospective case series included 50 Korean patients with LCA between June 2015 and March 201... | 0 |
As a group, lethal genetic skeletal disorders (GSDs) usually result in death within the perinatal period. Because lethal GSDs are often ultrasonographically detectible by early midtrimester, dilation and evacuation (D&E) is the method of choice for elective termination of pregnancy in many institutions. However, becaus... | 0 |
BACKGROUND:Neurofibromatosis type 1 (NF1) patients may present a wide spectrum of spinal pathologies. Osseous changes may lead to severe deformities with significant implications on growth and quality of life. Neurogenic tumors and soft tissue abnormalities may cause neuropathic pain and dysfunction ranging from minor ... | 0 |
Polyisoprenoid alcohols are membrane lipids that are present in every cell, conserved from archaea to higher eukaryotes. The most common form, alpha-saturated polyprenol or dolichol is present in all tissues and most organelle membranes of eukaryotic cells. Dolichol has a well defined role as a lipid carrier for the gl... | 0 |
Background:Superior mesenteric artery (SMA) syndrome is a rare cause of upper gastrointestinal obstruction leading to acute kidney injury (AKI). Methods:We report a case of 23-year-old army personnel who presented with persistent vomiting leading to severe hypokalaemia, metabolic alkalosis, and acute kidney injury resu... | 0 |
Craniosynostosis means premature closure of calvarial sutures. It may be primary or secondary. The patient presents with unexplained neuropsychological impairment and radiological imaging clinches the diagnosis. We present a case of 31-year-old female having primary isolated craniosynostosis who survived into adulthood... | 0 |
CONCLUSIONS:This update of the RAPH blood group system (Hayes M. RAPH blood group system. Immunohematology 2014;30:6-10) reports no new alleles. The RAPH blood group system (International Society of Blood Transfusion system 25) consists of a single anti-gen (MER2) expressed on CD151, a member of the tetraspanin family ... | 0 |
The inherent complex and pleiotropic phenotype of mitochondrial diseases poses a significant diagnostic challenge for clinicians as well as an analytical barrier for scientists. To overcome these obstacles we compiled a novel database, www.mitodb.com, containing the clinical features of primary mitochondrial diseases. ... | 0 |
Mutations in neuroblastoma amplified sequence (NBAS) cause infantile liver failure syndrome-2 (ILFS2). NBAS is a protein involved in Golgi‑to‑endoplasmic reticulum retrograde transport. Exon capture in combination with high‑throughput sequencing was used to detect NBAS mutations. Via targeted sequencing, two causative ... | 0 |
In recent years, technological advances in sequencing have accelerated our understanding of epigenetics in ocular development and ophthalmic diseases. We now know that epigenetic modifications are necessary for normal ocular development and biological processes such as corneal wound healing and ocular surface repair, w... | 0 |
Ozurdex® 0.7 mg (dexamethasone 0.7 mg implant, Allergan, Dublin, Ireland), an intravitreal biodegradable implant, is indicated for cystoid macular edema due to various causes. One of its known and uncommon complications is implant migration to the anterior chamber, causing corneal edema that, in some cases, is irrevers... | 0 |
Objective:Retinitis pigmentosa-related retinal detachment (RPRD) is rare, and the full spectrum of retinal complications is not well defined. To describe the types of retinal detachment in patients with retinitis pigmentosa and the surgical outcomes of RPRD. Methods:This is a non-comparative, retrospective case series.... | 0 |
Although neonatal arterial ischemic stroke is now well-studied, its complex consequences on long-term cortical brain development has not yet been solved. In order to understand the brain development after focal early brain lesion, brain morphometry needs to be evaluated using structural parameters. In this work, our ai... | 0 |
In cultivated European eels, Aeromonas hydrophila, Edwardsiella anguillarum and Vibrio vulnificus are three important bacterial pathogens. In this study, European eels (Anguilla anguilla) were immunized by the bivalent expression products of the outer membrane protein (Omp) gene from A. hydrophila (OmpⅡ) and E. anguill... | 0 |
Platyspondylic lethal skeletal dysplasia (PLSD) Torrance type (PLSD-T) is a rare skeletal dysplasia characterized by platyspondyly, brachydactyly, and metaphyseal changes. Generally a perinatally lethal disease, a few long-term survivors have been reported. Recently, mutations in the carboxy-propeptide of type II colla... | 0 |
The study of gaze behavior has primarily been constrained to controlled environments in which the head is fixed. Consequently, little effort has been invested in the development of algorithms for the categorization of gaze events (e.g. fixations, pursuits, saccade, gaze shifts) while the head is free, and thus contribu... | 0 |
BACKGROUND:Syphilis is a systemic, infectious disease caused by Treponema pallidum and is notorious for the variety of its clinical presentations. OBJECTIVE:We report a case of secondary syphilis with thyroid gland and ocular involvement in a human immunodeficiency virus (HIV) negative patient. METHODS:We present the p... | 0 |
Objective: Maternally inherited diabetes and deafness (MIDD) is a rare diabetic syndrome mainly caused by a point mutation in the mitochondrial DNA (mtDNA), mt3243 adenine to guanine (A>G). The objective of this paper is to review the genetic inheritance, clinical manifestations, and treatment of patients with MIDD. Me... | 0 |
Systemic inflammatory response syndrome (SIRS) and sepsis are now frequently identified by observations of vital signs and detection of organ failure during triage in the emergency room. However, there is less focus on the effect on patient outcome with better observation and treatment at the ward level.This was a befo... | 0 |
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) was previously considered a rare, early-onset recessive form of small-vessel disease (SVD) caused by biallelic mutations in the serine protease gene HTRA1 with subsequent loss of its activity. However, very recently, t... | 0 |
BACKGROUND:22q11.2 deletion syndrome (22q) is a chromosome disorder, where a segment of chromosome 22, located at q11.2, is missing. This study aims to investigate the relationship between a number of parent-reported comorbid conditions including gastrointestinal symptoms, sleep problems, autism spectrum disorder (ASD)... | 0 |
Introduction:Spinal cord ependymoma seldom presents with holocord syringomyelia in pediatric age-group. Association of ependymoma with a lipoma is also rare. The child presented critically ill with polymicrobial pneumonia, and the neurologic findings were missed until recovery. We report a case highlighting these findi... | 0 |
A 6-month-old boy was referred to our burn unit with a recurrent bullous dermatitis, fever, and emesis, originally diagnosed as staphylococcal scalded skin syndrome (SSSS) at an outside hospital. Infectious workup was negative and shave biopsy revealed a dense, diffuse dermal infiltrate of mast cells, consistent with d... | 0 |
We report the case of an adolescent with hypohidrotic ectodermal dysplasia, who had obsessive-compulsive disorder and was later diagnosed with body dysmorphic disorder (BDD). BDD is a highly distressing, adolescent-onset disorder that may lead to social isolation, the development of comorbid mental health disorders and... | 0 |
Autoinflammatory syndromes are disorders with an exaggerated inflammatory response, mostly in the absence of an appropriate trigger. Prototypic autoinflammatory syndromes are FMF, hyper-IgD syndrome (also known as mevalonate kinase deficiency), TNF receptor-associated periodic syndrome and cryopyrin-associated periodic... | 0 |
Eastern equine encephalitis virus (EEEV), an Alphavirus from family Togaviridae, is a highly pathogenic arbovirus affecting the eastern United States, especially Florida. Effects of the Southern Oscillation Index (SOI), precipitation, and cooling degree days on EEEV horse case data in Florida from 2004 to 2018 were mod... | 0 |
An 11-month-old girl presented with dermatitis, boggy arthritis, and keratitis shortly after her hospitalization for bacterial pneumonia. A skin biopsy and genetic testing led to a diagnosis of Blau syndrome. Her symptoms persisted despite a stepwise increase in immune-modulating therapies. Her ocular findings advanced... | 0 |
Marinesco-Sjögren syndrome (MSS) is a rare, early onset, autosomal recessive multisystem disorder characterized by cerebellar ataxia, cataracts and myopathy. Most MSS cases are caused by loss-of-function mutations in the gene encoding SIL1, a nucleotide exchange factor for the molecular chaperone BiP which is essential... | 0 |
In this study we investigated the pronunciation error patterns in Kanji words of two patients with pure apraxia of speech. We asked the patients to read aloud 80 visually presented Kanji words, half of which were homonymous and the rest non-homonymous. The words were presented at three different intervals (2, 1.5 and 1... | 0 |
Hereditary transthyretin amyloidosis (hATTR) with polyneuropathy (formerly known as Familial Amyloid Polyneuropathy) is a rare disease due to mutations in the gene encoding transthyretin (TTR) and characterized by multisystem extracellular deposition of amyloid, leading to dysfunction of different organs and tissues. h... | 0 |
To identify the unknown genetic cause in a large pedigree previously classified with a distinct form of axonal Charcot-Marie-Tooth disease type 2G (CMT2G) and to explore its transcriptional consequences.Clinical reevaluation of the pedigree was performed, followed by linkage analysis with the redefined disease statuses... | 0 |
Information was collected on 301 cases of the Wiskott-Aldrich syndrome in the United States and Canada Examination of available medical records, death certificates and published case reports on these patients showed that they came from a wide geographic area and many diverse ethnic and racial groups. No significant dif... | 1 |
Background: Adolescents with brain stem dysfunction may undergo many invasive treatments, and parents are often faced with making the decision to withdraw treatment. However, in the face of their child's death, the spiritual practices of parents dealing with end-of-life decision-making remain under investigated.Purpose... | 0 |
Rare multiple congenital malformations/developmental disorders are challenging in clinical diagnosis. The introduction of next-generation sequencing (NGS) has revolutionized this diagnostic by offering multigene panels or whole-exome sequencing. However, if there is no possibility to perform NGS or if we are facing pre... | 0 |
Hamartomatous conditions of skin are comprised of variable composition of normal skin elements. They can present as nodular masses. They can be mistaken for neoplastic skin lesions. Folliculosebaceous cystic hamartoma is a rare skin condition seen in adults, commonly on head, neck and face region. Congenital variant is... | 0 |
Hashimoto's thyroiditis (HT) is present in the background of around 30% of papillary thyroid carcinomas (PTCs). The genetic predisposition effect of this autoimmune condition is not thoroughly understood. We analyzed the microarray expression profiles of 13 HT, eight PTCs with (w/) coexisting HT, six PTCs without (w/o)... | 0 |
Context: Berberine is an alkaloid that possesses various pharmacologic effects.Objective: To explore the mechanism of berberine to improve insulin sensitivity in fructose-fed mice.Materials and methods: Sixty male ICR mice were randomly divided into 6 groups (10 mice in each group): control, fructose, pioglitazone (10 ... | 0 |
Obesity is a complex, heritable trait influenced by the interplay of genetics, epigenetics, metagenomics and the environment. With the increasing access to high precision diagnostic tools for genetic investigations, numerous genes influencing the phenotype have been identified, especially in early onset severe obesity.... | 0 |
INTRODUCTION:Glanzmann thrombasthenia (GT) is most common of inherited platelet disorders, resulting from quantitative/qualitative defects in platelet surface integrin αIIbβ3, encoded by ITGA2B and ITGB3 genes. Little is known about clinical and molecular characteristics of GT patients from highly consanguineous Pakist... | 0 |
PURPOSE:To identify disease associated mutations in a male infant with congenital heart defects and heterochromia. METHODS:A detailed clinical examination and routine laboratory tests were performed on the patient. We applied whole exome sequencing to identify the causal mutation on the proband and other family members... | 0 |
Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma (CMT4B2, OMIM 604563) is a genetically-heterogeneous childhood-onset neuromuscular disorder. Here, we report the case of a 15-year-old male adolescent with lower extremity weakness, gait abnormalities, foot deformities and early-onset glaucoma. Since clinic... | 0 |
Chromosome 6q24-related transient neonatal diabetes mellitus is characterized by intrauterine growth restriction and low birth weight, with neonatal hyperglycemia resolving by 18 months and an increased risk for type 2 diabetes in adulthood. Molecularly, it is caused by overexpression of the 6q24 imprinted chromosomal ... | 0 |
Classic galactosemia results from a deficiency in the galactose-1-phosphate uridylyltransferase (GALT) enzyme, which is essential for galactose metabolism. Treatment focuses on lactose restriction and is achieved with a soy-based diet. Previously, renal calculi have not been documented in galactosemia patients. We pres... | 0 |
BACKGROUND:The XX male disorder of sex development (DSD) is a rare condition that is most commonly associated with the presence of the SRY gene on one of the X chromosomes due to unequal crossing-over between sex chromosomes during spermatogenesis. However, in about 20% of the XX male individuals, SRY is missing, altho... | 0 |
BACKGROUND Thyroid function is closely related to the cardiovascular system. Pericardial effusion is a well-known complication of hypothyroidism. It is common for massive pericardial effusion to progress to tamponed heart with hypotension, but not high blood pressure. CASE REPORT A 46-year-old woman presented to the ho... | 0 |
To compare the incidence of West syndrome (WS) and early infantile epileptic encephalopathy (EIEE) in Miyagi Prefecture, Japan, we studied retrospectively the medical records of cases involving WS or EIEE for the period 2000-2005. During this period, 45 children developed WS and one child was diagnosed with EIEE. The e... | 1 |
Biallelic mutations in ACP5, encoding tartrate-resistant acid phosphatase (TRACP), have recently been identified to cause the inherited immuno-osseous disorder, spondyloenchondrodysplasia (SPENCD). This study was undertaken to characterize the eight reported missense mutations in ACP5 associated with SPENCD on TRACP ex... | 0 |
The role of X-inactivation is often ignored as a prime cause of sex differences in disease. Yet, the way males and females express their X-linked genes has a major role in the dissimilar phenotypes that underlie many rare and common disorders, such as intellectual deficiency, epilepsy, congenital abnormalities, and dis... | 0 |
Osteogenesis imperfecta (OI) is a rare hereditary bone fragility disorder, caused by collagen I mutations in 90% of cases. There are no comprehensive genotype-phenotype studies on >100 families outside North America, and no population-based studies determining the genetic epidemiology of OI. Here, detailed clinical phe... | 1 |
Epidemiological studies of primary Sjögren's syndrome (pSS) are crucial for describing the burden to society and the public medical system and for shedding light on aetiology. Previous reports of the epidemiology of pSS show variable outcomes. We conducted a systematic review of the epidemiology of pSS to assess the pr... | 1 |
Heterozygous deletions within chromosome 20q, or del(20q), are frequent cytogenetic abnormalities detected in hematologic malignancies. To date, identification of genes in the del(20q) common deleted region that contribute to disease development have remained elusive. Through assessment of patient gene expression, we h... | 0 |
Gastric acid hypersecretory states are characterized by basal hypersecretion of gastric acid and historically include disorders associated with hypergastrinemia, hyperhistaminemia, and those of unknown etiology. Although gastric acid secretion is infrequently measured, it is important to recognize the role of gastric h... | 0 |
Von Hippel-Lindau syndrome (VHL) is a rare disease of dominant inheritance that increases susceptibility to tumor development, with a complete penetrance at the age of 60. In this report, we present the unprecedented case of a VHL carrier who remains healthy at 72. Under the course of this study, it was discovered that... | 0 |
INTRODUCTION:Reversible cerebral vasoconstriction syndrome (RCVS) is a cerebrovascular disorder associated with multifocal intracranial arterial constriction and dilation that occurs spontaneously or as a result of a stimulant. The authors present a case of RCVS in a patient who presented with a new-onset thunderclap h... | 0 |
Bimatoprost is a prostamide analogue used for treatment of glaucoma in ophthalmology. Surprisingly, the side effects such as increased pigmentation of eyelids and hypertrichosis in patients being treated with prostaglandin analogues for glaucoma have opened new areas of application in various dermatological disorders s... | 0 |
Rationale: Hyperlipidemia is a major risk factor of atherosclerosis and cardiovascular diseases (CVD). As a standard-of-care approach for hyperlipidemia, statins only reduce the risk of coronary artery disease by 20-40%, underscoring the importance of identifying molecular pathways for the design of drugs against this ... | 0 |
Objective: To estimate the economic burden of hemophilia A and B in the patients referred to the related referral hospital in the south of Iran in 2017.Methods: This cross-sectional study was a partial economic evaluation and a cost of illness study, carried out in 2017. All the patients with hemophilia A and B referre... | 0 |
INTRODUCTION:Small cell carcinoma of the bladder (SmCC) is a rare and aggressive genitourinary malignancy. The paucity of clinical trials and outcome data provide no standard treatment guidelines. Accordingly, patient prognosis is poor. Our goal was to present the first comprehensive in-depth analysis of SmCC in a tert... | 0 |
BACKGROUND: Roberts syndrome (RBS) is a rare autosomal recessive disorder mainly characterized by growth retardation, limb defects and craniofacial anomalies. Characteristic cytogenetic findings are "railroad track" appearance of chromatids and premature centromere separation in metaphase spreads. Mutations in the ESCO... | 0 |
INTRODUCTION:Arteriovenous fistulae (AVF)-associated reactive angioendotheliomatosis (RAE) is a very rare entity (three previously reported cases in the literature) that can manifest as extremity wounds. RAE's etiopathology is unknown. CASE DESCRIPTION:We report a case of severe limb-threatening upper extremity wound w... | 0 |
BACKGROUND:Hyaline fibromatosis syndrome is an autosomal recessive disease caused by mutations in ANTXR2 which leads to loss of function of the transmembrane protein anthrax toxin receptor 2. It is distinguished by characteristic skin lesions, gingival hyperplasia, joint and bone disease, and systemic involvement. METH... | 0 |
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